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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PDGFC Gene

protein-coding   GIFtS: 65
GCID: GC04M157682

Platelet Derived Growth Factor C

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Platelet Derived Growth Factor C1 2     FALLOTEIN2
Spinal Cord-Derived Growth Factor2 3     Platelet-Derived Growth Factor C2
PDGF-C2 3     Secretory Growth Factor-Like Protein2
SCDGF2 3     Fallotein3
VEGF-E2 3     

External Ids:    HGNC: 88011   Entrez Gene: 560342   Ensembl: ENSG000001454317   OMIM: 6084525   UniProtKB: Q9NRA13   
ORGUL members:         
NONCODE14:n410166      

Export aliases for PDGFC gene to outside databases

Previous GC identifers: GC04M158562 GC04M158113 GC04M158260 GC04M158040 GC04M157902 GC04M153433


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PDGFC Gene:
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)

GeneCards Summary for PDGFC Gene: 
PDGFC (platelet derived growth factor C) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with PDGFC include contagious pustular dermatitis, and ewing's family of tumors, and among its related super-pathways are Focal Adhesion and Rac1 Pathway. GO annotations related to this gene include cell surface binding and protein homodimerization activity. An important paralog of this gene is PDGFD.

UniProtKB/Swiss-Prot: PDGFC_HUMAN, Q9NRA1
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

summary for PDGFC Gene:
Platelet-derived growth factor receptors (PDGFRs) are catalytic receptors that have intracellular tyrosine
kinase activity. They have roles in the regulation of many biological processes including embryonic
development, angiogenesis, cell proliferation and differentiation, and contribute to the pathophysiology of
some diseases, including cancer. There are two isoforms of the PDGFR receptor; PDGFRalpha and PDGFRbeta,
which can form homo- or heterodimers. The endogenous PDGFR ligands are PDGF-A, -B, -C and -D, which induce
receptor dimerization and transphosphorylation at specific tyrosine residues upon binding. This activates
the intracellular kinase activity, initiating intracellular signaling through the MAPK, PI 3-K and PKCgamma
pathways.

Gene Wiki entry for PDGFC Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.2  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PDGFC gene promoter:
         AhR   C/EBPbeta   Tal-1beta   LCR-F1   C/EBPalpha   Arnt   E47   MEF-2A   COMP1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDGFC promoter sequence
   Search SABiosciences Chromatin IP Primers for PDGFC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PDGFC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q32   Ensembl cytogenetic band:  4q32.1   HGNC cytogenetic band: 4q32

PDGFC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDGFC gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M157682:  view genomic region     (about GC identifiers)

Start:
157,681,606 bp from pter      End:
157,892,546 bp from pter
Size:
210,941 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PDGFC_HUMAN, Q9NRA1 (See protein sequence)
Recommended Name: Platelet-derived growth factor C precursor  
Size: 345 amino acids; 39029 Da
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
Developmental stage: In the fetal kidney, detected in the developing mesangium, ureteric bud epithelium and the
undifferentiated mesenchyme (at protein level)
Miscellaneous: A lower molecular weight form (around 43 kDa) is present in patients with papillary thyroid
carcinoma
Secondary accessions: B4DU34 B9EGR8 Q4W5M9 Q9UL22
Alternative splicing: 4 isoforms:  Q9NRA1-1   Q9NRA1-2   Q9NRA1-3   Q9NRA1-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PDGFC: NX_Q9NRA1

Explore proteomics data for PDGFC at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • UniProtKB: Sumoylated with SUMO1
  • UniProtKB: N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NRA1

  • PDGFC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PDGFC Protein Expression
    REFSEQ proteins: NP_057289.1  
    ENSEMBL proteins: 
     ENSP00000422464   ENSP00000274071   ENSP00000424600   ENSP00000410048   ENSP00000442943  
     ENSP00000439728  
    Reactome Protein details: Q9NRA1
    Human Recombinant Protein Products for PDGFC: 
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    OriGene Custom MassSpec 
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    GenScript Purified and Recombinant Proteins for PDGFC
    Novus Biologicals PDGFC Proteins
    Novus Biologicals PDGFC Lysate
    Sino Biological Recombinant Protein for PDGFC
    Sino Biological Cell Lysate for PDGFC 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PDGFC 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA10806482
    GO:0005634nucleus IEA--
    GO:0005788endoplasmic reticulum lumen TAS--

