PDGFRA Gene
protein-coding GIFtS : 77
GCID: GC04 P055095
platelet-derived growth factor receptor, alpha polypeptide
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Aliasesfor PDGFRA gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Platelet-Derived Growth Factor Receptor, Alpha Polypeptide 1 2 EC 2.7.10.13 8 PDGFR21 2 3 CD140a1 Alpha-Type Platelet-Derived Growth Factor Receptor2 3 CD140A2 Platelet-Derived Growth Factor Receptor 22 3 PDGFRA/BCR Fusion2 PDGF-R-Alpha1 Platelet-Derived Growth Factor Receptor Alpha2 PDGFR-22 3 Rearranged-In-Hypereosinophilia-Platelet Derived Growth Factor Receptor AlphaFusion Protein2 PDGFR-Alpha1 Alpha Platelet-Derived Growth Factor Receptor3 RHEPDGFRA2 3 Platelet-Derived Growth Factor Alpha Receptor3 CD140 Antigen-Like Family Member A2 3 EC 2.7.108 CD140a Antigen2 3
Export aliases for PDGFRA gene to outside databases Previous GC identifers: GC04P054806 GC04P055065 GC04P054945 GC04P055010 GC04P054936 GC04P051043
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Summariesfor PDGFRA gene (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 PDGFRA : 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) UniProtKB/Swiss-Prot: PGFRA_HUMAN, P16234 Function : Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays anessential 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 summary
for PDGFRA : Platelet-derived growth factor receptors (PDGFRs) are catalytic receptors that have intracellular tyrosinekinase activity. They have roles in the regulation of many biological processes including embryonicdevelopment, angiogenesis, cell proliferation and differentiation, and contribute to the pathophysiology ofsome 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 inducereceptor dimerization and transphosphorylation at specific tyrosine residues upon binding. This activatesthe intracellular kinase activity, initiating intracellular signaling through the MAPK, PI 3-K and PKCgammapathways. Gene Wiki entry for PDGFRA
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Genomic Viewsfor PDGFRA 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 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000004.11 NC_018915.1 NT_022853.15 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the PDGFRA gene promoter: Max1 MAZR AML1a YY1 GATA-1 c-Rel SRY COMP1 c-Myb c-Myc Other transcription factors Search SABiosciences Chromatin IP Primers for PDGFRA Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat PDGFRA
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 4q12 Ensembl cytogenetic band: 4q12 HGNC cytogenetic band: 4q12 PDGFRA Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 4 GeneLoc Exon Structure
GeneLoc location for GC04P055095: view genomic region
(about GC identifiers )
Start:
55,095,264 bp from pter
End:
55,164,414 bp from pter
Size:
69,151 bases
Orientation:
plus strand
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Proteinsfor PDGFRA gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
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
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: PGFRA_HUMAN, P16234 (See
protein sequence )Recommended Name: Platelet-derived growth factor receptor alpha precursor Size : 1089 amino acids; 122670 Da
Subunit : Interacts with homodimeric PDGFA, PDGFB and PDGFC, and with heterodimers formed by PDGFA and PDGFB. Monomer inthe absence of bound ligand. Interaction with dimeric PDGFA, PDGFB and/or PDGFC leads to receptor dimerization, where both PDGFRA homodimers and heterodimers with PDGFRB are observed. Interacts (tyrosine phosphorylated) with SHB (via SH2 domain) (By similarity). Interacts (tyrosine phosphorylated) with SHF (via SH2 domain). Interacts (tyrosine phosphorylated) with SRC (via SH2 domain). Interacts (tyrosine phosphorylated) with PIK3R1. Interacts (tyrosine phosphorylated) with PLCG1 (via SH2 domain). Interacts (tyrosine phosphorylated) with CRK, GRB2 and GRB7. Interacts with human cytomegalovirus/HHV-5 envelop glycoprotein B/gB
Subcellular location : Cell membrane; Single-pass type I membrane protein. Note=The activated receptor is rapidlyinternalized and degraded
