MGP Database

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MGP001718

UniProt Annotations

Entry Information
Gene Namepotassium channel, voltage gated eag related subfamily H, member 2
Protein EntryKCNH2_HUMAN
UniProt IDQ12809
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=6; Comment=Experimental confirmation may be lacking for some isoforms.; Name=A; IsoId=Q12809-1; Sequence=Displayed; Name=B; IsoId=Q12809-2; Sequence=VSP_000965; Name=4; IsoId=Q12809-4; Sequence=VSP_000966; Note=No experimental confirmation available.; Name=A-USO; IsoId=Q12809-5; Sequence=VSP_047880, VSP_047881; Note=Twice more abundant than isoform 1 in heart.; Name=B-USO; IsoId=Q12809-6; Sequence=VSP_047878, VSP_047879, VSP_047880, VSP_047881; Name=3.1; IsoId=Q12809-7; Sequence=VSP_047877; Note=Primate-specific. Lacks a domain that is crucial for slow channel deactivation.;
DiseaseLong QT syndrome 2 (LQT2) [MIM:613688]: A 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. {ECO:0000269|PubMed:10086971, ECO:0000269|PubMed:10187793, ECO:0000269|PubMed:10220144, ECO:0000269|PubMed:10517660, ECO:0000269|PubMed:10735633, ECO:0000269|PubMed:10862094, ECO:0000269|PubMed:10973849, ECO:0000269|PubMed:12062363, ECO:0000269|PubMed:12354768, ECO:0000269|PubMed:12621127, ECO:0000269|PubMed:15051636, ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:16922724, ECO:0000269|PubMed:22314138, ECO:0000269|PubMed:7889573, ECO:0000269|PubMed:8635257, ECO:0000269|PubMed:8877771, ECO:0000269|PubMed:8914737, ECO:0000269|PubMed:9024139, ECO:0000269|PubMed:9452080, ECO:0000269|PubMed:9544837, ECO:0000269|PubMed:9600240, ECO:0000269|PubMed:9693036}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseShort QT syndrome 1 (SQT1) [MIM:609620]: A 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. {ECO:0000269|PubMed:14676148, ECO:0000269|PubMed:15828882}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
FunctionPore-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). Isoforms USO have no channel activity by themself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation. {ECO:0000269|PubMed:18559421}.
InteractionSelf; NbExp=6; IntAct=EBI-720643, EBI-720643;
PtmPhosphorylated on serine and threonine residues. Phosphorylation by PKA inhibits ion conduction. {ECO:0000269|PubMed:10837251, ECO:0000269|PubMed:19690332}.
Sequence CautionSequence=CAA09232.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.1/KCNH2 sub-subfamily. {ECO:0000305}.
SimilarityContains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00060}.
SimilarityContains 1 PAC (PAS-associated C-terminal) domain. {ECO:0000255|PROSITE-ProRule:PRU00141}.
SimilarityContains 1 PAS (PER-ARNT-SIM) domain. {ECO:0000255|PROSITE-ProRule:PRU00140}.
Subcellular LocationCell membrane {ECO:0000269|PubMed:18559421, ECO:0000269|PubMed:19412172}; Multi-pass membrane protein {ECO:0000269|PubMed:18559421, ECO:0000269|PubMed:19412172}.
SubunitThe potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimer with KCNH6/ERG2 and KCNH7/ERG3. Interacts with ALG10B (By similarity). Heteromultimer with KCNE1 and KCNE2. Interacts with CANX. {ECO:0000250, ECO:0000269|PubMed:10219239, ECO:0000269|PubMed:16361248, ECO:0000269|PubMed:9230439}.
Tissue SpecificityHighly expressed in heart and brain. Isoforms USO are frequently overexpressed in cancer cells. {ECO:0000269|PubMed:18559421}.
Web ResourceName=Wikipedia; Note=Ether-a-go-go potassium channels entry; URL="http://en.wikipedia.org/wiki/Ether-a-go-go_potassium_channels";
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