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UniProtKB - Q12809 (KCNH2_HUMAN)

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Protein

Potassium voltage-gated channel subfamily H member 2

Gene

KCNH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr) (PubMed:18559421, PubMed:26363003, PubMed:27916661).3 Publications
Isoform A-USO: Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.1 Publication
Isoform B-USO: Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi742 – 842cNMPAdd BLAST101

GO - Molecular functioni

  • C3HC4-type RING finger domain binding Source: BHF-UCL
  • delayed rectifier potassium channel activity Source: BHF-UCL
  • identical protein binding Source: IntAct
  • inward rectifier potassium channel activity Source: BHF-UCL
  • phosphorelay sensor kinase activity Source: InterPro
  • protein homodimerization activity Source: BHF-UCL
  • scaffold protein binding Source: BHF-UCL
  • ubiquitin protein ligase binding Source: BHF-UCL
  • voltage-gated potassium channel activity Source: BHF-UCL
  • voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization Source: BHF-UCL
  • voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization Source: BHF-UCL
Complete GO annotation...

GO - Biological processi

  • cardiac conduction Source: Reactome
  • cardiac muscle contraction Source: BHF-UCL
  • cellular response to drug Source: BHF-UCL
  • membrane depolarization during action potential Source: BHF-UCL
  • membrane repolarization during action potential Source: BHF-UCL
  • membrane repolarization during cardiac muscle cell action potential Source: BHF-UCL
  • membrane repolarization during ventricular cardiac muscle cell action potential Source: BHF-UCL
  • negative regulation of potassium ion export Source: BHF-UCL
  • negative regulation of potassium ion transmembrane transport Source: BHF-UCL
  • positive regulation of potassium ion transmembrane transport Source: BHF-UCL
  • potassium ion export Source: BHF-UCL
  • potassium ion export across plasma membrane Source: BHF-UCL
  • potassium ion homeostasis Source: BHF-UCL
  • potassium ion transmembrane transport Source: BHF-UCL
  • regulation of heart rate by cardiac conduction Source: BHF-UCL
  • regulation of heart rate by hormone Source: BHF-UCL
  • regulation of membrane potential Source: BHF-UCL
  • regulation of membrane repolarization Source: BHF-UCL
  • regulation of potassium ion transmembrane transport Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  • ventricular cardiac muscle cell action potential Source: BHF-UCL
Complete GO annotation...

Keywordsi

Molecular functionIon channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

ReactomeiR-HSA-1296072. Voltage gated Potassium channels.
R-HSA-5576890. Phase 3 - rapid repolarisation.
SignaLinkiQ12809.
SIGNORiQ12809.

Protein family/group databases

TCDBi1.A.1.20.1. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily H member 2
Alternative name(s):
Eag homolog
Ether-a-go-go-related gene potassium channel 1
Short name:
ERG-1
Short name:
Eag-related protein 1
Short name:
Ether-a-go-go-related protein 1
Short name:
H-ERG
Short name:
hERG-1
Short name:
hERG1
Voltage-gated potassium channel subunit Kv11.1
Gene namesi
Name:KCNH2
Synonyms:ERG, ERG1, HERG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:6251. KCNH2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 403CytoplasmicSequence analysisAdd BLAST403
Transmembranei404 – 424Helical; Name=Segment S1Sequence analysisAdd BLAST21
Topological domaini425 – 450ExtracellularSequence analysisAdd BLAST26
Transmembranei451 – 471Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini472 – 495CytoplasmicSequence analysisAdd BLAST24
Transmembranei496 – 516Helical; Name=Segment S3Sequence analysisAdd BLAST21
Topological domaini517 – 520ExtracellularSequence analysis4
Transmembranei521 – 541Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST21
Topological domaini542 – 547CytoplasmicSequence analysis6
Transmembranei548 – 568Helical; Name=Segment S5Sequence analysisAdd BLAST21
Topological domaini569 – 611ExtracellularSequence analysisAdd BLAST43
Intramembranei612 – 632Pore-forming; Name=Segment H5Sequence analysisAdd BLAST21
Topological domaini633 – 638ExtracellularSequence analysis6
Transmembranei639 – 659Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini660 – 1159CytoplasmicSequence analysisAdd BLAST500

