Potassium Voltage-Gated Channel Subfamily H Member 2

Preferred Label : Potassium Voltage-Gated Channel Subfamily H Member 2;

NCIt synonyms : Ether-A-Go-Go-Related Protein 1; Ether-A-Go-Go-Related Potassium Channel Protein; H-ERG; hERG-1; Eag-Related Protein 1; ERG-1; hERG1; KCNH2; Eag Homolog; Ether-A-Go-Go-Related Gene Potassium Channel 1; Voltage-Gated Potassium Channel Subunit Kv11.1;

NCIt definition : Potassium voltage-gated channel subfamily H member 2 (1159 aa, 127 kDa) is encoded by the human KCNH2 gene. This protein plays a role in the formation of pores in voltage-gated inwardly rectifying potassium channels.;

NCIt note : There are at least 6 isoforms of potassium voltage-gated channel subfamily H member 2, which are produced by alternative splicing. At least 2 isoforms include sequences encoded by the USO exon (A-USO and B-USO) and have no channel activity by themselves; instead the USO isoforms form heterotetramers with other isoforms, which promotes both intracellular retention and ubiquitin-dependent degradation. (UniProt and Mol Cell Biol. 2008;28:5043-60.);

NCI Metathesaurus CUI : CL599620;

PubMed : 18559421;

Details

Origin ID

C202638;

UMLS CUI

C4308143;

OMIM relation
- Potassium channel, voltage-gated, subfamily h, member 2 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- KCNH2 protein, human [MeSH Supplementary Concept]
gene_encodes_gene_product
- Ion Channel Protein Gene [NCIt concept]
- KCNH2 Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- Transport Protein Gene [NCIt concept]
gene_product_expressed_in_tissue
- Brain [NCIt concept]
- Cardiac Tissue [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
- Gated Ion Channel [NCIt concept]
- Ion Channel [NCIt concept]
- Potassium Channel [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Cardiac Muscle Contraction [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Potassium Channel Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
- Voltage-Gated Potassium Ion Channel Activation [NCIt concept]

Keyword's position in hierarchy(ies) :

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