JPH2 Gene - CISMeF

Preferred Label : JPH2 Gene;

NCIt synonyms : Junctophilin 2 Gene;

NCIt related terms : JPH2;

NCIt definition : This gene is involved in the regulation of responses to cardiac stress, calcium ion signaling and linking the plasma membrane to the sarcoplasmic reticulum in cardiomyocytes.;

Details

Origin ID

C201856;

HGNC gene
- junctophilin 2 [HGNC gene]
OMIM relation
- Junctophilin 2 [OMIM gene]
gene_encodes_gene_product
- JPH2 Gene Product [NCIt concept]
- Junctophilin-2 [NCIt concept]
- Junctophilin-2 N-Terminal Fragment [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Familial Hypertrophic Cardiomyopathy Type 17 [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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