Human Gene PDGFC (ENST00000502773.6_7) from GENCODE V47lift37
  Description: platelet derived growth factor C, transcript variant 1 (from RefSeq NM_016205.3)
Gencode Transcript: ENST00000502773.6_7
Gencode Gene: ENSG00000145431.11_10
Transcript (Including UTRs)
   Position: hg19 chr4:157,681,606-157,892,951 Size: 211,346 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr4:157,684,242-157,892,055 Size: 207,814 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:157,681,606-157,892,951)mRNA (may differ from genome)Protein (345 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PDGFC_HUMAN
DESCRIPTION: RecName: Full=Platelet-derived growth factor C; Short=PDGF-C; AltName: Full=Fallotein; AltName: Full=Spinal cord-derived growth factor; Short=SCDGF; AltName: Full=VEGF-E; Contains: RecName: Full=Platelet-derived growth factor C, latent form; Short=PDGFC latent form; Contains: RecName: Full=Platelet-derived growth factor C, receptor-binding form; Short=PDGFC receptor-binding form; Flags: Precursor;
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 formation during embryonic development, especially for normal development of the craniofacial skeleton and for normal development of the palate. Required for normal skin morphogenesis during embryonic development. Plays an important role in wound healing, where it appears to be involved in three stages: inflammation, proliferation and remodeling. Plays an important role in angiogenesis and blood vessel development. Involved in fibrotic processes, in which transformation of interstitial fibroblasts into myofibroblasts plus collagen deposition occurs. The CUB domain has mitogenic activity in coronary artery smooth muscle cells, suggesting a role beyond the maintenance of the latency of the PDGF domain. In the nucleus, PDGFC seems to have additional function.
SUBUNIT: Homodimer; disulfide-linked. Interacts with PDGFRA homodimers, and with heterodimers formed by PDGFRA and PDGFRB. Interacts (via CUB domain) with PLAT (via kringle domain).
SUBCELLULAR LOCATION: Cytoplasm. Secreted. Nucleus. Cytoplasmic granule. Note=Sumoylated form is predominant in the nucleus. Stored in alpha granules in platelets. Membrane associated when bound to receptors.
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 kidney, constitutively expressed in parietal epithelial cells of Bowman's capsule, tubular epithelial cells and in arterial endothelial cells (at protein level). Highly expressed in the platelets, prostate, testis and uterus. Higher expression is observed in uterine leiomyomata. Weaker expression in the spleen, thymus, heart, pancreas, liver, ovary cells and small intestine, and negligible expression in the colon and peripheral blood leukocytes.
DEVELOPMENTAL STAGE: In the fetal kidney, detected in the developing mesangium, ureteric bud epithelium and the undifferentiated mesenchyme (at protein level).
INDUCTION: Up-regulated by EWS-FLI1 chimeric transcription factor in tumor derived cells. Up-regulated in podocytes and interstitial cells after injury/activation of these cells. FGF2 activates PDGFC transcription via EGR1. Up-regulated by TGFB1 in concert with FGF2.
PTM: Proteolytic removal of the N-terminal CUB domain releasing the core domain is necessary for unmasking the receptor-binding epitopes of the core domain. Cleavage after basic residues in the hinge region (region connecting the CUB and growth factor domains) gives rise to the receptor-binding form. Cleaved by PLAT and PLG.
PTM: Sumoylated with SUMO1.
PTM: N-glycosylated.
MISCELLANEOUS: A lower molecular weight form (around 43 kDa) is present in patients with papillary thyroid carcinoma.
SIMILARITY: Belongs to the PDGF/VEGF growth factor family.
SIMILARITY: Contains 1 CUB domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PDGFC
Diseases sorted by gene-association score: osteosclerotic myeloma (7), medulloblastoma (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.84 RPKM in Artery - Aorta
Total median expression: 196.98 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -420.40896-0.469 Picture PostScript Text
3' UTR -631.302636-0.239 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000859 - CUB
IPR000072 - PD_growth_factor

Pfam Domains:
PF00341 - PDGF/VEGF domain
PF00431 - CUB domain

SCOP Domains:
49854 - Spermadhesin, CUB domain
57501 - Cystine-knot cytokines

ModBase Predicted Comparative 3D Structure on Q9NRA1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005161 platelet-derived growth factor receptor binding
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0042803 protein homodimerization activity

Biological Process:
GO:0007171 activation of transmembrane receptor protein tyrosine kinase activity
GO:0007275 multicellular organism development
GO:0007417 central nervous system development
GO:0007596 blood coagulation
GO:0008284 positive regulation of cell proliferation
GO:0009790 embryo development
GO:0009887 animal organ morphogenesis
GO:0010469 regulation of receptor activity
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0030335 positive regulation of cell migration
GO:0031954 positive regulation of protein autophosphorylation
GO:0043406 positive regulation of MAP kinase activity
GO:0048008 platelet-derived growth factor receptor signaling pathway
GO:0048146 positive regulation of fibroblast proliferation
GO:0048565 digestive tract development
GO:0050730 regulation of peptidyl-tyrosine phosphorylation
GO:0051781 positive regulation of cell division
GO:0060348 bone development
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0071230 cellular response to amino acid stimulus