    PDGFC for ontologies           About GeneDecksing



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    Assay Products for PDGFC: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR000859 CUB_dom
     IPR000072 PD_growth_factor

    Graphical View of Domain Structure for InterPro Entry Q9NRA1

    ProtoNet protein and cluster: Q9NRA1

    2 Blocks protein domains:
    IPB000072 Platelet-derived growth factor (PDGF)
    IPB000859 CUB domain


    UniProtKB/Swiss-Prot: PDGFC_HUMAN, Q9NRA1
    Similarity: Belongs to the PDGF/VEGF growth factor family
    Similarity: Contains 1 CUB domain


    PDGFC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PDGFC_HUMAN, Q9NRA1
    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
    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

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005161platelet-derived growth factor receptor binding IPI10806482
    GO:0008083growth factor activity IEA--
    GO:0042803protein homodimerization activity IPI10806482
         
    PDGFC for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PDGFC:
     Increased circadian period len 

         15/16 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Pdgfc) (see all 16):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  growth/size 
     homeostasis/metabolism  integument  mortality/aging  muscle  nervous system 
     normal  pigmentation  renal/urinary system  respiratory system  skeleton 

    PDGFC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pdgfctm1.1Hdin for PDGFC

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PDGFC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PDGFC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PDGFC 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PDGFC 

    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate PDGFC (see all 11):
    hsa-miR-3163 hsa-miR-29a hsa-miR-29c hsa-miR-9 hsa-miR-629* hsa-miR-186 hsa-miR-3121-3p hsa-miR-4326
    SwitchGear 3'UTR luciferase reporter plasmidPDGFC 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDGFC


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PDGFC About   (see all 27)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Focal Adhesion
    Focal Adhesion0.64
    Focal adhesion0.64
    2Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    3GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    4Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    5Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for PDGFC
        Development PDGF signaling via MAPK cascades
    Cytoskeleton remodeling Role of PDGFs in cell migration

    5/59 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PDGFC (see all 59)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer

    2 GeneGo (Thomson Reuters) Pathways for PDGFC
        Cytoskeleton remodeling Role of PDGFs in cell migration
    Development PDGF signaling via MAPK cascades

    1 BioSystems Pathway for PDGFC
        Focal Adhesion


    2        Reactome Pathways for PDGFC
        Signal Transduction
    Signaling by PDGF


    5/7         Kegg Pathways  (Kegg details for PDGFC) (see all 7):
        Cytokine-cytokine receptor interaction
    PI3K-Akt signaling pathway
    Focal adhesion
    Gap junction
    Regulation of actin cytoskeleton


    PDGFC for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PDGFC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/13 Interacting proteins for PDGFC (Q9NRA13 ENSP000002740714) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDGFRAP162343, ENSP000002572904I2D: score=2 STRING: ENSP00000257290
    SUMO1P631653, ENSP000003760764I2D: score=1 STRING: ENSP00000376076
    PDGFRBENSP000002617994STRING: ENSP00000261799
    EGFRENSP000002754934STRING: ENSP00000275493
    ERBB2ENSP000002695714STRING: ENSP00000269571
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007171activation of transmembrane receptor protein tyrosine kinase activity IEA--
    GO:0007417central nervous system development TAS10858496
    GO:0008284positive regulation of cell proliferation ----
    GO:0009887organ morphogenesis IEA--
    GO:0045740positive regulation of DNA replication IDA10806482

    PDGFC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PDGFC for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for PDGFC available from Tocris Bioscience    About this table
    CompoundAction CAS #
    SU 6668 PDGFR, VEGFR and FGFR inhibitor [252916-29-3]
    Sunitinib malate Potent VEGFR, PDGFRbeta and KIT inhibitor [341031-54-7]
    DMPQ dihydrochloride Potent, selective inhibitor of PDGFRbeta [137206-97-4]
    SU 16fPotent and selective PDGFRbeta inhibitor[251356-45-3]

    1 Novoseek inferred chemical compound relationship for PDGFC gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vegf 43.8 13 19352490 (3), 11162582 (2), 19111878 (2), 10858496 (1) (see all 6)

    Search CenterWatch for drugs/clinical trials and news about PDGFC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PDGFC gene: 
    NM_016205.2  

    Unigene Cluster for PDGFC:

    Platelet derived growth factor C
    Hs.570855  [show with all ESTs]
    Unigene Representative Sequence: NR_036641
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000502773(uc011cir.2 uc003ipi.2 uc003iph.2 uc011cis.2)
    ENST00000274071 ENST00000504672 ENST00000506880 ENST00000422544 ENST00000510982
    ENST00000511985 ENST00000512711 ENST00000513664 ENST00000541126 ENST00000542208

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    Additional mRNA sequence: 

    AB033831.1 AF091434.1 AF260738.1 AK300480.1 AK304638.1 AK313817.1 AM922296.1 AY358493.1 
    BC041783.1 BC051876.1 BC094746.1 BC136662.1 BC144348.1 NR_036641.1 

    5 DOTS entries:

    DT.100013272  DT.101986315  DT.310586  DT.92432791  DT.121245933 

    24/112 AceView cDNA sequences (see all 112):

    BU632632 BM787834 CA426588 BI868765 BX101061 CA427299 AA039965 CA420785 
    AA631149 AA358262 BP336004 AW027235 AF091434 CA335444 BQ068266 AL042106 
    AI193332 AU280428 BQ004392 AI685122 BC051876 AA039880 BQ019598 CA397892 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for PDGFC (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b
    SP1:              -     -           -                 -     -     -                 -                           
    SP2:              -                 -                 -     -     -                                             
    SP3:                                                                                                            
    SP4:                                                                                -                           
    SP5:                                -                                                                           


    ECgene alternative splicing isoforms for PDGFC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PDGFC expression in normal human tissues (normalized intensities)      PDGFC embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATATTTTTA
    PDGFC Expression
    About this image


    PDGFC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Interzone Cells Stylopod Synovial Joint
             Zeugopod
             limb/hindlimb/leg   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Interzone Cells Stylopod Synovial Joint
             Knee Normal Human Articular chondrocytes (knNHAC)   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             colon ; peripheral nerve/ganglion   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             visceral organ/lung/right lung   

    See PDGFC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PDGFC

    SOURCE GeneReport for Unigene cluster: Hs.570855

    UniProtKB/Swiss-Prot: PDGFC_HUMAN, Q9NRA1
    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including PDGFC: 
              Growth Factors in human mouse rat
              VEGF Signaling in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for PDGFC gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdgfc1 , 5 platelet-derived growth factor, C polypeptide1, 5 84.35(n)1
    86.96(a)1
      3 (35.73 cM)5
    546351  NM_019971.21  NP_064355.11 
     810364165 
    chicken
    (Gallus gallus)
    Aves PDGFC1 platelet derived growth factor C 79.9(n)
    84.06(a)
      395469  NM_204721.1  NP_990052.1 
    lizard
    (Anolis carolinensis)
    Reptilia PDGFC6
    Uncharacterized protein
    83(a)
    1 ↔ 1
    5(128998063-129128178)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5605641 platelet-derived growth factor C-like 63.71(n)
    62.72(a)
      560564  XM_683962.4  XP_689054.2 


    ENSEMBL Gene Tree for PDGFC (if available)
    TreeFam Gene Tree for PDGFC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PDGFC gene
    PDGFD2  
    1 SIMAP similar gene for PDGFC using alignment to 4 protein entries:     PDGFC_HUMAN (see all proteins):
    PDGFD

    PDGFC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3930 SNPs in PDGFC are shown (see all 3930)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1131100761,2
    C--153465556(+) TGTGC-/ATATAT
            
    ATATA
    2 -- int11Minor allele frequency- ATATAT:0.00CSA 2
    rs1389631331,2
    --157682345(+) ATCTAC/TGTCTG 2 -- ds50010--------
    rs759075721,2
    F--157682453(+) AGACAT/AGAGTG 2 -- ds50011Minor allele frequency- A:0.06WA 118
    rs284368161,2
    C,F--157682471(+) GCAAGT/ATTTTT 2 -- ds50012Minor allele frequency- A:0.21CSA WA 119
    rs1146163461,2
    F--157682493(+) ACTACC/TATACC 2 -- ds50011Minor allele frequency- T:0.03WA 118
    rs65362051,2
    C,F,A,H--157682577(+) TAAGAC/TCAGTA 2 -- ds50015Minor allele frequency- T:0.01NS EA NA 420
    rs111000831,2
    C,F,A,H--157682598(+) AACCAC/TTGCTC 2 -- ds50019Minor allele frequency- T:0.50WA NA CSA EA 370
    rs1893398021,2
    --157682617(+) TGGAAA/GCAAGA 2 -- ds50010--------
    rs1474173321,2
    C--157682697(+) AAATCA/GTAACA 2 -- ds50010--------
    rs1807035241,2
    --157682726(+) TTTCTC/TAGAGT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for PDGFC (157681606 - 157892546 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PDGFC:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2669335CNV Deletion23128226
    esv2677099CNV Deletion23128226
    esv2657401CNV Deletion23128226
    esv2591391CNV Deletion19546169
    nsv830122CNV Gain17160897