GO - Cellular componenti

  • cell surface Source: BHF-UCL
  • perinuclear region of cytoplasm Source: BHF-UCL
  • plasma membrane Source: BHF-UCL
  • voltage-gated potassium channel complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Long QT syndrome 2 (LQT2)30 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often associated with long QT syndrome type 2.
See also OMIM:613688
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07476516D → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472825Ensembl.1
Natural variantiVAR_07476620R → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473486Ensembl.1
Natural variantiVAR_06824926S → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472827Ensembl.1
Natural variantiVAR_00890729F → L in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472830Ensembl.1
Natural variantiVAR_07476730I → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472832Ensembl.1
Natural variantiVAR_06825031I → S in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472833Ensembl.1
Natural variantiVAR_07476832A → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472834Ensembl.1
Natural variantiVAR_00890833N → T in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473487Ensembl.1
Natural variantiVAR_07476941V → F in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472835Ensembl.1
Natural variantiVAR_07477043Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472836Ensembl.1
Natural variantiVAR_07477145N → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472839Ensembl.1
Natural variantiVAR_00990947G → V in LQT2. Corresponds to variant dbSNP:rs199473490Ensembl.1
Natural variantiVAR_07477249C → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472840Ensembl.1
Natural variantiVAR_07477353G → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473491Ensembl.1
Natural variantiVAR_00890953G → R in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472842Ensembl.1
Natural variantiVAR_07477454Y → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472843Ensembl.1
Natural variantiVAR_06825155S → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472844Ensembl.1
Natural variantiVAR_00891056R → Q in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472845Ensembl.1
Natural variantiVAR_07477557A → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472846Ensembl.1
Natural variantiVAR_07477658E → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472847Ensembl.1
Natural variantiVAR_07477758E → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473492Ensembl.1
Natural variantiVAR_07477858E → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472847Ensembl.1
Natural variantiVAR_07477964C → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473414Ensembl.1
Natural variantiVAR_07795364C → Y in LQT2; decreased protein stability. 1 PublicationCorresponds to variant dbSNP:rs199473415Ensembl.1
Natural variantiVAR_01437165T → P in LQT2; decreased protein stability. 3 PublicationsCorresponds to variant dbSNP:rs28933095Ensembl.1
Natural variantiVAR_00891166C → G in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473416Ensembl.1
Natural variantiVAR_07478068F → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473417Ensembl.1
Natural variantiVAR_07478170H → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473418Ensembl.1
Natural variantiVAR_00891270H → R in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199473419Ensembl.1
Natural variantiVAR_07478271G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473420Ensembl.1
Natural variantiVAR_07478372 – 80PRTQRRAAA → RPV in LQT2; unknown pathological significance. 1 Publication9
Natural variantiVAR_07478472P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473421Ensembl.1
Natural variantiVAR_00991072P → Q in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473421Ensembl.1
Natural variantiVAR_07478574T → M in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473422Ensembl.1
Natural variantiVAR_07478674T → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473666Ensembl.1
Natural variantiVAR_07478774T → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473422Ensembl.1
Natural variantiVAR_00891378A → P in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472848Ensembl.1
Natural variantiVAR_06825285A → V in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473494Ensembl.1
Natural variantiVAR_07478886L → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472851Ensembl.1
Natural variantiVAR_00891486L → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472851Ensembl.1
Natural variantiVAR_07478994V → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472852Ensembl.1
Natural variantiVAR_036669100R → G in LQT2; digenic; the patient also carries mutation N-1819 on SCN5A. 1 PublicationCorresponds to variant dbSNP:rs121912515Ensembl.1
Natural variantiVAR_068253100R → Q in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472855Ensembl.1
Natural variantiVAR_074790100R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121912515Ensembl.1
Natural variantiVAR_074791102D → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472857Ensembl.1
Natural variantiVAR_074792106F → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472858Ensembl.1
Natural variantiVAR_074793108C → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472859Ensembl.1
Natural variantiVAR_074794114P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472861Ensembl.1
Natural variantiVAR_074795125F → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473499Ensembl.1
Natural variantiVAR_074796141P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472864Ensembl.1
Natural variantiVAR_074797149G → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472865Ensembl.1
Natural variantiVAR_074798164R → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472866Ensembl.1
Natural variantiVAR_008915176R → W in LQT2. 1 PublicationCorresponds to variant dbSNP:rs36210422Ensembl.1
Natural variantiVAR_074799218M → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472869Ensembl.1
Natural variantiVAR_068254238G → S in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473501Ensembl.1
Natural variantiVAR_074800242R → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472872Ensembl.1
Natural variantiVAR_074801251P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472873Ensembl.1
Natural variantiVAR_074802259D → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472876Ensembl.1
Natural variantiVAR_074803277A → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472878Ensembl.1
Natural variantiVAR_074804291M → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472881Ensembl.1
Natural variantiVAR_074805301R → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472883Ensembl.1
Natural variantiVAR_068255306G → W in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472884Ensembl.1
Natural variantiVAR_009911312R → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472885Ensembl.1
Natural variantiVAR_074806314G → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473504Ensembl.1
Natural variantiVAR_068256320S → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472886Ensembl.1
Natural variantiVAR_074807323D → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472887Ensembl.1
Natural variantiVAR_068257328R → C in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473505Ensembl.1
Natural variantiVAR_009912347P → S in LQT2. Corresponds to variant dbSNP:rs138776684Ensembl.1
Natural variantiVAR_074808402H → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473506Ensembl.1
Natural variantiVAR_074809410W → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472892Ensembl.1
Natural variantiVAR_074684413L → P in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472893Ensembl.1
Natural variantiVAR_068258420Y → C in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473507Ensembl.1
Natural variantiVAR_068259421T → M in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472894Ensembl.1
Natural variantiVAR_068260422A → T in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472895Ensembl.1
Natural variantiVAR_074810426P → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472896Ensembl.1
Natural variantiVAR_074811427Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472897Ensembl.1
Natural variantiVAR_074812427Y → H in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472898Ensembl.1
Natural variantiVAR_068261427Y → S in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472897Ensembl.1
Natural variantiVAR_074813428S → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472899Ensembl.1
Natural variantiVAR_074814431F → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472900Ensembl.1
Natural variantiVAR_008916436T → M in LQT2. Corresponds to variant dbSNP:rs199472901Ensembl.1
Natural variantiVAR_074815440P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473509Ensembl.1
Natural variantiVAR_074685444E → D in LQT2. 1 PublicationCorresponds to variant dbSNP:rs9770044Ensembl.1
Natural variantiVAR_014373451P → L in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472902Ensembl.1
Natural variantiVAR_068262456D → Y in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473510Ensembl.1
Natural variantiVAR_074816460D → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472903Ensembl.1
Natural variantiVAR_074817466D → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473511Ensembl.1
Natural variantiVAR_008578470N → D in LQT2; aberrant protein folding increases the association of mutant KCNH2 with CANX and results in defective protein trafficking. 2 PublicationsCorresponds to variant dbSNP:rs121912505Ensembl.1
Natural variantiVAR_074818473T → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472905Ensembl.1
Natural variantiVAR_008917474T → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472906Ensembl.1
Natural variantiVAR_074819475Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472907Ensembl.1
Natural variantiVAR_068263475Missing in LQT2. 1 Publication1
Natural variantiVAR_074820476V → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472908Ensembl.1
Natural variantiVAR_036671490A → T in LQT2; bradycardia-induced. 2 PublicationsCorresponds to variant dbSNP:rs28928905Ensembl.1
Natural variantiVAR_074821493Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472911Ensembl.1
Natural variantiVAR_074822493Y → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472911Ensembl.1
Natural variantiVAR_009178500 – 508Missing in LQT2. 9
Natural variantiVAR_074823501D → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472912Ensembl.1
Natural variantiVAR_074824501D → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472912Ensembl.1
Natural variantiVAR_036672525K → N in LQT2; located on the same allele as Pro-528. 1 PublicationCorresponds to variant dbSNP:rs199472913Ensembl.1
Natural variantiVAR_036673528R → P in LQT2; located on the same allele as Asn-525. 1 PublicationCorresponds to variant dbSNP:rs199472914Ensembl.1
Natural variantiVAR_009913531R → Q in LQT2. Corresponds to variant dbSNP:rs199473515Ensembl.1
Natural variantiVAR_074825531R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472915Ensembl.1
Natural variantiVAR_008579534R → C in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472916Ensembl.1
Natural variantiVAR_074826534R → L in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473516Ensembl.1
Natural variantiVAR_008918552L → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472918Ensembl.1
Natural variantiVAR_074827558A → E in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472919Ensembl.1
Natural variantiVAR_008919558A → P in LQT2. 1 PublicationCorresponds to variant dbSNP:rs121912516Ensembl.1
Natural variantiVAR_074686559L → H in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472920Ensembl.1
Natural variantiVAR_014374561A → T in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472921Ensembl.1
Natural variantiVAR_008580561A → V in LQT2; the mutation reduces wild-type channel expression. 4 PublicationsCorresponds to variant dbSNP:rs121912504Ensembl.1
Natural variantiVAR_068264562H → P in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472922Ensembl.1
Natural variantiVAR_074828562H → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472922Ensembl.1
Natural variantiVAR_008920564L → P in LQT2. Corresponds to variant dbSNP:rs199472924Ensembl.1
Natural variantiVAR_074829565A → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473518Ensembl.1
Natural variantiVAR_074830566C → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472925Ensembl.1
Natural variantiVAR_074831568W → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472927Ensembl.1
Natural variantiVAR_008921569Y → H in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473520Ensembl.1
Natural variantiVAR_068265571I → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472928Ensembl.1
Natural variantiVAR_074832571I → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472928Ensembl.1
Natural variantiVAR_008923572G → C in LQT2. 1 PublicationCorresponds to variant dbSNP:rs9333649Ensembl.1
Natural variantiVAR_074833572G → D in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473423Ensembl.1
Natural variantiVAR_008922572G → R in LQT2; severe form. 1 PublicationCorresponds to variant dbSNP:rs9333649Ensembl.1
Natural variantiVAR_068266572G → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs9333649Ensembl.1
Natural variantiVAR_074834572G → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473423Ensembl.1
Natural variantiVAR_008581582R → C in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs121912508Ensembl.1
Natural variantiVAR_074835582R → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473426Ensembl.1
Natural variantiVAR_074836584G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473428Ensembl.1
Natural variantiVAR_008924584G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199473428Ensembl.1
Natural variantiVAR_009914585W → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473430Ensembl.1
Natural variantiVAR_008925588N → D in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473431Ensembl.1
Natural variantiVAR_074837593I → K in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs28928904Ensembl.1
Natural variantiVAR_008582593I → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs28928904Ensembl.1
Natural variantiVAR_009915593I → T in LQT2. Corresponds to variant dbSNP:rs28928904Ensembl.1
