| Predicate | Object |
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| rdf:type | |
| http://www.biopax.org/relea... |
cpath:CPATH-LOCAL-17511,
cpath:CPATH-LOCAL-17512,
cpath:CPATH-LOCAL-17513,
cpath:CPATH-LOCAL-17514,
cpath:CPATH-LOCAL-17515,
cpath:CPATH-LOCAL-17516,
cpath:CPATH-LOCAL-17517,
cpath:CPATH-LOCAL-17518,
cpath:CPATH-LOCAL-17519,
cpath:CPATH-LOCAL-17520,
cpath:CPATH-LOCAL-17521,
cpath:CPATH-LOCAL-17522,
cpath:CPATH-LOCAL-17523,
cpath:CPATH-LOCAL-17524,
cpath:CPATH-LOCAL-26546
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| http://www.biopax.org/relea... |
Potassium voltage-gated channel subfamily H member 2
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| http://www.biopax.org/relea... |
KCNH2_HUMAN
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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
ERG-1,
Eag homolog,
Eag-related protein 1,
Ether-a-go-go-related gene potassium channel 1,
Ether-a-go-go-related protein 1,
H-ERG,
Voltage-gated potassium channel subunit Kv11.1,
hERG-1,
hERG1
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| http://www.biopax.org/relea... |
FUNCTION: 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). Isoform 3 has no channel activity by itself, but modulates channel characteristics when associated with isoform 1. SUBUNIT: The 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. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q12809-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q12809-2; Sequence=VSP_000965; Name=4; IsoId=Q12809-4; Sequence=VSP_000966; TISSUE SPECIFICITY: Highly expressed in heart and brain. DOMAIN: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. PTM: Phosphorylated on serine and threonine residues. Phosphorylation by PKA inhibits ion conduction. DISEASE: Defects in KCNH2 are the cause of long QT syndrome type 2 (LQT2) [MIM:613688]. Long QT syndromes are heart disorders 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. Deafness is often associated with LQT2. DISEASE: Defects in KCNH2 are the cause of short QT syndrome type 1 (SQT1) [MIM:609620]. Short QT syndromes are heart disorders characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. They cause syncope and sudden death. SIMILARITY: Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.1/KCNH2 sub-subfamily. SIMILARITY: Contains 1 cyclic nucleotide-binding domain. SIMILARITY: Contains 1 PAC (PAS-associated C-terminal) domain. SIMILARITY: Contains 1 PAS (PER-ARNT-SIM) domain. SEQUENCE CAUTION: Sequence=AAC69709.1; Type=Miscellaneous discrepancy; Note=Cloning artifact; Sequence=AAH01914.2; Type=Miscellaneous discrepancy; Note=Cloning artifact; Sequence=BAB19682.1; Type=Miscellaneous discrepancy; Note=Cloning artifact; Sequence=CAA09232.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNH2"; WEB RESOURCE: Name=Wikipedia; Note=Ether-a-go-go potassium channels entry; URL="http://en.wikipedia.org/wiki/Ether-a-go-go_potassium_channels"; GENE SYNONYMS: ERG ERG1 HERG. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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