PDGFRA: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

PDGFRA

Aliases

CD140A, PDGFR-2, PDGFR2

Entrez Gene ID

5156

Gene Name

Platelet derived growth factor receptor alpha

Chromosomal Location

4q12

HGNC ID

HGNC:8803

Summary

This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]

RefSeq DNA

NG_009250.1

RefSeq mRNA

NM_006206.6, NM_001347827.2, NM_001347828.2, NM_001347829.2, NM_001347830.1, NM_006206.4

e!Ensembl

Gene	ENSG00000134853
Transcript	ENST00000508170, ENST00000257290, ENST00000512143, ENST00000509490, ENST00000503856, ENST00000504461, ENST00000512522
Protein	ENSP00000425648, ENSP00000257290, ENSP00000425626, ENSP00000424218, ENSP00000425902, ENSP00000426472, ENSP00000425232

Gene Ontology (GO)

Show/Hide all(49 )

GO ID	Ontology	Function	Evidence	Reference
GO:0001775	Biological process	Cell activation	TAS	10508235
GO:0002244	Biological process	Hematopoietic progenitor cell differentiation	IBA	21873635
GO:0007169	Biological process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0007204	Biological process	Positive regulation of cytosolic calcium ion concentration	IMP	2554309
GO:0008284	Biological process	Positive regulation of cell proliferation	IBA	21873635
GO:0008284	Biological process	Positive regulation of cell proliferation	IDA	10806482
GO:0008284	Biological process	Positive regulation of cell proliferation	IMP	2554309
GO:0010544	Biological process	Negative regulation of platelet activation	IDA	8188664
GO:0010863	Biological process	Positive regulation of phospholipase C activity	IMP	1646396
GO:0014068	Biological process	Positive regulation of phosphatidylinositol 3-kinase signaling	TAS	10734113
GO:0018108	Biological process	Peptidyl-tyrosine phosphorylation	IDA	1646396, 2536956, 8188664
GO:0030335	Biological process	Positive regulation of cell migration	IDA	17470632
GO:0030335	Biological process	Positive regulation of cell migration	IMP	1646396
GO:0034614	Biological process	Cellular response to reactive oxygen species	IDA	24190966
GO:0035790	Biological process	Platelet-derived growth factor receptor-alpha signaling pathway	IMP	2554309
GO:0038091	Biological process	Positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	IDA	17470632
GO:0043410	Biological process	Positive regulation of MAPK cascade	IBA	21873635
GO:0043552	Biological process	Positive regulation of phosphatidylinositol 3-kinase activity	IMP	1646396
GO:0046777	Biological process	Protein autophosphorylation	IDA	1646396, 2536956, 8188664
GO:0048008	Biological process	Platelet-derived growth factor receptor signaling pathway	IDA	2536956, 10806482
GO:0048015	Biological process	Phosphatidylinositol-mediated signaling	IMP	2554309
GO:0048146	Biological process	Positive regulation of fibroblast proliferation	IDA	10806482
GO:0050920	Biological process	Regulation of chemotaxis	IMP	2554309
GO:0060326	Biological process	Cell chemotaxis	IMP	1646396
GO:0070374	Biological process	Positive regulation of ERK1 and ERK2 cascade	IBA	21873635
GO:0070374	Biological process	Positive regulation of ERK1 and ERK2 cascade	IMP	10734113
GO:0070527	Biological process	Platelet aggregation	IMP	8188664
GO:2000249	Biological process	Regulation of actin cytoskeleton reorganization	TAS	10734113
GO:2000739	Biological process	Regulation of mesenchymal stem cell differentiation	IMP	21596750
GO:0005887	Cellular component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Cellular component	Integral component of plasma membrane	IDA	2536956
GO:0016020	Cellular component	Membrane	HDA	19946888
GO:0031226	Cellular component	Intrinsic component of plasma membrane	IDA	2554309
GO:0032991	Cellular component	Protein-containing complex	IDA	24190966
GO:0043235	Cellular component	Receptor complex	IBA	21873635
GO:0004672	Molecular function	Protein kinase activity	IDA	24190966
GO:0004714	Molecular function	Transmembrane receptor protein tyrosine kinase activity	IBA	21873635
GO:0004714	Molecular function	Transmembrane receptor protein tyrosine kinase activity	IDA	1646396
GO:0005018	Molecular function	Platelet-derived growth factor alpha-receptor activity	IBA	21873635
GO:0005018	Molecular function	Platelet-derived growth factor alpha-receptor activity	IDA	2536956, 8188664, 10806482
GO:0005018	Molecular function	Platelet-derived growth factor alpha-receptor activity	IMP	2554309
GO:0005021	Molecular function	Vascular endothelial growth factor-activated receptor activity	IDA	17470632
GO:0005161	Molecular function	Platelet-derived growth factor receptor binding	IPI	2542288
GO:0005515	Molecular function	Protein binding	IPI	7679113, 9546424, 10733900, 10806482, 17470632, 24658140, 25241761, 25416956
GO:0038085	Molecular function	Vascular endothelial growth factor binding	IPI	17470632
GO:0042803	Molecular function	Protein homodimerization activity	IDA	2542288
GO:0048407	Molecular function	Platelet-derived growth factor binding	IBA	21873635
GO:0048407	Molecular function	Platelet-derived growth factor binding	IDA	2554309, 8188664
GO:0048407	Molecular function	Platelet-derived growth factor binding	IPI	2536956, 10806482

Protein Information

Protein Name

Platelet-derived growth factor receptor alpha, CD140 antigen-like family member A, CD140a antigen, PDGF-R-alpha, alpha-type platelet-derived growth factor receptor, platelet-derived growth factor receptor 2, platelet-derived growth factor receptor, alpha polypeptide

Function

Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointestinal tract, and for recruitment of mesenchymal cells and normal development of intestinal villi. Plays a role in cell migration and chemotaxis in wound healing. Plays a role in platelet activation, secretion of agonists from platelet granules, and in thrombin-induced platelet aggregation. Binding of its cognate ligands - homodimeric PDGFA, homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFC -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PIK3R1, PLCG1, and PTPN11. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylates PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and thereby mediates activation of the AKT1 signaling pathway. Mediates activation of HRAS and of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3 and STAT5A and/or STAT5B. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor.

Refseq Proteins

NP_006197.1, NP_001334756.1, NP_001334757.1, NP_001334758.1, NP_001334759.1

UniProt

P16234

PDB

1GQ5, 5GRN, 5K5X

Pfam

Pfam Accession	Pfam ID
PF07679	I-set
PF07714	Pkinase_Tyr

PDGFRA

PDGFRA, HSD17B4 and HMGB2 are potential therapeutic targets in polycystic ovarian syndrome and breast cancer.