Sequence caution : Sequence=AAP69563.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for PDGFRA :1GQ5 (3D)
 
Secondary accessions : B2RE69 E9PBH0 Q6P4H5 Q96KZ7 Q9UD28Alternative splicing : 3 isoforms : P16234-1 P16234-2 P16234-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for PDGFRA: NX_P16234 Post-translational modifications:
N-glycosylated1
Ubiquitinated, leading to its degradation (Probable)1
Autophosphorylated on tyrosine residues upon ligand binding. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-731 and Tyr-742 is important for interaction with PIK3R1. Phosphorylation at Tyr-720 and Tyr-754 is important for interaction with PTPN11. Phosphorylation at Tyr-762 is important for interaction with CRK. Phosphorylation at Tyr-572 and Tyr-574 is important for interaction with SRC and SRC family members. Phosphorylation at Tyr-988 and Tyr-1018 is important for interaction with PLCG11
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P16234 4/39 DME Specific Peptides for PDGFRA (P16234 ) (see all 39 )PDGFRA Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_006197.1 ENSEMBL proteins: ENSP00000257290 ENSP00000425648 ENSP00000425626 ENSP00000424218 ENSP00000425902 ENSP00000426472 ENSP00000425232 Reactome Protein details: P16234 Human Recombinant Protein Products: Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6 ): About this table
PDGFRA for ontologies About GeneDecksing PDGFRA Antibody Products: Assay Products for PDGFRA:
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Protein
Domains / Familiesfor PDGFRA gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
PDGFRA for domains About GeneDecksing 5/14 InterPro domains/families (see all 14 ):
Graphical View of Domain Structure for InterPro Entry P16234 ProtoNet protein and cluster: P16234
4 Blocks protein families : IPB001824 Receptor tyrosine kinase IPB003598 Immunoglobulin C-2 type IPB008266 Tyrosine protein kinase IPB009134 Vascular endothelial growth factor receptor signature UniProtKB/Swiss-Prot: PGFRA_HUMAN, P16234 Similarity : Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamilySimilarity : Contains 5 Ig-like C2-type (immunoglobulin-like) domainsSimilarity : Contains 1 protein kinase domain
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Functionfor PDGFRA gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
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 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: PGFRA_HUMAN, P16234 Function : Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays anessential 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 Catalytic activity : ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphateEnzyme regulation : Present in an inactive conformation in the absence of bound ligand. Binding of PDGFA and/or PDGFBleads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by imatinib, nilotinib and sorafenib
Genatlas biochemistry entry for PDGFRA : platelet-derived growth factor receptor,alpha,growth arrest specific gene (gas),subunit,homodimerizing and heterodimerizing with PDGFRB,immunoglobulin superfamily Enzyme Numbers (IUBMB): EC 2.7.10.1 1 2 EC 2.7.10 2 Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for PDGFRA (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for PDGFRA (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: PDGFRA (NM_006206 ) Sino Biological Human cDNA Clone for PDGFRA DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PDGFRA Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat PDGFRA
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDGFRA
Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10 ): About this table
PDGFRA for ontologies About GeneDecksing 2 GenomeRNAi human phenotypes for PDGFRA :Animal Models: Mouse knock-outs for PDGFRA: Pdgfra tm2Sor Pdgfra tm1Sor 15/24 MGI mutant phenotypes (inferred from 15 alleles ) (MGI details for Pdgfra) (see all 24 ):
PDGFRA for phenotypes About GeneDecksing
