Junctophilin-2 N-Terminal Fragment

Preferred Label : Junctophilin-2 N-Terminal Fragment;

NCIt synonyms : JPH2; JP2NT; Junctophilin-2 N-Terminal Fragment Chain;

NCIt definition : Junctophilin-2 N-terminal fragment (572 aa, 61 kDa) is encoded by the human JPH2 gene. This protein plays a role in transcription repression of target genes implicated in cell growth and differentiation, hypertrophy, inflammation and fibrosis during cardiac stress.;

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). This truncated form has a bipartite nuclear localization signal (bNLS) and Ala-rich (alanine-rich; ARR) regions, which are involved in DNA binding and transcriptional repression. (UniProt);

NCI Metathesaurus CUI : CL1920719;

Details

Origin ID

C201860;

UMLS CUI

C5890968;

OMIM relation
- Junctophilin 2 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
gene_encodes_gene_product
- JPH2 Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
- Transcription Factor Gene [NCIt concept]
- Transcription Regulation Gene [NCIt concept]
gene_product_expressed_in_tissue
- Myocardium [NCIt concept]
- Skeletal Muscle Tissue [NCIt concept]
gene_product_has_associated_anatomy
- Nucleus [NCIt concept]
gene_product_has_biochemical_function
- DNA Binding Protein [NCIt concept]
- Transcription Repressor/Corepressor [NCIt concept]
gene_product_has_structural_domain_or_motif
- Nuclear Localization Signal [NCIt concept]
gene_product_plays_role_in_biological_process
- DNA Binding [NCIt concept]
- Stress Response Signaling [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]

Keyword's position in hierarchy(ies) :

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