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PDGFB

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Identifiers
SymbolsPDGFB ; IBGC5; PDGF-2; PDGF2; SIS; SSV; c-sis
External IDsOMIM190040 MGI97528 HomoloGene74303 GeneCards: PDGFB Gene
RNA expression pattern
File:PBB GE PDGFB 204200 s at tn.png
File:PBB GE PDGFB 216061 x at tn.png
File:PBB GE PDGFB 217112 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez515518591
EnsemblENSG00000100311ENSMUSG00000000489
UniProtP01127P31240
RefSeq (mRNA)NM_002608NM_011057
RefSeq (protein)NP_002599NP_035187
Location (UCSC)Chr 22:
39.62 – 39.64 Mb
Chr 15:
80 – 80.01 Mb
PubMed search[1][2]

Platelet-derived growth factor subunit B is a protein that in humans is encoded by the PDGFB gene.[1][2]

Function

The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a motif of eight cysteines. This gene product can exist either as a homodimer (PDGF-BB) or as a heterodimer with the platelet-derived growth factor alpha (PDGFA) polypeptide (PDGF-AB), where the dimers are connected by disulfide bonds.

Clinical significance

Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for COL1A1 are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans resulting from unregulated expression of growth factor. Two splice variants have been identified for this gene.[3]

See also

References

  1. Ratner L, Josephs SF, Jarrett R, Reitz MS, Wong-Staal F (Sep 1985). "Nucleotide sequence of transforming human c-sis cDNA clones with homology to platelet-derived growth factor". Nucleic Acids Res 13 (14): 5007–18. PMC 321845. PMID 2991848. doi:10.1093/nar/13.14.5007. 
  2. Clements JM, Bawden LJ, Bloxidge RE, Catlin G, Cook AL, Craig S, Drummond AH, Edwards RM, Fallon A, Green DR (Jan 1992). "Two PDGF-B chain residues, arginine 27 and isoleucine 30, mediate receptor binding and activation". EMBO J 10 (13): 4113–20. PMC 453161. PMID 1661670. 
  3. "Entrez Gene: PDGFB platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)". 

Further reading

  • Kurup S, Abramsson A, Li JP, Lindahl U, Kjellen L, Betsholtz C, Gerhardt H, Spillmann D (2006). "Heparan sulphate requirement in platelet-derived growth factor B-mediated pericyte recruitment". Biochem. Soc. Trans. 34 (Pt 3): 454–5. PMID 16709185. doi:10.1042/BST0340454. 
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