Natural variantiVAR_074838594G → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472931Ensembl.1
Natural variantiVAR_074839596P → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472933Ensembl.1
Natural variantiVAR_074840596P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472933Ensembl.1
Natural variantiVAR_068267596P → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472933Ensembl.1
Natural variantiVAR_074841597Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472934Ensembl.1
Natural variantiVAR_074842599S → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472935Ensembl.1
Natural variantiVAR_074843601G → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472936Ensembl.1
Natural variantiVAR_008926601G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472936Ensembl.1
Natural variantiVAR_008927604G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199473522Ensembl.1
Natural variantiVAR_074844605P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472938Ensembl.1
Natural variantiVAR_074845605P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472939Ensembl.1
Natural variantiVAR_074846609D → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472940Ensembl.1
Natural variantiVAR_074847609D → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472941Ensembl.1
Natural variantiVAR_009916609D → N in LQT2. Corresponds to variant dbSNP:rs199472941Ensembl.1
Natural variantiVAR_008928611Y → H in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472942Ensembl.1
Natural variantiVAR_008929612V → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472943Ensembl.1
Natural variantiVAR_008930613T → M in LQT2. 4 PublicationsCorresponds to variant dbSNP:rs199473524Ensembl.1
Natural variantiVAR_008931614A → V in LQT2. 5 PublicationsCorresponds to variant dbSNP:rs199472944Ensembl.1
Natural variantiVAR_074848615L → F in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472945Ensembl.1
Natural variantiVAR_014375615L → V in LQT2. Corresponds to variant dbSNP:rs199472945Ensembl.1
Natural variantiVAR_074849616Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472946Ensembl.1
Natural variantiVAR_074850621S → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472949Ensembl.1
Natural variantiVAR_068268622L → F in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473525Ensembl.1
Natural variantiVAR_068269623T → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472950Ensembl.1
Natural variantiVAR_074851626G → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472952Ensembl.1
Natural variantiVAR_074852626G → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472952Ensembl.1
Natural variantiVAR_014376626G → S in LQT2. Corresponds to variant dbSNP:rs199472953Ensembl.1
Natural variantiVAR_014377627F → L in LQT2. Corresponds to variant dbSNP:rs199473039Ensembl.1
Natural variantiVAR_008583628G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs121912507Ensembl.1
Natural variantiVAR_068270628G → V in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472955Ensembl.1
Natural variantiVAR_008932629N → D in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472956Ensembl.1
Natural variantiVAR_074853629N → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472957Ensembl.1
Natural variantiVAR_008933629N → K in LQT2. 1 PublicationCorresponds to variant dbSNP:rs41307295Ensembl.1
Natural variantiVAR_009179629N → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472957Ensembl.1
Natural variantiVAR_008935630V → A in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473526Ensembl.1
Natural variantiVAR_008934630V → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472958Ensembl.1
Natural variantiVAR_014378632P → S in LQT2. Corresponds to variant dbSNP:rs199473527Ensembl.1
Natural variantiVAR_008936633N → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472961Ensembl.1
Natural variantiVAR_074854634T → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472962Ensembl.1
Natural variantiVAR_074855635N → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472963Ensembl.1
Natural variantiVAR_068271635N → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472964Ensembl.1
Natural variantiVAR_074856635N → K in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472965Ensembl.1
Natural variantiVAR_074857637E → D in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472966Ensembl.1
Natural variantiVAR_014379637E → K in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472968Ensembl.1
Natural variantiVAR_014380638K → E in LQT2. Corresponds to variant dbSNP:rs199473528Ensembl.1
Natural variantiVAR_074858638K → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472969Ensembl.1
Natural variantiVAR_014381638Missing in LQT2; unknown pathological significance. 1 Publication1
Natural variantiVAR_008937640F → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472970Ensembl.1
Natural variantiVAR_068272640F → V in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473529Ensembl.1
Natural variantiVAR_068273641S → F in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472971Ensembl.1
Natural variantiVAR_074859644V → F in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472972Ensembl.1
Natural variantiVAR_074860644V → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472972Ensembl.1
Natural variantiVAR_074861645M → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472973Ensembl.1
Natural variantiVAR_014382645M → L in LQT2. Corresponds to variant dbSNP:rs199472974Ensembl.1
Natural variantiVAR_074862648G → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472975Ensembl.1
Natural variantiVAR_074863656F → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472977Ensembl.1
Natural variantiVAR_074864657G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472978Ensembl.1
Natural variantiVAR_074865660S → L in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472979Ensembl.1
Natural variantiVAR_074866662I → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472980Ensembl.1
Natural variantiVAR_068274671 – 675Missing in LQT2. 1 Publication5
Natural variantiVAR_074867678L → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472981Ensembl.1
Natural variantiVAR_074868687H → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472982Ensembl.1
Natural variantiVAR_074869693L → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472983Ensembl.1
Natural variantiVAR_036674696R → C in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472984Ensembl.1
Natural variantiVAR_074870696R → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473531Ensembl.1
Natural variantiVAR_074871711I → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473532Ensembl.1
Natural variantiVAR_068275721P → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472986Ensembl.1
Natural variantiVAR_074872728I → F in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473533Ensembl.1
Natural variantiVAR_068276744R → P in LQT2; impairs channel function; exhibits reduced activating currents compared to wild-type; cell surface trafficking is not impaired; does not exert dominant-negative effects on wild-type channel; the half-maximal activation voltage is not significantly affected by the mutation. 1 Publication1
Natural variantiVAR_074873749G → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472989Ensembl.1
Natural variantiVAR_036675752R → Q in LQT2. 1 PublicationCorresponds to variant dbSNP:rs121912512Ensembl.1
Natural variantiVAR_014383752R → W in LQT2. Corresponds to variant dbSNP:rs199472990Ensembl.1
Natural variantiVAR_074874757K → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472992Ensembl.1
Natural variantiVAR_074875767D → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472993Ensembl.1
Natural variantiVAR_074876770V → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472994Ensembl.1
Natural variantiVAR_068277774D → Y in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472995Ensembl.1
Natural variantiVAR_036676784R → W Predisposes to LQT2 and torsades de pointes while taking the drug amiodarone; in vitro studies confirmed a significant reduction in potassium currents; the ECG abnormalities reversed on drug withdrawal. 2 PublicationsCorresponds to variant dbSNP:rs12720441Ensembl.1
Natural variantiVAR_068278788E → D in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473535Ensembl.1
Natural variantiVAR_074877788E → K in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472997Ensembl.1
Natural variantiVAR_074878791 – 799Missing in LQT2; unknown pathological significance. 1 Publication9
Natural variantiVAR_074879791R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138498207Ensembl.1
Natural variantiVAR_074880800G → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472998Ensembl.1
Natural variantiVAR_014384805F → C in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472999Ensembl.1
Natural variantiVAR_014385805F → S in LQT2. Corresponds to variant dbSNP:rs199472999Ensembl.1
Natural variantiVAR_074881806G → E in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473000Ensembl.1
Natural variantiVAR_008938818S → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs121912510Ensembl.1
Natural variantiVAR_074882818S → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473537Ensembl.1
Natural variantiVAR_068279820G → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473001Ensembl.1
Natural variantiVAR_008584822V → M in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs121912506Ensembl.1
Natural variantiVAR_014386823R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473538Ensembl.1
Natural variantiVAR_068280837D → G in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473004Ensembl.1
Natural variantiVAR_074883837D → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473005Ensembl.1
Natural variantiVAR_074884846P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473006Ensembl.1
Natural variantiVAR_074885861N → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473007Ensembl.1
Natural variantiVAR_014387861N → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs121912513Ensembl.1
Natural variantiVAR_074886885R → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143512106Ensembl.1
Natural variantiVAR_068281887R → H in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473432Ensembl.1
Natural variantiVAR_074887894R → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473433Ensembl.1
Natural variantiVAR_074888894R → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473668Ensembl.1
Natural variantiVAR_074889903G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473669Ensembl.1
Natural variantiVAR_074890906S → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473435Ensembl.1
Natural variantiVAR_068282913A → V in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs77331749Ensembl.1
Natural variantiVAR_014389917P → L in LQT2. Corresponds to variant dbSNP:rs76420733Ensembl.1
Natural variantiVAR_074891920R → Q in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473670Ensembl.1
Natural variantiVAR_074892920R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473438Ensembl.1
Natural variantiVAR_074893922R → Q in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473439Ensembl.1
Natural variantiVAR_014390922R → W in LQT2. Corresponds to variant dbSNP:rs199473440Ensembl.1
Natural variantiVAR_074894924G → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473009Ensembl.1
Natural variantiVAR_074895924G → E in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473009Ensembl.1
Natural variantiVAR_068283925G → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473010Ensembl.1
Natural variantiVAR_074896937S → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473540Ensembl.1
Natural variantiVAR_036677948R → C in LQT2. 1 PublicationCorresponds to variant dbSNP:rs121912514Ensembl.1
Natural variantiVAR_074897968P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473017Ensembl.1
Natural variantiVAR_068284983T → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs149955375Ensembl.1
Natural variantiVAR_068285996N → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473018Ensembl.1
Natural variantiVAR_0748981005R → Q in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473019Ensembl.1
Natural variantiVAR_0748991007R → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473542Ensembl.1
Natural variantiVAR_0749001033R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473021Ensembl.1
Natural variantiVAR_0682861036G → D in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473022Ensembl.1
Natural variantiVAR_0749011038V → M in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473544Ensembl.1
Natural variantiVAR_0749021049L → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473026Ensembl.1
Natural variantiVAR_0749031066L → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473027Ensembl.1
Natural variantiVAR_0749041078Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473029Ensembl.1
Natural variantiVAR_0749051093P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473545Ensembl.1
Natural variantiVAR_0749061115M → V in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473546Ensembl.1
Natural variantiVAR_0749071153H → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473035Ensembl.1
Short QT syndrome 1 (SQT1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death.
See also OMIM:609620
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023840588N → K in SQT1. 2 PublicationsCorresponds to variant dbSNP:rs104894021Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi29F → A: Slows down deactivation. 1 Publication1
Mutagenesisi43Y → A: Slows down deactivation. 1 Publication1
Mutagenesisi283S → A: Abolishes phosphorylation; when associated with A-890; A-895 and A-1137. 1 Publication1
Mutagenesisi598N → Q: No effect on cell surface expression, but changes inactivation kinetics; when associated with A-631. 1 Publication1
Mutagenesisi629N → Q: Abolishes cell surface expression; has no effect on N-glycosylation. 1 Publication1
Mutagenesisi631S → A: No effect on cell surface expression, but changes inactivation kinetics; when associated with Q-598. 1 Publication1
Mutagenesisi890S → A: Abolishes phosphorylation; when associated with A-283; A-895 and A-1137. 1 Publication1
Mutagenesisi895T → A: Abolishes phosphorylation; when associated with A-283; A-890 and A-1137. 1 Publication1
Mutagenesisi1137S → A: Abolishes phosphorylation; when associated with A-283; A-890 and A-895. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Long QT syndrome, Short QT syndrome

