PDGFRB wt Allele

Preferred Label : PDGFRB wt Allele;

NCIt synonyms : PDGF-R-Beta; Platelet-Derived Growth Factor Receptor, Beta Polypeptide wt Allele; PDGFR1; JTK12; PDGFR; PDGFRB; PDGFR Beta; CD140B;

NCIt definition : Human PDGFRB wild-type allele is located within 5q31-q32 and is approximately 42 kb in length. This allele, which encodes beta platelet-derived growth factor receptor protein, is involved in mitogenesis for cells of mesenchymal origin. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia.;

NCIt note : This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome.;

GenBank Accession Number : NM_002609;

Details

Origin ID

C52203;

UMLS CUI

C1705320;

OMIM relation
- Platelet-derived growth factor receptor, beta [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
- 5q31-q32 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Infantile Myofibromatosis 1 [NCIt concept]
- Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement [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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