JPH2 wt Allele

Preferred Label : JPH2 wt Allele;

NCIt synonyms : JP2; CMD2E; Junctophilin 2 wt Allele; CMH17; JP-2;

NCIt definition : Human JPH2 wild-type allele is located in the vicinity of 20q13.12 and is approximately 81 kb in length. This allele, which encodes junctophilin-2 protein, plays a role in the coupling of excitation and contraction in cardiomyocytes and the response to cardiac stress. Mutation in the gene is associated in both dilated cardiomyopathy 2E and hypertrophic cardiomyopathy 17.;

NCI Metathesaurus CUI : CL1920720;

GenBank Accession Number : AL034419;

Details

Origin ID

C201857;

UMLS CUI

C5890876;

OMIM relation
- Junctophilin 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Calcium Homeostasis [NCIt concept]
- Ion Transport Process [NCIt concept]
- Muscle Contraction [NCIt concept]
- Myogenesis [NCIt concept]
- Stress Response Signaling [NCIt concept]
- Transcriptional Repression [NCIt concept]

Keyword's position in hierarchy(ies) :

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