Gene Gene information from NCBI Gene database.
Entrez ID 56034
Gene name Platelet derived growth factor C
Gene symbol PDGFC
Synonyms (NCBI Gene)
FALLOTEINSCDGF
Chromosome 4
Chromosome location 4q32.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
96
miRTarBase ID miRNA Experiments Reference
MIRT019758 hsa-miR-375 Microarray 20215506
MIRT022407 hsa-miR-124-3p Microarray 18668037
MIRT025672 hsa-miR-7-5p Microarray 17612493
MIRT040332 hsa-miR-615-3p CLASH 23622248
MIRT438913 hsa-miR-29b-3p Luciferase reporter assayqRT-PCR 23354167
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
EGR1 Activation 15247255
SP1 Unknown 15247255
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005161 Function Platelet-derived growth factor receptor binding IBA
GO:0005161 Function Platelet-derived growth factor receptor binding IEA
GO:0005161 Function Platelet-derived growth factor receptor binding IPI 10806482
GO:0005515 Function Protein binding IPI 10806482, 11297552, 20534510, 35384245
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608452 8801 ENSG00000145431
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NRA1
Protein 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
Protein function Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen and chemoattractant for cells of mesenchymal origin. Required for normal skeleton
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00431 CUB 47 160 CUB domain Domain
PF00341 PDGF 250 337 PDGF/VEGF domain Domain
Tissue specificity 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
MSLFGLLLLTSALAGQRQGTQAESNLSSKFQFSSNKEQNGVQDPQHERIITVSTNGSIHS
PRFPHTYPRNTVLVWRLVAVEENVWIQLTFDERFGLEDPEDDICKYDFVEVEEPSDGTIL
GRWCGSGTVPGKQISKGNQIRIRFVSDEYFPSEPGFCIHY
NIVMPQFTEAVSPSVLPPSA
LPLDLLNNAITAFSTLEDLIRYLEPERWQLDLEDLYRPTWQLLGKAFVFGRKSRVVDLNL
LTEEVRLYSCTPRNFSVSIREELKRTDTIFWPGCLLVKRCGGNCACCLHNCNECQCVPSK
VTKKYHEVLQLRPKTGVRGLHKSLTDVALEHHEECDC
VCRGSTGG
Sequence length 345
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
Phospholipase D signaling pathway
PI3K-Akt signaling pathway
Focal adhesion
Gap junction
Regulation of actin cytoskeleton
Prostate cancer
Melanoma
Choline metabolism in cancer
  Signaling by PDGF
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Angiomyolipoma of kidney Angiomyolipoma Of Kidney BEFREE 18988705
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 29410092
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 29410092
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 37291580 Associate
★☆☆☆☆
Found in Text Mining only
Blood Platelet Disorders Platelet disorder Pubtator 26367242 Associate
★☆☆☆☆
Found in Text Mining only
Brain Ischemia Brain ischemia Pubtator 25849290 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22035541, 22939885, 24421315, 25383675, 26708018
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22939885 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25383675 Stimulate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26456994, 31542979 Associate
★☆☆☆☆
Found in Text Mining only