Cellular Component:
GO:0000139 Golgi membrane
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005788 endoplasmic reticulum lumen
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  DI479787 - KR 1020140108718-A/1: BIOMARKERS FOR KAWASAKI DISEASE.
DI479788 - KR 1020140108718-A/3: BIOMARKERS FOR KAWASAKI DISEASE.
JB758981 - Sequence 1 from Patent WO2013101758.
JB758983 - Sequence 3 from Patent WO2013101758.
LF402598 - JP 2015505245-A/1: BIOMARKERS FOR KAWASAKI DISEASE.
LF402599 - JP 2015505245-A/2: BIOMARKERS FOR KAWASAKI DISEASE.
AY358493 - Homo sapiens clone DNA29101 fallotein (VEGF-E) (UNQ174) mRNA, complete cds.
AF091434 - Homo sapiens secretory growth factor-like protein fallotein mRNA, complete cds.
BC065490 - Homo sapiens cDNA clone IMAGE:6537664, **** WARNING: chimeric clone ****.
BC051876 - Homo sapiens platelet derived growth factor C, mRNA (cDNA clone IMAGE:6527736), with apparent retained intron.
BC041783 - Homo sapiens platelet derived growth factor C, mRNA (cDNA clone IMAGE:4614150), containing frame-shift errors.
AF244813 - Homo sapiens platelet-derived growth factor C mRNA, complete cds.
BC094746 - Homo sapiens cDNA clone IMAGE:5315195.
AF260738 - Homo sapiens platelet-derived growth factor C (PDGFC) mRNA, complete cds.
AB033831 - Homo sapiens hSCDGF mRNA for spinal cord-derived growth factor, complete cds.
AK300480 - Homo sapiens cDNA FLJ50219 complete cds, highly similar to Homo sapiens platelet derived growth factor C (PDGFC), mRNA.
AM922296 - Homo sapiens mRNA for PDGF-C variant PDGF-Cb (PDGFC gene), isolated from fetal brain.
BC136662 - Homo sapiens platelet derived growth factor C, mRNA (cDNA clone MGC:168275 IMAGE:9020652), complete cds.
BC144348 - Homo sapiens cDNA clone IMAGE:9052868, with apparent retained intron.
AK313817 - Homo sapiens cDNA, FLJ94436, highly similar to Homo sapiens platelet derived growth factor C (PDGFC), mRNA.
AB590688 - Synthetic construct DNA, clone: pFN21AE1827, Homo sapiens PDGFC gene for platelet derived growth factor C, without stop codon, in Flexi system.
JD349986 - Sequence 331010 from Patent EP1572962.
JD101674 - Sequence 82698 from Patent EP1572962.
JD315288 - Sequence 296312 from Patent EP1572962.
JD332768 - Sequence 313792 from Patent EP1572962.
JD248910 - Sequence 229934 from Patent EP1572962.
JD565206 - Sequence 546230 from Patent EP1572962.
JD236503 - Sequence 217527 from Patent EP1572962.
JD198866 - Sequence 179890 from Patent EP1572962.
AK304638 - Homo sapiens cDNA FLJ59151 complete cds, highly similar to Homo sapiens platelet derived growth factor C (PDGFC), mRNA.
JD286969 - Sequence 267993 from Patent EP1572962.
JD409719 - Sequence 390743 from Patent EP1572962.
JD261843 - Sequence 242867 from Patent EP1572962.
JD154104 - Sequence 135128 from Patent EP1572962.
JD338410 - Sequence 319434 from Patent EP1572962.
JD431600 - Sequence 412624 from Patent EP1572962.
JD371717 - Sequence 352741 from Patent EP1572962.
JD187604 - Sequence 168628 from Patent EP1572962.
JD154103 - Sequence 135127 from Patent EP1572962.
JD383135 - Sequence 364159 from Patent EP1572962.
JD181961 - Sequence 162985 from Patent EP1572962.
JD451088 - Sequence 432112 from Patent EP1572962.
JD424415 - Sequence 405439 from Patent EP1572962.
JD253682 - Sequence 234706 from Patent EP1572962.
JD103882 - Sequence 84906 from Patent EP1572962.
JD521969 - Sequence 502993 from Patent EP1572962.
JD115859 - Sequence 96883 from Patent EP1572962.
JD121705 - Sequence 102729 from Patent EP1572962.
JD385109 - Sequence 366133 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NRA1 (Reactome details) participates in the following event(s):

R-HSA-382061 Extracellular processing of novel PDGFs
R-HSA-382053 Translocation of PDGF from ER to Golgi
R-HSA-186797 Signaling by PDGF
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B4DU34, B9EGR8, ENST00000502773.1, ENST00000502773.2, ENST00000502773.3, ENST00000502773.4, ENST00000502773.5, NM_016205, PDGFC_HUMAN, Q4W5M9, Q9NRA1, Q9UL22, SCDGF, uc322wih.1, uc322wih.2, UNQ174/PRO200
UCSC ID: ENST00000502773.6_7
RefSeq Accession: NM_016205.3
Protein: Q9NRA1 (aka PDGFC_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.