PLCG2 wt Allele

Preferred Label : PLCG2 wt Allele;

NCIt synonyms : Phospholipase C, Gamma 2 (Phosphatidylinositol-Specific) wt Allele; APLAID; PLC-gamma-2; FCAS3; PLCgamma2; Phospholipase C, Phosphatidylinositol-Specific Gene; Phospholipase C, Gamma-2 Gene; PLC-IV; Phospholipase C Gamma 2 wt Allele;

NCIt definition : Human PLCG2 wild-type allele is located within the vicinity of 16q24.1 and is approximately 179 kb in length. This allele, which encodes 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma 2 protein, plays a role in the hydrolysis of 1-phosphatidylinositol-4,5-biphosphate. This results in the production of specific second messengers involved in signal transduction.;

GenBank Accession Number : NM_002661;

Détails

Origin ID

C49383;

UMLS CUI

C1709409;

Automatic exact mappings (from CISMeF team)
- Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) [SNOMED CT concept]
- Autoinflammation, antibody deficiency, and immune dysregulation [OMIM Phenotype]
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation [ORDO Disease]
- Familial cold autoinflammatory syndrome 3 [OMIM Phenotype]
- phospholipase c gamma [MeSH Descriptor]
OMIM relation
- Phospholipase C, gamma-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_in_chromosomal_location
- 16q24.1 [NCIt concept]
gene_is_element_in_pathway
- B Cell Receptor Signaling Pathway [NCIt concept]
- BCR Immune Response Signaling Pathway [NCIt concept]
- Calcium-Mediated Signaling Pathway [NCIt concept]
- ERBB Family Signaling Pathway [NCIt concept]
- Epithelial Cell Signaling Pathway in Helicobacter pylori Infection [NCIt concept]
- Erythropoietin Signaling Pathway [NCIt concept]
- Fc Epsilon Receptor I Signaling Pathway KEGG [NCIt concept]
- Fc Gamma Receptor-Mediated Phagocytosis Pathway [NCIt concept]
- Glioblastoma Multiforme Pathway [NCIt concept]
- Inositol Phosphate Metabolism Pathway [NCIt concept]
- Leukocyte Transendothelial Migration Pathway [NCIt concept]
- Natural Killer Cell-Mediated Cytotoxicity Pathway [NCIt concept]
- Neurotrophin Signaling Pathway [NCIt concept]
- Phosphatidylinositol Signaling System Pathway [NCIt concept]
- VEGF Signaling Pathway [NCIt concept]
- Vibrio cholerae Infection Pathway [NCIt concept]
gene_plays_role_in_process
- Fatty Acid Metabolism [NCIt concept]
- Hydrolysis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]
- Signal Transduction [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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