• Gene id: 56034

Gene Summary

• Gene Symbol: PDGFC   Gene   UCSC   Ensembl
• Aliases: FALLOTEIN, SCDGF
• Gene name: platelet derived growth factor C
• Alternate names: platelet-derived growth factor C, PDGF-C, VEGF-E, secretory growth factor-like protein, spinal cord-derived growth factor,
• Gene location: 4q32.1 (156971798: 156760453)     Exons: 9     NC_000004.12
• Gene summary(Entrez): 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 ap
• OMIM: 602045

Protein Summary

• Protein general information: Q9NRA1  
  • Name: Platelet derived growth factor C (PDGF C) (Fallotein) (Spinal cord derived growth factor) (SCDGF) (VEGF E) [Cleaved into: Platelet derived growth factor C, latent form (PDGFC latent form); Platelet derived growth factor C, receptor binding form (PDGFC rec
  • Length: 345  
  • Mass: 39029
  • Tissue specificity: Expressed in the fallopian tube, vascular smooth muscle cells in kidney, breast and colon and in visceral smooth muscle of the gastrointestinal tract. Highly expressed in retinal pigment epithelia. Expressed in medulloblastoma. In the
• Sequence:

  MSLFGLLLLTSALAGQRQGTQAESNLSSKFQFSSNKEQNGVQDPQHERIITVSTNGSIHSPRFPHTYPRNTVLVW
  RLVAVEENVWIQLTFDERFGLEDPEDDICKYDFVEVEEPSDGTILGRWCGSGTVPGKQISKGNQIRIRFVSDEYF
  PSEPGFCIHYNIVMPQFTEAVSPSVLPPSALPLDLLNNAITAFSTLEDLIRYLEPERWQLDLEDLYRPTWQLLGK
  AFVFGRKSRVVDLNLLTEEVRLYSCTPRNFSVSIREELKRTDTIFWPGCLLVKRCGGNCACCLHNCNECQCVPSK
  VTKKYHEVLQLRPKTGVRGLHKSLTDVALEHHEECDCVCRGSTGG

• Structural information:
  • Protein Domains: (46..16-)
    (/note="CUB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059"-)
  • Interpro: IPR000859  IPR029034  IPR029817  IPR000072  IPR035914  
  • Prosite: PS01180 PS50278
  • CDD: cd00041 cd00135
  • DIP: 59339
  • STRING: ENSP00000422464
• Other Databases: GeneCards:  PDGFC  Malacards:  PDGFC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005161	platelet-derived growth factor receptor binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0008284	positive regulation of cell population proliferation	IBA	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IBA	biological process
GO:0030335	positive regulation of cell migration	IBA	biological process
GO:0031954	positive regulation of protein autophosphorylation	IBA	biological process
GO:0043406	positive regulation of MAP kinase activity	IBA	biological process
GO:0048008	platelet-derived growth factor receptor signaling pathway	IBA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IBA	biological process
GO:0070851	growth factor receptor binding	IBA	molecular function
GO:0005161	platelet-derived growth factor receptor binding	IEA	molecular function
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0051781	positive regulation of cell division	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008083	growth factor activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0071230	cellular response to amino acid stimulus	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005161	platelet-derived growth factor receptor binding	IEA	molecular function
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0050730	regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0048565	digestive tract development	IEA	biological process
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA	biological process
GO:0005161	platelet-derived growth factor receptor binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0048008	platelet-derived growth factor receptor signaling pathway	IDA	biological process
GO:0048146	positive regulation of fibroblast proliferation	IDA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0007417	central nervous system development	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa04010	MAPK signaling pathway
hsa04014	Ras signaling pathway
hsa04810	Regulation of actin cytoskeleton
hsa04015	Rap1 signaling pathway
hsa04510	Focal adhesion
hsa04072	Phospholipase D signaling pathway
hsa05231	Choline metabolism in cancer
hsa04540	Gap junction
hsa05215	Prostate cancer
hsa01521	EGFR tyrosine kinase inhibitor resistance
hsa05218	Melanoma

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospadias	MIK: 25108383

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25108383	Hypospadias	rs13124827		1,006 boys who underwent surgery for hypospadias and 5,486 individuals (2,390 males and 3,096 females)	Male infertility	GWAS