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Pathways & Interactionsfor PDGFRA gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/49 super-pathways (see all 49 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Apoptotic Pathways in Synovial Fibroblasts 2 Signaling by FGFR 3 PIP3 activates AKT signaling 4 GPCR Pathway 5 Rho Family GTPases
Pathway sources See GeneCards unified pathways Show all pathways 5/6 EMD Millipore Pathways for PDGFRA (see all 6 )5/58 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PDGFRA (see all 58 )2
Cell Signaling Technology (CST) Pathways for PDGFRA 2 Tocris Bioscience Pathways for PDGFRA 5 GeneGo (Thomson Reuters) Pathways for PDGFRA 5/9 BioSystems Pathways for PDGFRA (see all 9 ) 5/30
Reactome Pathways for PDGFRA (see all 30 )1 PharmGKB Pathway for PDGFRA 5/11
Kegg Pathways (Kegg details for PDGFRA) (see all 11 ):
PDGFRA for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PDGFRA STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/108 Interacting proteins for PDGFRA (P16234 2 , 3 ENSP00000257290 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 108 )About this table Gene Ontology (GO): 5/59 biological process terms (GO ID links to tree view) (see all 59 ): About this table
PDGFRA for ontologies About GeneDecksing
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Drugs & Compoundsfor PDGFRA gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
PDGFRA for compounds About GeneDecksing Compounds for PDGFRA available from Tocris Bioscience About this table Compound Action
CAS
# PP 121 Dual kinase inhibitor; inhibits PI 3K family kinases [1092788-83-4] SU 6668 PDGFR, VEGFR and FGFR inhibitor [252916-29-3] AG 18 EGFR/PDGFR-kinase inhibitor [118409-57-7]
2 HMDB Compounds for PDGFRA About this table 3 DrugBank Compounds for PDGFRA About this table 10/21 Novoseek chemical compound relationships for PDGFRA gene (see all 21 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
imatinib
94.1
222
14645423 (5), 15928335 (4), 16294026 (3), 19013640 (3) (see all 99 )
sunitinib
81.8
13
19366796 (3), 17041096 (2), 17710208 (1), 17272980 (1) (see all 9 )
tyrosine
80.3
197
18478259 (3), 15750190 (2), 17452978 (2), 18084259 (2) (see all 99 )
pkc 412
68.8
4
12781364 (2), 17452978 (1), 17087936 (1)
ag-1296
57.5
1
16439802 (1)
vegf
35.7
27
18950958 (4), 18006812 (2), 19948069 (2), 15334938 (2) (see all 13 )
hydroxyurea
25.7
1
20010473 (1)
rapamycin
23.1
1
17041096 (1)
phosphatidylinositol
13.7
3
17452978 (1), 17141222 (1), 16186508 (1)
phosphotyrosine
8.59
3
8188664 (1), 15677564 (1)
Search CenterWatch for drugs/clinical trials and news about PDGFRA / PGFRA
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Transcriptsfor PDGFRA gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
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 ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for PDGFRA gene: NM_006206.4 Unigene Cluster for PDGFRA:
Platelet-derived growth factor receptor, alpha polypeptide Hs.74615 [show with all ESTs ] Unigene Representative Sequence: NM_006206 10 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000257290 (uc003haa.3 uc003han.4 ) ENST00000508170 (uc003hal.3 )ENST00000509092 (uc010igq.1 ) ENST00000512143 ENST00000509490 (uc003ham.2 )ENST00000503856 ENST00000504461 ENST00000512522 ENST00000461294 ENST00000507536 (uc003hao.1 )Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for PDGFRA (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for PDGFRA (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: PDGFRA (NM_006206 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PDGFRA Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat PDGFRA
Additional cDNA sequence: AK308353.1 AK311006.1 AK316578.1 BC015186.1 BC063414.1 L25829.1 M21574.1 M30494.1 X76079.1 X95095.1
18 DOTS entries : DT.448233 DT.40293682
DT.91753879 DT.100788397 DT.101975351 DT.91753880 DT.91753891 DT.95269491 DT.424870 DT.100788396 DT.121259196 DT.121259214 DT.100654088 DT.121259206 DT.95305194 DT.121259225 DT.70104408 DT.99977868 24/240 AceView cDNA sequences (see all 240 ):