Organism-specific databases

DisGeNETi3757.
MalaCardsiKCNH2.
MIMi609620. phenotype.
613688. phenotype.
OpenTargetsiENSG00000055118.
Orphaneti51083. Familial short QT syndrome.
101016. Romano-Ward syndrome.
PharmGKBiPA212.

Chemistry databases

ChEMBLiCHEMBL240.
DrugBankiDB00346. Alfuzosin.
DB01118. Amiodarone.
DB00276. Amsacrine.
DB00637. Astemizole.
DB04957. Azimilide.
DB01136. Carvedilol.
DB00477. Chlorpromazine.
DB00537. Ciprofloxacin.
DB00604. Cisapride.
DB01211. Clarithromycin.
DB00204. Dofetilide.
DB00590. Doxazosin.
DB01142. Doxepin.
DB04855. Dronedarone.
DB00199. Erythromycin.
DB01218. Halofantrine.
DB00308. Ibutilide.
DB00458. Imipramine.
DB01110. Miconazole.
DB01100. Pimozide.
DB00457. Prazosin.
DB01182. Propafenone.
DB00908. Quinidine.
DB06144. Sertindole.
DB00489. Sotalol.
DB01162. Terazosin.
DB00342. Terfenadine.
DB00679. Thioridazine.
DB00661. Verapamil.
GuidetoPHARMACOLOGYi572.

Polymorphism and mutation databases

BioMutaiKCNH2.
DMDMi7531135.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000539991 – 1159Potassium voltage-gated channel subfamily H member 2Add BLAST1159

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei179PhosphoserineBy similarity1
Modified residuei239PhosphoserineCombined sources1
Modified residuei243PhosphoserineBy similarity1
Modified residuei283PhosphoserineBy similarity1
Modified residuei284PhosphoserineBy similarity1
Modified residuei320PhosphoserineCombined sources1
Modified residuei351PhosphoserineBy similarity1
Glycosylationi598N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei871PhosphoserineCombined sources1
Modified residuei874PhosphoserineBy similarity1
Modified residuei890PhosphoserineBy similarity1
Modified residuei1014Omega-N-methylarginineBy similarity1
Modified residuei1137PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated on serine and threonine residues. Phosphorylation by PKA inhibits ion conduction.1 Publication

Keywords - PTMi

Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

PaxDbiQ12809.
PeptideAtlasiQ12809.
PRIDEiQ12809.

PTM databases

iPTMnetiQ12809.
PhosphoSitePlusiQ12809.

Expressioni

Tissue specificityi

Highly expressed in heart and brain. Isoforms USO are frequently overexpressed in cancer cells.1 Publication

Inductioni

Up-regulated by RNF207 (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000055118.
CleanExiHS_ERG.
HS_KCNH2.
ExpressionAtlasiQ12809. baseline and differential.
GenevisibleiQ12809. HS.

Interactioni

Subunit structurei

The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits (PubMed:27916661). Interacts with DNAJB12 and DNAJB14; chaperones DNAJB12 and DNAJB14 promote tetramerization (PubMed:27916661). Heteromultimer with KCNH6/ERG2 and KCNH7/ERG3 (By similarity). Interacts with ALG10B (By similarity). Heteromultimer with KCNE1 and KCNE2 (PubMed:9230439, PubMed:10219239). Interacts with CANX (PubMed:16361248). The core-glycosylated, but not the fully glycosylated form interacts with RNF207 (PubMed:25281747). Interacts with NDFIP1 and NDFIP2 (PubMed:26363003).By similarity6 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • C3HC4-type RING finger domain binding Source: BHF-UCL
  • identical protein binding Source: IntAct
  • protein homodimerization activity Source: BHF-UCL
  • scaffold protein binding Source: BHF-UCL
  • ubiquitin protein ligase binding Source: BHF-UCL
Complete GO annotation...

Protein-protein interaction databases

BioGridi109959. 23 interactors.
DIPiDIP-48929N.
IntActiQ12809. 8 interactors.
MINTiMINT-1427435.
STRINGi9606.ENSP00000262186.

Chemistry databases

BindingDBiQ12809.

Structurei

Secondary structure

11159
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi15 – 19Combined sources5
Turni23 – 26Combined sources4
Beta strandi29 – 33Combined sources5
Beta strandi36 – 38Combined sources3
Beta strandi40 – 44Combined sources5
Helixi46 – 52Combined sources7
Helixi56 – 59Combined sources4
Helixi67 – 69Combined sources3
Helixi76 – 87Combined sources12
Beta strandi88 – 90Combined sources3
Beta strandi92 – 99Combined sources8
Beta strandi105 – 116Combined sources12
Beta strandi118 – 120Combined sources3
Beta strandi122 – 134Combined sources13
Turni538 – 540Combined sources3
Helixi542 – 549Combined sources8
Beta strandi577 – 580Combined sources4
Helixi586 – 593Combined sources8
Helixi605 – 610Combined sources6
Helixi735 – 739Combined sources5
Beta strandi743 – 745Combined sources3
Turni748 – 750Combined sources3
Helixi751 – 757Combined sources7
Beta strandi759 – 763Combined sources5
Beta strandi768 – 770Combined sources3
Beta strandi778 – 785Combined sources8
Beta strandi787 – 795Combined sources9
Turni809 – 811Combined sources3
Beta strandi819 – 824Combined sources6
Beta strandi826 – 834Combined sources9
Helixi835 – 844Combined sources10
Helixi846 – 855Combined sources10
Beta strandi859 – 861Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1BYWX-ray2.60A26-135[»]
1UJLNMR-A570-611[»]
2L0WNMR-A1-135[»]
2L1MNMR-A1-135[»]
2L4RNMR-A1-135[»]
2LE7NMR-A532-551[»]
2N7GNMR-A734-864[»]
4HP9X-ray2.12A10-135[»]
4HQAX-ray1.96A1-135[»]
5VA1electron microscopy3.70A1-1159[»]
5VA2electron microscopy3.80A1-1159[»]
5VA3electron microscopy4.00A1-1159[»]
ProteinModelPortaliQ12809.
SMRiQ12809.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ12809.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini41 – 70PASPROSITE-ProRule annotationAdd BLAST30
Domaini92 – 144PACPROSITE-ProRule annotationAdd BLAST53

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi624 – 629Selectivity filterBy similarity6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi297 – 300Poly-Pro4

Domaini

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.

