PIK3R2 wt Allele

Preferred Label : PIK3R2 wt Allele;

NCIt synonyms : P85B; Phosphoinositide-3-Kinase, Regulatory Subunit 2 (Beta) Gene; p85-BETA; p85; MPPH; Phosphatidylinositol 3-Kinase, Regulatory Subunit, 85-kD, Beta Gene; MPPH1; Phosphatidylinositol 3-Kinase, Regulatory Subunit 2 Gene; Phosphoinositide-3-Kinase Regulatory Subunit 2 wt Allele;

NCIt definition : Human PIK3R2 wild-type allele is located within 19q13.2-q13.4 and is approximately 17 kb in length. This allele, which encodes phosphatidylinositol 3-kinase regulatory subunit beta protein, plays a role in the modulation of tyrosine phosphorylation.;

NCIt note : Mutations in the PIK3R2 gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1 (MPPH1).;

GenBank Accession Number : NM_005027;

Details

Origin ID

C101284;

UMLS CUI

C3541313;

OMIM relation
- Phosphatidylinositol 3-kinase, regulatory subunit 2 [OMIM gene]
See also inter- (CISMeF)
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [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
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Acute Myeloid Leukemia Pathway [NCIt concept]
- Aldosterone-Regulated Sodium Reabsorption Pathway [NCIt concept]
- Amoebiasis Pathway [NCIt concept]
- Apoptosis Pathway [NCIt concept]
- B Cell Receptor Signaling Pathway [NCIt concept]
- Bacterial Invasion of Epithelial Cell Pathway [NCIt concept]
- Chagas Disease Pathway [NCIt concept]
- Chemokine Signaling Pathway [NCIt concept]
- Chronic Myeloid Leukemia Pathway [NCIt concept]
- Colorectal Cancer Pathway [NCIt concept]
- ERBB Family Signaling Pathway [NCIt concept]
- Endometrial Cancer Pathway [NCIt concept]
- Fc Epsilon Receptor I Signaling Pathway KEGG [NCIt concept]
- Fc Gamma Receptor-Mediated Phagocytosis Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- Glioblastoma Multiforme Pathway [NCIt concept]
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- Jak-STAT Signaling Pathway [NCIt concept]
- Leukocyte Transendothelial Migration Pathway [NCIt concept]
- Melanoma Pathway [NCIt concept]
- Natural Killer Cell-Mediated Cytotoxicity Pathway [NCIt concept]
- Neurotrophin Signaling Pathway [NCIt concept]
- Non-Small Cell Lung Cancer Pathway [NCIt concept]
- Pancreatic Cancer Pathway [NCIt concept]
- Phosphatidylinositol Signaling System Pathway [NCIt concept]
- Progesterone-Mediated Oocyte Maturation Pathway [NCIt concept]
- Prostate Cancer Pathway [NCIt concept]
- Renal Cell Carcinoma Pathway [NCIt concept]
- T Cell Receptor Signaling Pathway KEGG [NCIt concept]
- Toll-Like Receptor Signaling Pathway [NCIt concept]
- Type II Diabetes Mellitus Pathway [NCIt concept]
- VEGF Signaling Pathway [NCIt concept]
- mTOR Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Platelet Activation [NCIt concept]
- Signal Transduction [NCIt concept]
- T-Cell Activation [NCIt concept]

Keyword's position in hierarchy(ies) :

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