Gene: Pdgfc

Basic information

Tag Content
Uniprot ID Q8CI19; Q99JM4; Q9JHV8; Q9QY71;
Entrez ID 54635
Genbank protein ID AAH37696.1; BAC28455.1; BAC31358.1; AAH06027.1; AAK58566.1; BAC35216.1; AAF22516.1; AAF91483.1;
Genbank nucleotide ID NM_019971.2
Ensembl protein ID ENSMUSP00000029652
Ensembl nucleotide ID ENSMUSG00000028019
Gene name Platelet-derived growth factor C
Gene symbol Pdgfc
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E12.5, E13.5
Data sources Manually collected
Reference 17941048
Functional description 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.
Sequence
MLLLGLLLLT SALAGQRTGT RAESNLSSKL QLSSDKEQNG VQDPRHERVV TISGNGSIHS 60
PKFPHTYPRN MVLVWRLVAV DENVRIQLTF DERFGLEDPE DDICKYDFVE VEEPSDGSVL 120
GRWCGSGTVP GKQTSKGNHI RIRFVSDEYF PSEPGFCIHY SIIMPQVTET TSPSVLPPSS 180
LSLDLLNNAV TAFSTLEELI RYLEPDRWQV DLDSLYKPTW QLLGKAFLYG KKSKVVNLNL 240
LKEEVKLYSC TPRNFSVSIR EELKRTDTIF WPGCLLVKRC GGNCACCLHN CNECQCVPRK 300
VTKKYHEVLQ LRPKTGVKGL HKSLTDVALE HHEECDCVCR GNAGG 345

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologPDGFC102168934A0A452ET29Capra hircusPredictionMore>>
1:1 orthologPDGFC100062015A0A3Q2HV05Equus caballusPredictionMore>>
1:1 orthologPDGFC56034Q9NRA1Homo sapiensPublicationMore>>
1:1 orthologPdgfc54635Q8CI19CPOE12.5, E13.5Mus musculusPublicationMore>>
1:1 orthologPDGFCH2QQC3Pan troglodytesPredictionMore>>
1:1 orthologA0A481CL63Sus scrofaPredictionMore>>
1:1 orthologPDGFC100350272G1TDA1Oryctolagus cuniculusPredictionMore>>
1:1 orthologPdgfc79429Q9EQX6Rattus norvegicusPredictionMore>>
1:1 orthologpdgfc560564E7FB33Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
PDGFCc.93G>T; p.Q31HWES and Sanger sequencing26449438
PDGFCrs17035464Genotyping; TDT23029525

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005161 platelet-derived growth factor receptor bindingISO
GO:0005161 platelet-derived growth factor receptor bindingIDA
GO:0005161 platelet-derived growth factor receptor bindingIBA
GO:0008083 growth factor activityIEA
GO:0042803 protein homodimerization activityISO
GO:0070851 growth factor receptor bindingIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0007171 activation of transmembrane receptor protein tyrosine kinase activityIDA
GO:0008284 positive regulation of cell population proliferationISO
GO:0008284 positive regulation of cell population proliferationIDA
GO:0008284 positive regulation of cell population proliferationIBA
GO:0009887 animal organ morphogenesisIGI
GO:0009887 animal organ morphogenesisIMP
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signalingIBA
GO:0030335 positive regulation of cell migrationIBA
GO:0031954 positive regulation of protein autophosphorylationIBA
GO:0043406 positive regulation of MAP kinase activityIBA
GO:0048008 platelet-derived growth factor receptor signaling pathwayISO
GO:0048008 platelet-derived growth factor receptor signaling pathwayIDA
GO:0048008 platelet-derived growth factor receptor signaling pathwayIBA
GO:0048146 positive regulation of fibroblast proliferationISO
GO:0048565 digestive tract developmentIGI
GO:0048568 embryonic organ developmentIEA
GO:0050730 regulation of peptidyl-tyrosine phosphorylationIDA
GO:0051781 positive regulation of cell divisionIEA
GO:0060348 bone developmentIGI
GO:0070374 positive regulation of ERK1 and ERK2 cascadeIBA
GO:0071230 cellular response to amino acid stimulusIDA
GO:0120162 positive regulation of cold-induced thermogenesisIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionIDA
GO:0005615 extracellular spaceISO
GO:0005615 extracellular spaceIBA
GO:0005634 nucleusIEA
GO:0005829 cytosolISO
GO:0005886 plasma membraneISO
GO:0009986 cell surfaceISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-186797 Signaling by PDGFIEA
R-MMU-9006934 Signaling by Receptor Tyrosine KinasesIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-1003 Cell membrane
KW-0165 Cleavage on pair of basic residues
KW-0963 Cytoplasm
KW-0217 Developmental protein
KW-1015 Disulfide bond
KW-0325 Glycoprotein
KW-0339 Growth factor
KW-0472 Membrane
KW-0497 Mitogen
KW-0539 Nucleus
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR000859 CUB_dom
IPR029034 Cystine-knot_cytokine
IPR029817 PDGF-C
IPR000072 PDGF/VEGF_dom
IPR035914 Sperma_CUB_dom_sf

PROSITE

PROSITE ID PROSITE Term
PS01180 CUB
PS50278 PDGF_2

Pfam

Pfam ID Pfam Term
PF00431 CUB
PF00341 PDGF

Protein-miRNA interaction