Sequence similaritiesi

Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.1/KCNH2 sub-subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0498. Eukaryota.
ENOG410XPSE. LUCA.
GeneTreeiENSGT00760000118772.
HOGENOMiHOG000207541.
HOVERGENiHBG052232.
InParanoidiQ12809.
KOiK04905.
OMAiGPWGESP.
OrthoDBiEOG091G024C.
PhylomeDBiQ12809.
TreeFamiTF313130.

Family and domain databases

CDDicd00130. PAS. 1 hit.
Gene3Di2.60.120.10. 1 hit.
InterProiView protein in InterPro
IPR018490. cNMP-bd-like.
IPR000595. cNMP-bd_dom.
IPR005821. Ion_trans_dom.
IPR003938. K_chnl_volt-dep_EAG/ELK/ERG.
IPR003967. K_chnl_volt-dep_ERG.
IPR001610. PAC.
IPR000014. PAS.
IPR000700. PAS-assoc_C.
IPR014710. RmlC-like_jellyroll.
PfamiView protein in Pfam
PF00027. cNMP_binding. 1 hit.
PF00520. Ion_trans. 1 hit.
PF13426. PAS_9. 1 hit.
PRINTSiPR01463. EAGCHANLFMLY.
PR01470. ERGCHANNEL.
SMARTiView protein in SMART
SM00100. cNMP. 1 hit.
SM00086. PAC. 1 hit.
SUPFAMiSSF51206. SSF51206. 1 hit.
SSF55785. SSF55785. 1 hit.
TIGRFAMsiTIGR00229. sensory_box. 1 hit.
PROSITEiView protein in PROSITE
PS50042. CNMP_BINDING_3. 1 hit.
PS50113. PAC. 1 hit.
PS50112. PAS. 1 hit.

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Experimental confirmation may be lacking for some isoforms.
Isoform A (identifier: Q12809-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        10         20         30         40         50
MPVRRGHVAP QNTFLDTIIR KFEGQSRKFI IANARVENCA VIYCNDGFCE 
        60         70         80         90        100
LCGYSRAEVM QRPCTCDFLH GPRTQRRAAA QIAQALLGAE ERKVEIAFYR 
       110        120        130        140        150
KDGSCFLCLV DVVPVKNEDG AVIMFILNFE VVMEKDMVGS PAHDTNHRGP 
       160        170        180        190        200
PTSWLAPGRA KTFRLKLPAL LALTARESSV RSGGAGGAGA PGAVVVDVDL 
       210        220        230        240        250
TPAAPSSESL ALDEVTAMDN HVAGLGPAEE RRALVGPGSP PRSAPGQLPS 
       260        270        280        290        300
PRAHSLNPDA SGSSCSLART RSRESCASVR RASSADDIEA MRAGVLPPPP 
       310        320        330        340        350
RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF VDLKGDPFLA 
       360        370        380        390        400
SPTSDREIIA PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI 
       410        420        430        440        450
LHYSPFKAVW DWLILLLVIY TAVFTPYSAA FLLKETEEGP PATECGYACQ 
       460        470        480        490        500
PLAVVDLIVD IMFIVDILIN FRTTYVNANE EVVSHPGRIA VHYFKGWFLI 
       510        520        530        540        550
DMVAAIPFDL LIFGSGSEEL IGLLKTARLL RLVRVARKLD RYSEYGAAVL 
       560        570        580        590        600
FLLMCTFALI AHWLACIWYA IGNMEQPHMD SRIGWLHNLG DQIGKPYNSS 
       610        620        630        640        650
GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF SICVMLIGSL 
       660        670        680        690        700
MYASIFGNVS AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY 
       710        720        730        740        750
FQHAWSYTNG IDMNAVLKGF PECLQADICL HLNRSLLQHC KPFRGATKGC 
       760        770        780        790        800
LRALAMKFKT THAPPGDTLV HAGDLLTALY FISRGSIEIL RGDVVVAILG 
       810        820        830        840        850
KNDIFGEPLN LYARPGKSNG DVRALTYCDL HKIHRDDLLE VLDMYPEFSD 
       860        870        880        890        900
HFWSSLEITF NLRDTNMIPG SPGSTELEGG FSRQRKRKLS FRRRTDKDTE 
       910        920        930        940        950
QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES SEDEGPGRSS 
       960        970        980        990       1000
SPLRLVPFSS PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF 
      1010       1020       1030       1040       1050
WGDSRGRQYQ ELPRCPAPTP SLLNIPLSSP GRRPRGDVES RLDALQRQLN 
      1060       1070       1080       1090       1100
RLETRLSADM ATVLQLLQRQ MTLVPPAYSA VTTPGPGPTS TSPLLPVSPL 
      1110       1120       1130       1140       1150
PTLTLDSLSQ VSQFMACEEL PPGAPELPQE GPTRRLSLPG QLGALTSQPL 

HRHGSDPGS
Length:1,159
Mass (Da):126,655
Last modified:November 1, 1996 - v1
Checksum:iD03BD4F657641FBA
GO
Isoform B (identifier: Q12809-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-376: MPVRRGHVAP...THNVTEKVTQ → MAAPAGKASR...VRISSLVAQE

Show »
Length:819
Mass (Da):90,108
Checksum:i6C3F360C310C178A
GO
Isoform 4 (identifier: Q12809-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     139-195: Missing.

Note: No experimental confirmation available.
Show »
Length:1,102
Mass (Da):121,029
Checksum:i9501F6136737A384
GO
Isoform A-USO (identifier: Q12809-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     801-888: KNDIFGEPLN...GGFSRQRKRK → MGWGAGTGLE...HKQTLFASLK
     889-1159: Missing.

Note: Twice more abundant than isoform 1 in heart.
Show »
Length:888
Mass (Da):97,542
Checksum:i2C9582876D520E39
GO
Isoform B-USO (identifier: Q12809-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARV → MAAPAGKASRTGALRPRAQKGRVRRAVRISSLVAQE
     37-376: Missing.
     801-888: KNDIFGEPLN...GGFSRQRKRK → MGWGAGTGLE...HKQTLFASLK
     889-1159: Missing.

Show »
Length:548
Mass (Da):60,995
Checksum:iB479DEA5B3163A13
GO
Isoform 3.1 (identifier: Q12809-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-102: MPVRRGHVAP...KVEIAFYRKD → MSSHSA

Note: Primate-specific. Lacks a domain that is crucial for slow channel deactivation.
Show »
Length:1,063
Mass (Da):115,636
Checksum:i6C9DFEF9A38A3034
GO