F03485 AA969144 R81781 W70251 BM706203 F07234 CN483903 N69055 BM715043 AA207000 CA447048 F03514 F04824 F02116 H90646 AA055050 AW272703 BU737962 BG939663 BX480820 BM721602 BQ446932 BF196702 BC015186 GeneLoc Exon Structure 5/9 Alternative Splicing Database (ASD) splice patterns (SP) for PDGFRA (see all 9 ) About this scheme ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ SP1 :       -   -   -   -             -                   -       -     SP2 :       -   -   -   -             -                   -       -     SP3 :                                                 -     SP4 :                                                     SP5 :       -   -   -   -                                        
ExUns: 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 SP1 : -     -   -                 SP2 :                       SP3 : -                       SP4 :                       SP5 :                      
ECgene alternative splicing isoforms for PDGFRA
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Expression for PDGFRA gene
(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 PDGFRA expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TGATTGGTGG
About this image PDGFRA expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 10/22 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 22 ) Tissue Anatomical Compartment
Cell Category (developmental path) Heart Endocardium Cushion Mesenchymal Cells Endocardium Hypoblast Hypoblast Hypoblast Cells Extraembryonic Tissues Early Embryo (Zygote) Morula 8-Cell Embryo Early Embryo Head Mesenchyme Branchial Arch 3,4,6 Cardiac Neural Crest Cells Neural Crest Heart Outflow Tract Neural Crest Outflow Tract Cells Neural Crest Heart Outflow Tract Cushion Outflow Tract Cushion Cells Endocardium, Neural Crest Lateral Plate Mesoderm Intraembryonic Coelom Coelomic Epithelial Cells Reproductive System Lateral Plate Mesoderm Splanchnic Mesoderm Pericytes Pericytes Liver Mesoblastic Supporting Stroma Pre-stellate Cells Liver Liver Mesoblastic Supporting Stroma Submesothelial Cells Liver Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
Stem Cell Differentiation: 10/20 LifeMap Cells (see all 20 ) Name Category Neural stem cells (Fetal Stem / Progenitor Cell)Spinal Cord Extra-embryonic endoderm cells (Fetal Stem / Progenitor Cell)Extraembryonic Tissues Sclerotome cells (Primary Cell)Bone, Cartilage, Somite PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest PureStem™ progenitor W10 (Embryonic Progenitor Cell)Spheres (Directed differentia... )Chondrocyte-like cells (Direct differentiati... )Bone, Cartilage Mesoderm-like cells (Direct differentiati... )Mesoderm Mesendoderm-like cells (A scalable, suspensi... )
See PDGFRA Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for PDGFRA SOURCE GeneReport for Unigene cluster: Hs.74615 UniProtKB/Swiss-Prot: PGFRA_HUMAN, P16234 Tissue specificity : Detected in platelets (at protein level). Widely expressed. Detected in brain, fibroblasts, smoothmuscle, heart, and embryo. Expressed in primary and metastatic colon tumors and in normal colon tissue SABiosciences Expression via Pathway-Focused PCR Arrays including PDGFRA (see all 13 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for PDGFRABrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat PDGFRA QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat PDGFRA QIAGEN QuantiFast Probe-based Assays in human , mouse , rat PDGFRA In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDGFRA
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Orthologsfor PDGFRA gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for PDGFRA gene from 5/18 species (see all 18 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
PDGFRA1
platelet-derived growth factor receptor, alpha polypeptide
75.84(n) 80.57(a)
 
395509 NM_204749.1 NP_990080.1
lizard (Anolis carolinensis)
Reptilia
PDGFRA6
--
77(a)
1 ↔ 1
5(104062121-104104735)
African clawed frog (Xenopus laevis)
Amphibia
pdgfra-prov2
platelet derived growth factor receptor, alpha polypeptide
76.73(n)
 
BC043948.1
zebrafish (Danio rerio)
Actinopterygii
pdgfra2
platelet derived growth factor receptor alpha
78.74(n)
 
30745 AF200951.1
fruit fly (Drosophila melanogaster)
Insecta
CG32773
