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    PDGFC platelet derived growth factor C [ Homo sapiens (human) ]

    Gene ID: 56034, updated on 5-Nov-2024

    Summary

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    Official Symbol
    PDGFCprovided by HGNC
    Official Full Name
    platelet derived growth factor Cprovided by HGNC
    Primary source
    HGNC:HGNC:8801
    See related
    Ensembl:ENSG00000145431 MIM:608452; AllianceGenome:HGNC:8801
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCDGF; FALLOTEIN
    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 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
    Expression
    Ubiquitous expression in endometrium (RPKM 16.6), prostate (RPKM 13.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PDGFC in Genome Data Viewer
    Location:
    4q32.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (156760454..156971799, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (160106105..160317463, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (157681606..157892951, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377508 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_74995 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75023 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:157426362-157427068 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75051 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:157519367-157520566 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:157521211-157521946 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:157526591-157527116 Neighboring gene NANOG hESC enhancer GRCh37_chr4:157555350-157555851 Neighboring gene long intergenic non-protein coding RNA 2272 Neighboring gene NANOG hESC enhancer GRCh37_chr4:157692390-157692891 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:157718592-157719092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:157892738-157893238 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:157919659-157920439 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:157920440-157921219 Neighboring gene ribonuclease P RNA component H1, 3 pseudogene Neighboring gene Sharpr-MPRA regulatory region 1911 Neighboring gene glycine receptor beta

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Structural requirements for activation of latent platelet-derived growth factor CC by tissue plasminogen activator. Fredriksson L, et al. J Biol Chem, 2005 Jul 22. PMID 15911618
    2. Platelet-derived growth factor (PDGF)-C, a PDGF family member with a vascular endothelial growth factor-like structure. Reigstad LJ, et al. J Biol Chem, 2003 May 9. PMID 12598536
    3. PDGF-C expression in the developing and normal adult human kidney and in glomerular diseases. Eitner F, et al. J Am Soc Nephrol, 2003 May. PMID 12707385
    4. Presymptomatic activation of the PDGF-CC pathway accelerates onset of ALS neurodegeneration. Lewandowski SA, et al. Acta Neuropathol, 2016 Mar. PMID 26687981, Free PMC Article
    5. Maternal transmission effect of a PDGF-C SNP on nonsyndromic cleft lip with or without palate from a Chinese population. Wu D, et al. PLoS One, 2012. PMID 23029525, Free PMC Article

    See all (79) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Platelet-Derived Growth Factor C Facilitates Malignant Behavior of Pancreatic Ductal Adenocarcinoma by Regulating SREBP1 Mediated Lipid Metabolism.
      Title: Platelet-Derived Growth Factor C Facilitates Malignant Behavior of Pancreatic Ductal Adenocarcinoma by Regulating SREBP1 Mediated Lipid Metabolism.
    2. PDGF-C promotes cell proliferation partially via downregulating BOP1.
      Title: PDGF-C promotes cell proliferation partially via downregulating BOP1.
    3. Impact of Acute High Glucose on Mitochondrial Function in a Model of Endothelial Cells: Role of PDGF-C.
      Title: Impact of Acute High Glucose on Mitochondrial Function in a Model of Endothelial Cells: Role of PDGF-C.
    4. RNA N6-methyladenosine demethylase FTO promotes pancreatic cancer progression by inducing the autocrine activity of PDGFC in an m(6)A-YTHDF2-dependent manner.
      Title: RNA N6-methyladenosine demethylase FTO promotes pancreatic cancer progression by inducing the autocrine activity of PDGFC in an m(6)A-YTHDF2-dependent manner.
    5. Expression and function of PDGF-C in development and stem cells.
      Title: Expression and function of PDGF-C in development and stem cells.
    6. Cancer-associated fibroblast secretion of PDGFC promotes gastrointestinal stromal tumor growth and metastasis.
      Title: Cancer-associated fibroblast secretion of PDGFC promotes gastrointestinal stromal tumor growth and metastasis.
    7. Platelet-Derived Growth Factor C in Alcoholics.
      Title: Platelet-Derived Growth Factor C in Alcoholics.
    8. The authors found PDGF-C to be highly expressed in breast carcinoma cell lines. I
      Title: An oncogenic activity of PDGF-C and its splice variant in human breast cancer.
    9. High PDGFC expression is associated with glioblastoma.
      Title: MicroRNA-29a inhibits glioblastoma stem cells and tumor growth by regulating the PDGF pathway.
    10. PDGF-C and PDGF-D are relatively new members of the PDGF family and are potent angiogenic and survival factors. Recent studies have demonstrated their important roles in different types of eye diseases. [review]
      Title: PDGF-C and PDGF-D in ocular diseases.
    Submit: New GeneRIF Correction See all GeneRIFs (48)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    EBI GWAS Catalog
    First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children.
    EBI GWAS Catalog
    Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Treatment of human neuroblastoma cells or rat primary neurons with HIV-1 Tat downregulates PDGF-C expression PubMed
    tat PDGF-C mediated neuroprotection against HIV-1 Tat results from inactivation of the downstream mediator GSK3 beta by its phosphorylation at Ser-9 in human neuroblastoma cells PubMed
    tat PI3K/Akt, TRPC, and GSK3 beta signaling pathways are all involved in PDGF-C mediated neuroprotection against HIV-1 Tat in human neuroblastoma cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables platelet-derived growth factor receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables platelet-derived growth factor receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in animal organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in bone development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to amino acid stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in central nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in digestive tract development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in platelet-derived growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in platelet-derived growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in positive regulation of fibroblast proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    platelet-derived growth factor C
    Names
    PDGF-C
    VEGF-E
    secretory growth factor-like protein
    spinal cord-derived growth factor

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_016205.3 → NP_057289.1  platelet-derived growth factor C precursor

      See identical proteins and their annotated locations for NP_057289.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the functional protein.
      Source sequence(s)
      AC092608, AC093325, AF091434, AI446155
      Consensus CDS
      CCDS3795.1
      UniProtKB/Swiss-Prot
      B4DU34, B9EGR8, Q4W5M9, Q9NRA1, Q9UL22
      UniProtKB/TrEMBL
      B2R9K6
      Related
      ENSP00000422464.1, ENST00000502773.6
      Conserved Domains (2) summary
      cd00041
      Location:49 → 162
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00135
      Location:248 → 340
      PDGF; Platelet-derived and vascular endothelial growth factors (PDGF, VEGF) family domain; PDGF is a potent activator for cells of mesenchymal origin; PDGF-A and PDGF-B form AA and BB homodimers and an AB heterodimer; VEGF is a potent mitogen in embryonic and ...

    RNA

    1. NR_036641.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as PDGF-Cb) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC092608, AC093325, AF091434, AI446155, AM922296

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      156760454..156971799 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008455.2 → XP_016863944.1  platelet-derived growth factor C isoform X1

      UniProtKB/TrEMBL
      B2R9K6

    2. XM_047415970.1 → XP_047271926.1  platelet-derived growth factor C isoform X3

    3. XM_047415972.1 → XP_047271928.1  platelet-derived growth factor C isoform X3

    4. XM_047415969.1 → XP_047271925.1  platelet-derived growth factor C isoform X2

    5. XM_047415971.1 → XP_047271927.1  platelet-derived growth factor C isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      160106105..160317463 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350511.1 → XP_054206486.1  platelet-derived growth factor C isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRA1.2 GenPept UniProtKB/Swiss-Prot:Q9NRA1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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