Sequence cautioni

The sequence CAA09232 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07476516D → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472825Ensembl.1
Natural variantiVAR_07476620R → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473486Ensembl.1
Natural variantiVAR_06824926S → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472827Ensembl.1
Natural variantiVAR_00890729F → L in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472830Ensembl.1
Natural variantiVAR_07476730I → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472832Ensembl.1
Natural variantiVAR_06825031I → S in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472833Ensembl.1
Natural variantiVAR_07476832A → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472834Ensembl.1
Natural variantiVAR_00890833N → T in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473487Ensembl.1
Natural variantiVAR_07476941V → F in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472835Ensembl.1
Natural variantiVAR_07477043Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472836Ensembl.1
Natural variantiVAR_07477145N → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472839Ensembl.1
Natural variantiVAR_00990947G → V in LQT2. Corresponds to variant dbSNP:rs199473490Ensembl.1
Natural variantiVAR_07477249C → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472840Ensembl.1
Natural variantiVAR_07477353G → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473491Ensembl.1
Natural variantiVAR_00890953G → R in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472842Ensembl.1
Natural variantiVAR_07477454Y → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472843Ensembl.1
Natural variantiVAR_06825155S → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472844Ensembl.1
Natural variantiVAR_00891056R → Q in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472845Ensembl.1
Natural variantiVAR_07477557A → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472846Ensembl.1
Natural variantiVAR_07477658E → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472847Ensembl.1
Natural variantiVAR_07477758E → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473492Ensembl.1
Natural variantiVAR_07477858E → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472847Ensembl.1
Natural variantiVAR_07477964C → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473414Ensembl.1
Natural variantiVAR_07795364C → Y in LQT2; decreased protein stability. 1 PublicationCorresponds to variant dbSNP:rs199473415Ensembl.1
Natural variantiVAR_01437165T → P in LQT2; decreased protein stability. 3 PublicationsCorresponds to variant dbSNP:rs28933095Ensembl.1
Natural variantiVAR_00891166C → G in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473416Ensembl.1
Natural variantiVAR_07478068F → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473417Ensembl.1
Natural variantiVAR_07478170H → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473418Ensembl.1
Natural variantiVAR_00891270H → R in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199473419Ensembl.1
Natural variantiVAR_07478271G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473420Ensembl.1
Natural variantiVAR_07478372 – 80PRTQRRAAA → RPV in LQT2; unknown pathological significance. 1 Publication9
Natural variantiVAR_07478472P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473421Ensembl.1
Natural variantiVAR_00991072P → Q in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473421Ensembl.1
Natural variantiVAR_07478574T → M in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473422Ensembl.1
Natural variantiVAR_07478674T → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473666Ensembl.1
Natural variantiVAR_07478774T → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473422Ensembl.1
Natural variantiVAR_00891378A → P in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472848Ensembl.1
Natural variantiVAR_06825285A → V in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473494Ensembl.1
Natural variantiVAR_07478886L → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472851Ensembl.1
Natural variantiVAR_00891486L → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472851Ensembl.1
Natural variantiVAR_07478994V → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472852Ensembl.1
Natural variantiVAR_036669100R → G in LQT2; digenic; the patient also carries mutation N-1819 on SCN5A. 1 PublicationCorresponds to variant dbSNP:rs121912515Ensembl.1
Natural variantiVAR_068253100R → Q in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472855Ensembl.1
Natural variantiVAR_074790100R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121912515Ensembl.1
Natural variantiVAR_074791102D → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472857Ensembl.1
Natural variantiVAR_074792106F → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472858Ensembl.1
Natural variantiVAR_074793108C → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472859Ensembl.1
Natural variantiVAR_074794114P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472861Ensembl.1
Natural variantiVAR_074795125F → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473499Ensembl.1
Natural variantiVAR_074796141P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472864Ensembl.1
Natural variantiVAR_074797149G → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472865Ensembl.1
Natural variantiVAR_074798164R → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472866Ensembl.1
Natural variantiVAR_008915176R → W in LQT2. 1 PublicationCorresponds to variant dbSNP:rs36210422Ensembl.1
Natural variantiVAR_036670181R → Q. Corresponds to variant dbSNP:rs41308954Ensembl.1
Natural variantiVAR_014372189G → GGAG1 Publication1
Natural variantiVAR_074799218M → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472869Ensembl.1
Natural variantiVAR_068254238G → S in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473501Ensembl.1
Natural variantiVAR_074800242R → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472872Ensembl.1
Natural variantiVAR_074801251P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472873Ensembl.1
Natural variantiVAR_074802259D → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472876Ensembl.1
Natural variantiVAR_074803277A → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472878Ensembl.1
Natural variantiVAR_074804291M → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472881Ensembl.1
Natural variantiVAR_074805301R → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472883Ensembl.1
Natural variantiVAR_068255306G → W in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472884Ensembl.1
Natural variantiVAR_009911312R → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472885Ensembl.1
Natural variantiVAR_074806314G → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473504Ensembl.1
Natural variantiVAR_068256320S → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472886Ensembl.1
Natural variantiVAR_074807323D → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472887Ensembl.1
Natural variantiVAR_068257328R → C in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473505Ensembl.1
Natural variantiVAR_009912347P → S in LQT2. Corresponds to variant dbSNP:rs138776684Ensembl.1
Natural variantiVAR_074808402H → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473506Ensembl.1
Natural variantiVAR_074809410W → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472892Ensembl.1
Natural variantiVAR_074684413L → P in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472893Ensembl.1
Natural variantiVAR_068258420Y → C in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473507Ensembl.1
Natural variantiVAR_068259421T → M in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472894Ensembl.1
Natural variantiVAR_068260422A → T in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472895Ensembl.1
Natural variantiVAR_074810426P → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472896Ensembl.1
Natural variantiVAR_074811427Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472897Ensembl.1
Natural variantiVAR_074812427Y → H in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472898Ensembl.1
Natural variantiVAR_068261427Y → S in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472897Ensembl.1
Natural variantiVAR_074813428S → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472899Ensembl.1
Natural variantiVAR_074814431F → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472900Ensembl.1
Natural variantiVAR_008916436T → M in LQT2. Corresponds to variant dbSNP:rs199472901Ensembl.1
Natural variantiVAR_074815440P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473509Ensembl.1
Natural variantiVAR_074685444E → D in LQT2. 1 PublicationCorresponds to variant dbSNP:rs9770044Ensembl.1
Natural variantiVAR_014373451P → L in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472902Ensembl.1
Natural variantiVAR_068262456D → Y in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473510Ensembl.1
Natural variantiVAR_074816460D → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472903Ensembl.1
Natural variantiVAR_074817466D → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473511Ensembl.1
Natural variantiVAR_008578470N → D in LQT2; aberrant protein folding increases the association of mutant KCNH2 with CANX and results in defective protein trafficking. 2 PublicationsCorresponds to variant dbSNP:rs121912505Ensembl.1
Natural variantiVAR_074818473T → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472905Ensembl.1
Natural variantiVAR_008917474T → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472906Ensembl.1
Natural variantiVAR_074819475Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472907Ensembl.1
Natural variantiVAR_068263475Missing in LQT2. 1 Publication1
Natural variantiVAR_074820476V → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472908Ensembl.1
Natural variantiVAR_036671490A → T in LQT2; bradycardia-induced. 2 PublicationsCorresponds to variant dbSNP:rs28928905Ensembl.1
Natural variantiVAR_074821493Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472911Ensembl.1
Natural variantiVAR_074822493Y → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472911Ensembl.1
Natural variantiVAR_009178500 – 508Missing in LQT2. 9
Natural variantiVAR_074823501D → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472912Ensembl.1
Natural variantiVAR_074824501D → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472912Ensembl.1
Natural variantiVAR_036672525K → N in LQT2; located on the same allele as Pro-528. 1 PublicationCorresponds to variant dbSNP:rs199472913Ensembl.1
Natural variantiVAR_036673528R → P in LQT2; located on the same allele as Asn-525. 1 PublicationCorresponds to variant dbSNP:rs199472914Ensembl.1
Natural variantiVAR_009913531R → Q in LQT2. Corresponds to variant dbSNP:rs199473515Ensembl.1
Natural variantiVAR_074825531R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472915Ensembl.1
Natural variantiVAR_008579534R → C in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472916Ensembl.1
Natural variantiVAR_074826534R → L in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473516Ensembl.1
Natural variantiVAR_008918552L → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472918Ensembl.1
Natural variantiVAR_074827558A → E in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472919Ensembl.1
Natural variantiVAR_008919558A → P in LQT2. 1 PublicationCorresponds to variant dbSNP:rs121912516Ensembl.1
Natural variantiVAR_074686559L → H in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472920Ensembl.1
Natural variantiVAR_014374561A → T in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472921Ensembl.1
Natural variantiVAR_008580561A → V in LQT2; the mutation reduces wild-type channel expression. 4 PublicationsCorresponds to variant dbSNP:rs121912504Ensembl.1
Natural variantiVAR_068264562H → P in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472922Ensembl.1
Natural variantiVAR_074828562H → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472922Ensembl.1
Natural variantiVAR_008920564L → P in LQT2. Corresponds to variant dbSNP:rs199472924Ensembl.1
Natural variantiVAR_074829565A → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473518Ensembl.1
Natural variantiVAR_074830566C → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472925Ensembl.1
Natural variantiVAR_074831568W → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472927Ensembl.1
Natural variantiVAR_008921569Y → H in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473520Ensembl.1
Natural variantiVAR_068265571I → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472928Ensembl.1
Natural variantiVAR_074832571I → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472928Ensembl.1
Natural variantiVAR_008923572G → C in LQT2. 1 PublicationCorresponds to variant dbSNP:rs9333649Ensembl.1
Natural variantiVAR_074833572G → D in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473423Ensembl.1
Natural variantiVAR_008922572G → R in LQT2; severe form. 1 PublicationCorresponds to variant dbSNP:rs9333649Ensembl.1
Natural variantiVAR_068266572G → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs9333649Ensembl.1
Natural variantiVAR_074834572G → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473423Ensembl.1
Natural variantiVAR_008581582R → C in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs121912508Ensembl.1
Natural variantiVAR_074835582R → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473426Ensembl.1
Natural variantiVAR_074836584G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473428Ensembl.1
Natural variantiVAR_008924584G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199473428Ensembl.1
Natural variantiVAR_009914585W → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473430Ensembl.1
Natural variantiVAR_008925588N → D in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473431Ensembl.1
Natural variantiVAR_023840588N → K in SQT1. 2 PublicationsCorresponds to variant dbSNP:rs104894021Ensembl.1
Natural variantiVAR_074837593I → K in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs28928904Ensembl.1
Natural variantiVAR_008582593I → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs28928904Ensembl.1
Natural variantiVAR_009915593I → T in LQT2. Corresponds to variant dbSNP:rs28928904Ensembl.1
Natural variantiVAR_074838594G → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472931Ensembl.1
Natural variantiVAR_074839596P → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472933Ensembl.1
