KCNH2 wt Allele

Preferred Label : KCNH2 wt Allele;

NCIt synonyms : Kv11.1; HERG; Long QT Syndrome Type 2 Gene; H-ERG; ERG1; Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 2 Gene; Human Eag (Ether-A-Go-Go)-Related Gene 1; SQT1; HERG1; Ether-A-Go-Go-Related Potassium Channel Protein Gene; Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 2 Gene; Human Eag-Related Gene 1; Human Ether-A-Go-Go-Related Gene; Ether-A-Go-Go-Related, Human Gene; Potassium Channel, Voltage-Gated, Subfamily H, Member 2 Gene; Potassium Voltage-Gated Channel Subfamily H Member 2 wt Allele; ERG-1; LQT2;

NCIt definition : Human KCNH2 wild-type allele is located in the vicinity of 7q36.1 and is approximately 33 kb in length. This allele, which encodes potassium voltage-gated inwardly rectifying potassium channel KCNH2 protein, is involved in modulating the structure of voltage-gated inwardly rectifying potassium channels. Mutation of the gene is associated with long QT syndrome 2 and short QT syndrome 1.;

NCI Metathesaurus CUI : CL1921902;

GenBank Accession Number : U04270;

Détails

Origin ID

C202637;

UMLS CUI

C5890879;

OMIM relation
- Potassium channel, voltage-gated, subfamily h, member 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q36.1 [NCIt concept]
gene_plays_role_in_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]

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