PDGFRA wt Allele

Preferred Label : PDGFRA wt Allele;

NCIt synonyms : CD140A; PDGFR2; Platelet-Derived Growth Factor Receptor, Alpha Polypeptide wt Allele; PDGFRA;

NCIt definition : Human PDGFRA wild-type allele is located within 4q11-q13 and is approximately 69 kb in length. This allele, which encodes alpha platelet-derived growth factor receptor protein, plays a role in mitogenesis for cells of mesenchymal origin.;

NCIt note : Studies in knockout mice, where homozygosity is lethal, indicate that the alpha form of the platelet-derived growth factor receptor is particularly important for kidney development since mice heterozygous for the receptor exhibit defective kidney phenotypes.;

GenBank Accession Number : NM_006206;

Details

Origin ID

C52202;

UMLS CUI

C1705319;

OMIM relation
- Platelet-derived growth factor receptor, alpha [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
- 4q11-q13 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Gastrointestinal Stromal Tumor [NCIt concept]
- Inflammatory Fibroid Polyp [NCIt concept]
- Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement [NCIt concept]
gene_is_element_in_pathway
- Cell Migration Pathway [NCIt concept]
- EGF Receptor Downregulation by CBL Pathway [NCIt concept]
- Erk1/Erk2 MAPK Signaling Pathway [NCIt concept]
- PDGF Signaling Pathway [NCIt concept]
- Phospholipid Signaling Pathway [NCIt concept]
- Rac1 Cell Motility Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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