ITPR2 wt Allele

Preferred Label : ITPR2 wt Allele;

NCIt synonyms : IP3R2; Inositol 1,4,5-Trisphosphate Receptor, Type 2 wt Allele; Inositol 1,4,5-Triphosphate Receptor, Type 2 Gene;

NCIt definition : Human ITPR2 wild-type allele is located in the vicinity of 12p11 and is approximately 498 kb in length. This allele, which encodes inositol 1,4,5-trisphosphate receptor type 2 protein, is involved in intracellular calcium release.;

NCIt note : There is a report of a chromosomal aberration involving the ETV6 gene and the ITPR2 gene, which is associated with breast cancer. (COSMIC);

GenBank Accession Number : D26350;

Details

Origin ID

C114577;

UMLS CUI

C3889706;

Automatic exact mappings (from CISMeF team)
- inositol 1,4,5-trisphosphate receptor type 2 [ORDO Gene]
- inositol 1,4,5-trisphosphate receptors [MeSH Descriptor]
OMIM relation
- Inositol 1,4,5-triphosphate receptor, type 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Gap Junction Assembly Pathway [NCIt concept]
- Gastric Acid Secretion Pathway [NCIt concept]
- Gonadotropin-Releasing Hormone Signaling Pathway [NCIt concept]
- Long-Term Depression Pathway [NCIt concept]
- Long-Term Potentiation Pathway [NCIt concept]
- Oocyte Meiosis Pathway [NCIt concept]
- Phosphatidylinositol Signaling System Pathway [NCIt concept]
- Salivary Secretion Pathway [NCIt concept]
- Vascular Smooth Muscle Contraction Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Calcium Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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