PDGFC

PDGFC
Identifiers
Aliases	PDGFC, FALLOTEIN, SCDGF, platelet derived growth factor C
External IDs	OMIM: 608452 MGI: 1859631 HomoloGene: 9423 GeneCards: PDGFC
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q32.1 Start 156,760,454 bp[1] End 156,971,799 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 E3 Start 80,943,723 bp[2] End 81,121,347 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland germinal epithelium tibia parietal pleura periodontal fiber kidney tubule metanephric glomerulus seminal vesicula stromal cell of endometrium retinal pigment epithelium Top expressed in vas deferens calvaria internal carotid artery renal corpuscle abdominal wall maxillary prominence hand medullary collecting duct iris cervix More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity protein binding growth factor activity platelet-derived growth factor receptor binding Cellular component Golgi membrane nucleus extracellular region endoplasmic reticulum lumen membrane cell surface extracellular exosome plasma membrane extracellular space cytoplasm cytosol Biological process positive regulation of ERK1 and ERK2 cascade cellular response to amino acid stimulus positive regulation of cell population proliferation bone development positive regulation of protein autophosphorylation positive regulation of phosphatidylinositol 3-kinase signaling multicellular organism development activation of transmembrane receptor protein tyrosine kinase activity central nervous system development embryo development positive regulation of cell division positive regulation of cell migration positive regulation of DNA replication positive regulation of MAP kinase activity animal organ morphogenesis digestive tract development regulation of peptidyl-tyrosine phosphorylation positive regulation of fibroblast proliferation platelet-derived growth factor receptor signaling pathway blood coagulation regulation of signaling receptor activity embryonic organ development positive regulation of cold-induced thermogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56034 54635 Ensembl ENSG00000145431 ENSMUSG00000028019 UniProt Q9NRA1 Q8CI19 RefSeq (mRNA) NM_016205 NM_019971 NM_001357746 RefSeq (protein) NP_057289 NP_064355 NP_001344675 Location (UCSC) Chr 4: 156.76 – 156.97 Mb Chr 3: 80.94 – 81.12 Mb PubMed search [3] [4]
Wikidata
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Platelet-derived growth factor C, also known as PDGF-C, is a 345-amino acid protein that in humans is encoded by the PDGFC gene.^[5][6] Platelet-derived growth factors are important in connective tissue growth, survival and function, and consist of disulphide-linked dimers involving two polypeptide chains, PDGF-A and PDGF-B. PDGF-C is a member of the PDGF/VEGF family of growth factors with a unique two-domain structure and expression pattern. PDGF-C was not previously identified with PDGF-A and PDGF-B, possibly because it may be that it is synthesized and secreted as a latent growth factor, requiring proteolytic removal of the N-terminal CUB domain for receptor binding and activation.^[7]

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 core motif of eight cysteines. This gene product appears to form only homodimers. It differs from the platelet-derived growth factor alpha and beta polypeptides in having an unusual N-terminal domain, the CUB domain.^[6]

PDGF-C is a key component of the PDGFR-α signaling pathway and has a specific role in palatogenesis and the morphogenesis of the integumentary tissue. The phenotypes of compound mutants imply that PDGF-C and PDGF-A may function as principal ligands for PDGFR-α.^[8]

Mouse knockout studies show that PDGF-C is required for palatogenesis. Although human studies support an etiologic role for several genes in cleft lip and palate etiology (PVRL1, IRF6, and MSX1), expression levels of the mouse homologs of these genes were unaltered in Pdgfc−/− mutant embryos that develop clefts, suggesting that their activity is not related to PDGF-C signaling in palatogenesis, so PDGF-C signaling is a new pathway in palatogenesis.^[9]

Interactions

PDGFC has been shown to interact with PDGFRA.^[10]

PDGF-C is a latent growth factor with proteolytic activation, and the processing enzyme might be controlled by the other CLP-associated genes that may indirectly connect to PDGF-C signaling. Notably, a 30-cM region on human chromosome 4, where the PDGFC gene maps, shows strong linkage association with CLP26, and clinical genetic data further suggest a potential link between PDGFC gene polymorphism and cleft lip and palate.^[8]

References

Further reading

External links

• PDGFC human gene location in the UCSC Genome Browser.
• PDGFC human gene details in the UCSC Genome Browser.