    Human Gene Mutation Database (HGMD): PDGFC
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PDGFC
    DNA2.0 Custom Variant and Variant Library Synthesis for PDGFC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608452    OMIM disorders: --

    20/30 diseases for PDGFC (see all 30):    About MalaCards
    contagious pustular dermatitis    ewing's family of tumors    myocarditis    uterine fibroid
    proliferative vitreoretinopathy    angiomyolipoma    papillary thyroid carcinoma    cleft lip
    medulloblastoma    atherosclerosis    osteoarthritis    dermatitis
    periodontitis    thyroiditis    glioblastoma    sarcoma
    rheumatoid arthritis    arthritis    retinitis    endotheliitis


    PDGFC for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for PDGFC gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myocarditis chronic 68.4 2 15757957 (1), 15757958 (1)
    atherosclerosis 20.2 1 18573494 (1)
    tumors 9.3 18 19352490 (3), 19111878 (3), 11854040 (2), 11342471 (1) (see all 10)
    renal disease 5.82 1 16279938 (1)

    Genetic Association Database (GAD): PDGFC
    Human Genome Epidemiology (HuGE) Navigator: PDGFC (9 documents)

    Export disorders for PDGFC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PDGFC gene, integrated from 9 sources (see all 83):
    (articles sorted by number of sources associating them with PDGFC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene derived from developing spinal cords, SCDGF, is a unique member of the PDGF/VEGF family. (PubMed id 10858496)1, 2, 3, 9 Hamada T.... Miyata Y. (2000)
    2. PDGF-C expression in the developing and normal adult human kidney and in glomerular diseases. (PubMed id 12707385)1, 2, 9 Eitner F....Floege J. (2003)
    3. Nuclear localisation of endogenous SUMO-1-modified PDGF-C in human thyroid tissue and cell lines. (PubMed id 16443219)1, 2, 9 Reigstad L.J.... Lillehaug J.R. (2006)
    4. Chromosomal location, exon structure, and vascular expression patterns of the human PDGFC and PDGFC genes. (PubMed id 11342471)1, 2, 9 Uutela M.... Alitalo K. (2001)
    5. The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P. (PubMed id 19092777)1, 4, 9 Choi S.J....Hart T.C. (2008)
    6. Structural requirements for activation of latent platelet-derived growth factor CC by tissue plasminogen activator. (PubMed id 15911618)1, 2, 9 Fredriksson L.... Eriksson U. (2005)
    7. PDGF-C is an EWS/FLI induced transforming growth factor in Ewing family tumors. (PubMed id 11313995)1, 2, 9 Zwerner J.P. and May W.A. (2001)
    8. Platelet-derived growth factor C induces liver fibrosis, steatosis, and hepatocellular carcinoma. (PubMed id 15728360)1, 2, 9 Campbell J.S....Fausto N. (2005)
    9. Identification of a novel platelet-derived growth factor-like gene, fallotein, in the human reproductive tract. (PubMed id 11004490)1, 2, 9 Tsai Y.J.... Chen Y.H. (2000)
    10. Increased expression of platelet-derived growth factor C messenger ribonucleic acid in uterine leiomyomata. (PubMed id 17482170)1, 2, 9 Hwu Y.M.... Lin S.Y. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 56034 HGNC: 8801 AceView: PDGFC Ensembl:ENSG00000145431 euGenes: HUgn56034
    ECgene: PDGFC Kegg: 56034 H-InvDB: PDGFC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PDGFC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PDGFC Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PDGFC gene:
    Search GeneIP for patents involving PDGFC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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