Natural variantiVAR_074840596P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472933Ensembl.1
Natural variantiVAR_068267596P → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472933Ensembl.1
Natural variantiVAR_074841597Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472934Ensembl.1
Natural variantiVAR_074842599S → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472935Ensembl.1
Natural variantiVAR_074843601G → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472936Ensembl.1
Natural variantiVAR_008926601G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472936Ensembl.1
Natural variantiVAR_008927604G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199473522Ensembl.1
Natural variantiVAR_074844605P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472938Ensembl.1
Natural variantiVAR_074845605P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472939Ensembl.1
Natural variantiVAR_074846609D → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472940Ensembl.1
Natural variantiVAR_074847609D → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472941Ensembl.1
Natural variantiVAR_009916609D → N in LQT2. Corresponds to variant dbSNP:rs199472941Ensembl.1
Natural variantiVAR_008928611Y → H in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472942Ensembl.1
Natural variantiVAR_008929612V → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472943Ensembl.1
Natural variantiVAR_008930613T → M in LQT2. 4 PublicationsCorresponds to variant dbSNP:rs199473524Ensembl.1
Natural variantiVAR_008931614A → V in LQT2. 5 PublicationsCorresponds to variant dbSNP:rs199472944Ensembl.1
Natural variantiVAR_074848615L → F in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472945Ensembl.1
Natural variantiVAR_014375615L → V in LQT2. Corresponds to variant dbSNP:rs199472945Ensembl.1
Natural variantiVAR_074849616Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472946Ensembl.1
Natural variantiVAR_074850621S → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472949Ensembl.1
Natural variantiVAR_068268622L → F in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473525Ensembl.1
Natural variantiVAR_068269623T → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472950Ensembl.1
Natural variantiVAR_074851626G → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472952Ensembl.1
Natural variantiVAR_074852626G → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472952Ensembl.1
Natural variantiVAR_014376626G → S in LQT2. Corresponds to variant dbSNP:rs199472953Ensembl.1
Natural variantiVAR_014377627F → L in LQT2. Corresponds to variant dbSNP:rs199473039Ensembl.1
Natural variantiVAR_008583628G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs121912507Ensembl.1
Natural variantiVAR_068270628G → V in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472955Ensembl.1
Natural variantiVAR_008932629N → D in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472956Ensembl.1
Natural variantiVAR_074853629N → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472957Ensembl.1
Natural variantiVAR_008933629N → K in LQT2. 1 PublicationCorresponds to variant dbSNP:rs41307295Ensembl.1
Natural variantiVAR_009179629N → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472957Ensembl.1
Natural variantiVAR_008935630V → A in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473526Ensembl.1
Natural variantiVAR_008934630V → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472958Ensembl.1
Natural variantiVAR_014378632P → S in LQT2. Corresponds to variant dbSNP:rs199473527Ensembl.1
Natural variantiVAR_008936633N → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472961Ensembl.1
Natural variantiVAR_074854634T → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472962Ensembl.1
Natural variantiVAR_074855635N → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472963Ensembl.1
Natural variantiVAR_068271635N → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472964Ensembl.1
Natural variantiVAR_074856635N → K in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472965Ensembl.1
Natural variantiVAR_074857637E → D in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472966Ensembl.1
Natural variantiVAR_014379637E → K in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472968Ensembl.1
Natural variantiVAR_014380638K → E in LQT2. Corresponds to variant dbSNP:rs199473528Ensembl.1
Natural variantiVAR_074858638K → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472969Ensembl.1
Natural variantiVAR_014381638Missing in LQT2; unknown pathological significance. 1 Publication1
Natural variantiVAR_008937640F → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472970Ensembl.1
Natural variantiVAR_068272640F → V in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473529Ensembl.1
Natural variantiVAR_068273641S → F in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472971Ensembl.1
Natural variantiVAR_074859644V → F in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472972Ensembl.1
Natural variantiVAR_074860644V → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472972Ensembl.1
Natural variantiVAR_074861645M → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472973Ensembl.1
Natural variantiVAR_014382645M → L in LQT2. Corresponds to variant dbSNP:rs199472974Ensembl.1
Natural variantiVAR_074862648G → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472975Ensembl.1
Natural variantiVAR_074863656F → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472977Ensembl.1
Natural variantiVAR_074864657G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472978Ensembl.1
Natural variantiVAR_074865660S → L in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472979Ensembl.1
Natural variantiVAR_074866662I → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472980Ensembl.1
Natural variantiVAR_068274671 – 675Missing in LQT2. 1 Publication5
Natural variantiVAR_074867678L → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472981Ensembl.1
Natural variantiVAR_074868687H → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472982Ensembl.1
Natural variantiVAR_074869693L → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472983Ensembl.1
Natural variantiVAR_036674696R → C in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472984Ensembl.1
Natural variantiVAR_074870696R → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473531Ensembl.1
Natural variantiVAR_074871711I → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473532Ensembl.1
Natural variantiVAR_068275721P → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472986Ensembl.1
Natural variantiVAR_074872728I → F in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473533Ensembl.1
Natural variantiVAR_068276744R → P in LQT2; impairs channel function; exhibits reduced activating currents compared to wild-type; cell surface trafficking is not impaired; does not exert dominant-negative effects on wild-type channel; the half-maximal activation voltage is not significantly affected by the mutation. 1 Publication1
Natural variantiVAR_074873749G → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472989Ensembl.1
Natural variantiVAR_036675752R → Q in LQT2. 1 PublicationCorresponds to variant dbSNP:rs121912512Ensembl.1
Natural variantiVAR_014383752R → W in LQT2. Corresponds to variant dbSNP:rs199472990Ensembl.1
Natural variantiVAR_074874757K → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472992Ensembl.1
Natural variantiVAR_074875767D → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472993Ensembl.1
Natural variantiVAR_074876770V → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472994Ensembl.1
Natural variantiVAR_068277774D → Y in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472995Ensembl.1
Natural variantiVAR_036676784R → W Predisposes to LQT2 and torsades de pointes while taking the drug amiodarone; in vitro studies confirmed a significant reduction in potassium currents; the ECG abnormalities reversed on drug withdrawal. 2 PublicationsCorresponds to variant dbSNP:rs12720441Ensembl.1
Natural variantiVAR_068278788E → D in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473535Ensembl.1
Natural variantiVAR_074877788E → K in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472997Ensembl.1
Natural variantiVAR_074878791 – 799Missing in LQT2; unknown pathological significance. 1 Publication9
Natural variantiVAR_074879791R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138498207Ensembl.1
Natural variantiVAR_074880800G → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472998Ensembl.1
Natural variantiVAR_014384805F → C in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472999Ensembl.1
Natural variantiVAR_014385805F → S in LQT2. Corresponds to variant dbSNP:rs199472999Ensembl.1
Natural variantiVAR_074881806G → E in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473000Ensembl.1
Natural variantiVAR_008938818S → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs121912510Ensembl.1
Natural variantiVAR_074882818S → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473537Ensembl.1
Natural variantiVAR_068279820G → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473001Ensembl.1
Natural variantiVAR_008584822V → M in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs121912506Ensembl.1
Natural variantiVAR_014386823R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473538Ensembl.1
Natural variantiVAR_068280837D → G in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473004Ensembl.1
Natural variantiVAR_074883837D → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473005Ensembl.1
Natural variantiVAR_074884846P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473006Ensembl.1
Natural variantiVAR_074885861N → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473007Ensembl.1
Natural variantiVAR_014387861N → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs121912513Ensembl.1
Natural variantiVAR_074886885R → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143512106Ensembl.1
Natural variantiVAR_068281887R → H in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473432Ensembl.1
Natural variantiVAR_074887894R → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473433Ensembl.1
Natural variantiVAR_074888894R → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473668Ensembl.1
Natural variantiVAR_014388897K → T2 PublicationsCorresponds to variant dbSNP:rs1805123Ensembl.1
Natural variantiVAR_074889903G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473669Ensembl.1
Natural variantiVAR_074890906S → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473435Ensembl.1
Natural variantiVAR_068282913A → V in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs77331749Ensembl.1
Natural variantiVAR_014389917P → L in LQT2. Corresponds to variant dbSNP:rs76420733Ensembl.1
Natural variantiVAR_074891920R → Q in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473670Ensembl.1
Natural variantiVAR_074892920R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473438Ensembl.1
Natural variantiVAR_074893922R → Q in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473439Ensembl.1
Natural variantiVAR_014390922R → W in LQT2. Corresponds to variant dbSNP:rs199473440Ensembl.1
Natural variantiVAR_074894924G → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473009Ensembl.1
Natural variantiVAR_074895924G → E in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473009Ensembl.1
Natural variantiVAR_068283925G → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473010Ensembl.1
Natural variantiVAR_074896937S → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473540Ensembl.1
Natural variantiVAR_036677948R → C in LQT2. 1 PublicationCorresponds to variant dbSNP:rs121912514Ensembl.1
Natural variantiVAR_074897968P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473017Ensembl.1
Natural variantiVAR_068284983T → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs149955375Ensembl.1
Natural variantiVAR_068285996N → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473018Ensembl.1
Natural variantiVAR_0748981005R → Q in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473019Ensembl.1
Natural variantiVAR_0748991007R → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473542Ensembl.1
Natural variantiVAR_0366791016P → L. Corresponds to variant dbSNP:rs41313074Ensembl.1
Natural variantiVAR_0366781016P → S. Corresponds to variant dbSNP:rs41307280Ensembl.1
Natural variantiVAR_0366801020P → S. Corresponds to variant dbSNP:rs41307274Ensembl.1
Natural variantiVAR_0366811026P → L. Corresponds to variant dbSNP:rs41307271Ensembl.1
Natural variantiVAR_0749001033R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473021Ensembl.1
Natural variantiVAR_0682861036G → D in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473022Ensembl.1
Natural variantiVAR_0749011038V → M in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473544Ensembl.1
Natural variantiVAR_0749021049L → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473026Ensembl.1
Natural variantiVAR_0366821055R → Q. Corresponds to variant dbSNP:rs41307270Ensembl.1
Natural variantiVAR_0749031066L → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473027Ensembl.1
Natural variantiVAR_0749041078Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473029Ensembl.1
Natural variantiVAR_0749051093P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473545Ensembl.1
Natural variantiVAR_0749061115M → V in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473546Ensembl.1
Natural variantiVAR_0749071153H → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473035Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0009651 – 376MPVRR…EKVTQ → MAAPAGKASRTGALRPRAQK GRVRRAVRISSLVAQE in isoform B. 3 PublicationsAdd BLAST376
Alternative sequenceiVSP_0478771 – 102MPVRR…FYRKD → MSSHSA in isoform 3.1. 1 PublicationAdd BLAST102
Alternative sequenceiVSP_0478781 – 36MPVRR…ANARV → MAAPAGKASRTGALRPRAQK GRVRRAVRISSLVAQE in isoform B-USO. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_04787937 – 376Missing in isoform B-USO. 1 PublicationAdd BLAST340
Alternative sequenceiVSP_000966139 – 195Missing in isoform 4. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_047880801 – 888KNDIF…QRKRK → MGWGAGTGLEMPSAASRGAS LLNMQSLGLWTWDCLQGHWA PLIHLNSGPPSGAMERSPTW GEAAELWGSHILLPFRIRHK QTLFASLK in isoform A-USO and isoform B-USO. 3 PublicationsAdd BLAST88
Alternative sequenceiVSP_047881889 – 1159Missing in isoform A-USO and isoform B-USO. 3 PublicationsAdd BLAST271