protein amino acid phosphorylation protein tyrosine more
32(a)
 
23E3 --
ENSEMBL Gene Tree for PDGFRA (if available)TreeFam Gene Tree for PDGFRA (if available)
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Paralogsfor PDGFRA gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for PDGFRA gene FLT4 2 FGFR4 2 PDGFRB 2 CSF1R 2 FGFR3 2 KIT 2 RET 2 KDR 2 FGFR1 2 FGFR2 2 FLT3 2 FLT1 2 5 SIMAP similar genes for PDGFRA using alignment to 5 protein entries: PGFRA_HUMAN (see all proteins ):CSF1R EPHA2 KIT PDGFRB FLT3
PDGFRA for paralogs About GeneDecksing
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Genomic Variantsfor PDGFRA gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , 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 Human Gene Mutation Database (HGMD) : PDGFRA 5/26 SABiosciences Cancer Mutation PCR Assays for PDGFRA (see all 26 ):
5/8 SABiosciences Cancer Mutation PCR Arrays containing PDGFRA (see all 8 ):
3 SABiosciences qBiomarker Copy Number PCR Arrays containing PDGFRA :
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing PDGFRA
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Disorders
/ Diseasesfor PDGFRA gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
PDGFRA for disorders About GeneDecksing OMIM gene information: 173490 OMIM disorders : 606764 607685 UniProtKB/Swiss-Prot: PGFRA_HUMAN, P16234
Note=A chromosomal aberration involving PDGFRA is found in some cases of hypereosinophilic syndrome. Interstitial chromosomal deletion del(4)(q12q12) causes the fusion of FIP1L1 and PDGFRA (FIP1L1-PDGFRA). Mutations that cause overexpression and/or constitutive activation of PDGFRA may be a cause of hypereosinophilic syndrome Defects in PDGFRA are a cause of gastrointestinal stromal tumor (GIST) [MIM:606764]. Note=Mutations that cause constitutive activation of PDGFRA may be a cause of gastrointestinal stromal tumor (GIST) 20/169 diseases for PDGFRA (see all 169 ): About MalaCards gastrointestinal stromal tumor hypereosinophilic syndrome hypereosinophilic syndrome, idiopathic, resistant to imatinib malignant peripheral nerve sheath tumor carney triad neural tube defect gastrointestinal stromal tumor, somatic rosai-dorfman disease supratentorial primitive neuroectodermal tumor primitive neuroectodermal tumor cleft lip/palate juvenile myelomonocytic leukemia chronic venous leg ulcers polycythemia vera central nervous system lymphoma lymphomatoid papulosis spina bifida fibrous histiocytoma graft versus host disease dermatofibrosarcoma protuberans 12 diseases from the University of Copenhagen DISEASES database for PDGFRA :Gastrointestinal stromal tumor Eosinophilia Mastocytosis Leukemia Malignant glioma Endomyocardial fibrosis Chondroma Sarcoma Mesenchymal cell neoplasm Neurofibromatosis Myelofibrosis Leiomyosarcoma 10/94 Novoseek disease relationships for PDGFRA gene (see all 94 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
gastrointestinal stromal tumor
95.8
173
18657298 (4), 20096441 (3), 16630479 (2), 17638656 (2) (see all 99 )
leukemia eosinophilic
87.3
12
16418325 (1), 16498388 (1), 15995324 (1), 19210352 (1) (see all 9 )
hypereosinophilic syndrome
86.9
19
12842979 (1), 16418325 (1), 17634706 (1), 16965435 (1) (see all 16 )
carney triad
82.4
4
17193822 (1), 17549339 (1), 18312355 (1), 17021135 (1)
idiopathic hypereosinophilic syndrome
73.9
6
16343267 (1), 19176456 (1), 15772698 (1), 12660384 (1)
idiopathic eosinophilia
73.7
2
16610578 (1)
myeloproliferative neoplasm
70.6
8
20107158 (2), 18971950 (1), 19175693 (1), 20126996 (1)
tumors
67.9
305
8548759 (6), 18758297 (4), 17527083 (4), 20393746 (4) (see all 99 )
mastocytosis systemic
66.4
9
16610578 (1), 12676775 (1), 15995325 (1), 15036941 (1)
neurofibromatosis type 1
65.4
10
15540118 (2), 16143881 (1), 17193822 (1), 18671247 (1) (see all 8 )
Genetic Association Database (GAD): PDGFRA Human Genome Epidemiology (HuGE) Navigator: PDGFRA (58 documents) Tumor Gene Database (TGDB) : PDGFRA Export disorders for PDGFRA gene to outside databases
