Oncogene SIS - CISMeF

Preferred Label : Oncogene SIS;

NCIt synonyms : Oncogene V-SIS; Oncogene, V-SIS; Simian Sarcoma Virus Oncogene;

NCIt definition : Human Oncogene SIS is a mutated variant of PDGFB Gene (PDGF/VEGF Family), which encodes 2 alternative isoforms of 241-aa 27-kDa (precursor) Platelet-Derived Growth Factor-Beta Chain, a potent mitogenic factor for mesenchymal cells characterized by a motif of eight cysteines and released by platelets upon wounding to stimulate adjacent cell growth; PDGF activates a RAS/PIK3/AKT1/IKK/NFKB1 pathway. PDGFB can exist as a disulfide-linked homodimer or heterodimer with Platelet-Derived Growth Factor Alpha. AA, BB, and AB, dimers bind to PDGF receptor and elicit a variety of cellular responses. A and B homodimers are implicated in transformation. PDGFB mutations are associated with meningioma. Reciprocal t(17;22)(q22;q13) translocations with COL1A1 result in unregulated growth factor expression and are associated with DFSP. Oncogene SIS disrupts normal cell function.;

Details

Origin ID

C17135;

UMLS CUI

C5441593;

Automatic exact mappings (from CISMeF team)
- Platelet-derived growth factor, beta polypeptide [OMIM gene]
- genes, sis [MeSH Descriptor]
- platelet derived growth factor subunit B [ORDO Gene]
- platelet derived growth factor subunit B [HGNC gene]
- v-sis genes [MeSH concept]
OMIM relation
- Platelet-derived growth factor, beta polypeptide [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- v-sis genes [MeSH concept]
allele_in_chromosomal_location
- 22q12.3-q13.1 [NCIt concept]
gene_associated_with_disease
- Dermatofibrosarcoma Protuberans [NCIt concept]
- Meningioma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation [NCIt concept]
- Signal Transduction [NCIt concept]
- Tumorigenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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