INPPL1 wt Allele

Preferred Label : INPPL1 wt Allele;

NCIt synonyms : Inositol Polyphosphate Phosphatase-Like 1 Gene; SHIP2; Inositol Polyphosphate Phosphatase Like 1 wt Allele; OPSMD;

NCIt definition : Human INPPL1 wild-type allele is located in the vicinity of 11q13.4 and is approximately 15 kb in length. This allele, which encodes phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 protein, is involved in the regulation of PI3K-dependent insulin signaling. Mutations in the gene are associated with opsismodysplasia.;

NCIt note : Polymorphisms in the INPPL1 gene are have been associated with susceptiblitity to type 2 diabetes mellitus. (J. Clin. Endocr. Metab.2005. 90: 2911-2919.);

NCI Metathesaurus CUI : CL1382867;

GenBank Accession Number : Y14385;

Details

Origin ID

C170415;

UMLS CUI

C5401251;

Automatic exact mappings (from CISMeF team)
- Inositol polyphosphate phosphatase-like 1 [OMIM gene]
- Opsismodysplasia [OMIM Phenotype]
- Two vessels [LOINC System]
- inositol polyphosphate phosphatase like 1 [ORDO Gene]
OMIM relation
- Inositol polyphosphate phosphatase-like 1 [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_in_chromosomal_location
- 11q13.4 [NCIt concept]
gene_is_element_in_pathway
- B Cell Receptor Signaling Pathway [NCIt concept]
- Class I PI3K Signaling Pathway [NCIt concept]
- Ephrin A2 Forward Signaling Pathway [NCIt concept]
- Fc Gamma Receptor-Mediated Phagocytosis Pathway [NCIt concept]
- Inositol Phosphate Metabolism Pathway [NCIt concept]
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- Phosphatidylinositol Signaling System Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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