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Publicationsfor PDGFRA gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for PDGFRA gene, integrated from 9 sources (see all 775 ): (articles sorted by number of sources associating them with PDGFRA) Utopia : connect your pdf to the dynamic world of online information
PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. (PubMed id 15928335) 1 , 2 , 7, 9 Corless C.L....Heinrich M.C. (2005) Epithelioid gastrointestinal stromal tumor with PDGFRA activating mutation and immunoreactivity. (PubMed id 15894928) 1 , 7, 9 Yi E.S....Weidner N. (2005) Negative feedback regulation of human platelets via autocrine activation of the platelet-derived growth factor alpha-receptor. (PubMed id 8188664) 1 , 2 , 9 Vassbotn F.S....Holmsen H. (1994) Promotor genotype of the platelet-derived growth factor receptor-alpha gene shows population stratification but not association with spina bifida meningomyelocele. (PubMed id 16283668) 1 , 4, 9 Au K.S....King T.M. (2005) A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. (PubMed id 12660384) 1 , 2 , 9 Cools J.... Gilliland D.G. (2003) Deletions affecting codons 557-558 of the c-KIT gene indicate a poor prognosis in patients with completely resected gastrointestinal stromal tumors: a study by the Spanish Group for Sarcoma Research (GEIS). (PubMed id 16135486) 1 , 4, 9 Martin J....Buesa J.M. (2005) PDGFRA activating mutations in gastrointestinal stromal tumors. (PubMed id 12522257) 1 , 2 , 9 Heinrich M.C....Fletcher J.A. (2003) Promoter haplotype combinations of the platelet-derived growth factor alpha-receptor gene predispose to human neural tube defects. (PubMed id 11175793) 1 , 4, 9 Joosten P.H....Van Zoelen E.J. (2001) Novel imatinib-sensitive PDGFRA-activating point muta tions in hypereosinophilic syndrome induce growth factor independence and leuke mia-like disease. (PubMed id 21224473) 1 , 2 Elling C....Koschmieder S. (2011) The Casitas B lineage lymphoma (Cbl) mutant G306E enhances osteogenic differentiation in human mesenchymal stromal cells in part by decreased Cbl-mediated platelet-derived growth factor receptor alpha and fibroblast growth factor receptor 2 ubiquitination. (PubMed id 21596750) 1 , 2 Severe N.... Marie P.J. (2011)
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External Searches for PDGFRA gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing PDGFRA gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing PDGFRA gene
(According to HUGE )
About This Section --
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Specialized Databases showing PDGFRA gene (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
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About This Section Patent Information for PDGFRA gene: Search GeneIP for patents involving PDGFRA GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor PDGFRA gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for PDGFRA OriGene shRNA RFP for PDGFRA OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for PDGFRA OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for PDGFRA OriGene Protein Over-expression Lysate for PDGFRA Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for PDGFRA OriGene 3'-UTR Clone for PDGFRA OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for PDGFRA OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for PDGFRA Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for PDGFRA OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for PDGFRA OriGene Custom Protein Services for PDGFRA OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PDGFRA QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing PDGFRA QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat PDGFRA QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat PDGFRA QIAGEN QuantiFast Probe-based Assays in human , mouse , rat PDGFRA QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat PDGFRA
Antibodies & Assays for PDGFRA  
Recombinant Protein for PDGFRA
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDGFRA
ThermoFisher Antibody for PDGFRA
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat PDGFRA
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