PLCB4 wt Allele

Preferred Label : PLCB4 wt Allele;

NCIt synonyms : PI-PLC; Phospholipase C, Beta 4 Gene; Phospholipase C Beta 4 wt Allele; DJ1119D9.2; Phopholipase C, Beta-4 Gene; ARCND2;

NCIt definition : Human PLCB4 wild-type allele is located within 20p12.3-p12.2 and is approximately 412 kb in length. This allele, which encodes 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 protein, plays a role in diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) synthesis. Mutation of the gene is associated with auriculocondylar syndrome 2.;

NCI Metathesaurus CUI : CL969899;

GenBank Accession Number : NM_000933;

Details

Origin ID

C160885;

UMLS CUI

C5202929;

Automatic exact mappings (from CISMeF team)
- phosphoinositide phospholipase C [MeSH Descriptor]
OMIM relation
- Phospholipase C, beta-4 [OMIM gene]
See also inter- (CISMeF)
- Auriculocondylar syndrome 2 [OMIM Phenotype]
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]
- Amoebiasis Pathway [NCIt concept]
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Chagas Disease Pathway [NCIt concept]
- Chemokine Signaling Pathway [NCIt concept]
- Gap Junction Assembly Pathway [NCIt concept]
- Gastric Acid Secretion Pathway [NCIt concept]
- Gonadotropin-Releasing Hormone Signaling Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Inositol Phosphate Metabolism Pathway [NCIt concept]
- Long-Term Depression Pathway [NCIt concept]
- Long-Term Potentiation Pathway [NCIt concept]
- Melanogenesis Pathway [NCIt concept]
- NOD-Like Receptor Signaling 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
- Hydrolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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