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U04270 mRNA. Translation: AAA62473.1.
AB009071 Genomic DNA. Translation: BAA37096.1.
AB044806 mRNA. Translation: BAB19682.1.
AF363636 mRNA. Translation: AAL37559.1.
AJ512214 mRNA. Translation: CAD54447.1.
AJ609614 mRNA. Translation: CAE82156.1.
FJ938021 mRNA. Translation: ACR24650.1.
DQ784808 Genomic DNA. Translation: ABQ01243.1.
AC006343 Genomic DNA. No translation available.
AC011234 Genomic DNA. No translation available.
CH471173 Genomic DNA. Translation: EAW54072.1.
AJ010538
, AJ010539, AJ010540, AJ010541, AJ010542, AJ010543, AJ010544, AJ010545, AJ010546, AJ010547, AJ010548, AJ010549, AJ010550, AJ010551 Genomic DNA. Translation: CAA09232.1. Sequence problems.
CH471173 Genomic DNA. Translation: EAW54075.1.
BC001914 mRNA. Translation: AAH01914.2.
BC004311 mRNA. Translation: AAH04311.2.
AF052728 mRNA. Translation: AAC69709.1.
CCDSiCCDS5910.1. [Q12809-1]
CCDS5911.1. [Q12809-2]
PIRiI38465.
RefSeqiNP_000229.1. NM_000238.3. [Q12809-1]
NP_001191727.1. NM_001204798.1. [Q12809-6]
NP_742053.1. NM_172056.2. [Q12809-5]
NP_742054.1. NM_172057.2. [Q12809-2]
UniGeneiHs.647099.

Genome annotation databases

EnsembliENST00000262186; ENSP00000262186; ENSG00000055118. [Q12809-1]
ENST00000330883; ENSP00000328531; ENSG00000055118. [Q12809-2]
GeneIDi3757.
KEGGihsa:3757.
UCSCiuc003wib.4. human. [Q12809-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiKCNH2_HUMAN
AccessioniPrimary (citable) accession number: Q12809
Secondary accession number(s): A5H1P7
, C4PFH9, D3DX04, O75418, O75680, Q708S9, Q9BT72, Q9BUT7, Q9H3P0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1996
Last modified: July 5, 2017
This is version 198 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families