Junctophilin-2

Preferred Label : Junctophilin-2;

NCIt synonyms : Junctophilin 2; JPH2; Junctophilin Type 2; JP-2;

NCIt definition : Junctophilin-2 (696 aa, 74 kDa) is encoded by the human JPH2 gene. This protein is involved in linking the plasma membrane and the sarcoplasmic reticulum in skeletal and heart myocytes.;

NCIt note : The junctophilin-2 protein is cleaved by calpain in response to cardiac stress and leads to the release of the junctophilin-2 N-terminal fragment (JP2NT). (UniProt);

Details

Origin ID

C201859;

UMLS CUI

C3849827;

OMIM relation
- Junctophilin 2 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- JPH2 protein, human [MeSH Supplementary Concept]
- JPH2 protein, human [MeSH concept]
gene_encodes_gene_product
- JPH2 Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
- Structural Protein Gene [NCIt concept]
gene_product_expressed_in_tissue
- Myocardium [NCIt concept]
- Skeletal Muscle Tissue [NCIt concept]
gene_product_has_associated_anatomy
- Membrane of the Endoplasmic Reticulum [NCIt concept]
- Plasma Membrane [NCIt concept]
- Sarcoplasmic Reticulum [NCIt concept]
- Striated Muscle Cell [NCIt concept]
gene_product_has_biochemical_function
- Scaffolding Protein [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Transmembrane Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Calcium Homeostasis [NCIt concept]
- Ion Transport Process [NCIt concept]
- Muscle Contraction [NCIt concept]
- Myogenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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