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Aliases for PDGFA Gene

Aliases for PDGFA Gene

  • Platelet Derived Growth Factor Subunit A 2 3 5
  • Platelet-Derived Growth Factor Alpha Polypeptide 2 3 4
  • Platelet-Derived Growth Factor Alpha Chain 2 3
  • PDGF Subunit A 3 4
  • PDGF A-Chain 2 3
  • PDGF1 3 4
  • Platelet-Derived Growth Factor Subunit A 3
  • Platelet-Derived Growth Factor A-Chain 3
  • Platelet-Derived Growth Factor A Chain 4
  • PDGF-A 3
  • PDGF-1 4

External Ids for PDGFA Gene

Previous GeneCards Identifiers for PDGFA Gene

  • GC07U990063
  • GC07Mh00634
  • GC07M000503
  • GC07M000536
  • GC07M000455

Summaries for PDGFA Gene

Entrez Gene Summary for PDGFA Gene

  • This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

GeneCards Summary for PDGFA Gene

PDGFA (Platelet Derived Growth Factor Subunit A) is a Protein Coding gene. Diseases associated with PDGFA include Denys-Drash Syndrome and Pulmonary Fibrosis, Idiopathic. Among its related pathways are ERK Signaling and Focal Adhesion. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and growth factor activity. An important paralog of this gene is PDGFB.

UniProtKB/Swiss-Prot for PDGFA Gene

  • Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Required for normal lung alveolar septum formation during embryogenesis, normal development of the gastrointestinal tract, normal development of Leydig cells and spermatogenesis. Required for normal oligodendrocyte development and normal myelination in the spinal cord and cerebellum. Plays an important role in wound healing. Signaling is modulated by the formation of heterodimers with PDGFB (By similarity).

Tocris Summary for PDGFA 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.

Gene Wiki entry for PDGFA Gene

Additional gene information for PDGFA Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDGFA Gene

Genomics for PDGFA Gene

GeneHancer (GH) Regulatory Elements for PDGFA Gene

Promoters and enhancers for PDGFA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J000511 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 660.7 +4.4 4378 9.2 PKNOX1 SIN3A ZNF2 ETS1 GLIS2 ZNF143 FOS KLF13 ZNF263 SP3 PDGFA HRAT92 GET4 GC07P000522 ENSG00000234471
GH07J000521 Enhancer 1.1 ENCODE dbSUPER 650.7 -1.5 -1469 1.9 GLIS2 ATF7 RUNX3 REST MEF2D SMARCA4 GLIS1 SP7 KLF1 ZNF777 HRAT92 GC07P000522 PDGFA GC07P000552
GH07J000522 Enhancer 0.8 ENCODE dbSUPER 650.7 -0.4 -431 0.2 KLF1 ZBTB48 GMEB1 HDAC2 MLLT1 ZBTB33 ZSCAN29 EZH2 PDGFA HRAT92 GC07P000522 GC07P000552
GH07J000871 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10 -355.2 -355172 7.7 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 NFYC GET4 DNAAF5 SUN1 INTS1 ENSG00000273230 ENSG00000233082 PSMG3-AS1 ENSG00000242474 ENSG00000225981 WI2-2373I1.2
GH07J000332 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +187.5 187548 2.2 FOXA2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 GLIS2 ARID2 ZNF143 LOC105375118 PDGFA HRAT92 PRKAR1B GC07M000325 GC07M000327
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDGFA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDGFA gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • STAT5A
  • Sp1

Genomic Locations for PDGFA Gene

Genomic Locations for PDGFA Gene
chr7:497,258-520,668
(GRCh38/hg38)
Size:
23,411 bases
Orientation:
Minus strand
chr7:536,895-559,933
(GRCh37/hg19)
Size:
23,039 bases
Orientation:
Minus strand

Genomic View for PDGFA Gene

Genes around PDGFA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDGFA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDGFA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDGFA Gene

Proteins for PDGFA Gene

  • Protein details for PDGFA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04085-PDGFA_HUMAN
    Recommended name:
    Platelet-derived growth factor subunit A
    Protein Accession:
    P04085
    Secondary Accessions:
    • B5BU73

    Protein attributes for PDGFA Gene

    Size:
    211 amino acids
    Molecular mass:
    24043 Da
    Quaternary structure:
    • Homodimer; antiparallel disulfide-linked dimer. Heterodimer with PDGFB; antiparallel disulfide-linked dimer. The PDGFA homodimer interacts with PDGFRA homodimers, and with heterodimers formed by PDGFRA and PDGFRB. The heterodimer composed of PDGFA and PDGFB interacts with PDGFRA homodimers, and with heterodimers formed by PDGFRA and PDGFRB. Interacts with CSPG4.

    Three dimensional structures from OCA and Proteopedia for PDGFA Gene

    Alternative splice isoforms for PDGFA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDGFA Gene

Post-translational modifications for PDGFA Gene

  • Glycosylation at Asn134
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PDGFA Gene

Domains & Families for PDGFA Gene

Gene Families for PDGFA Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P04085

UniProtKB/Swiss-Prot:

PDGFA_HUMAN :
  • The long form contains a basic insert which acts as a cell retention signal.
  • Belongs to the PDGF/VEGF growth factor family.
Domain:
  • The long form contains a basic insert which acts as a cell retention signal.
Family:
  • Belongs to the PDGF/VEGF growth factor family.
genes like me logo Genes that share domains with PDGFA: view

Function for PDGFA Gene

Molecular function for PDGFA Gene

UniProtKB/Swiss-Prot Function:
Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Required for normal lung alveolar septum formation during embryogenesis, normal development of the gastrointestinal tract, normal development of Leydig cells and spermatogenesis. Required for normal oligodendrocyte development and normal myelination in the spinal cord and cerebellum. Plays an important role in wound healing. Signaling is modulated by the formation of heterodimers with PDGFB (By similarity).
GENATLAS Biochemistry:
platelet-derived growth factor,alpha polypeptide,24kDa,potent mitogen for cells of mesenchymal origin,also involved in transformation process

Gene Ontology (GO) - Molecular Function for PDGFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005161 platelet-derived growth factor receptor binding IPI 2536956
GO:0005515 protein binding IPI 7679113
GO:0005518 collagen binding IDA 8900172
GO:0008083 growth factor activity IDA,IEA 12070119
genes like me logo Genes that share ontologies with PDGFA: view
genes like me logo Genes that share phenotypes with PDGFA: view

Animal Models for PDGFA Gene

MGI Knock Outs for PDGFA:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PDGFA Gene

Localization for PDGFA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDGFA Gene

Secreted. Note=Released by platelets upon wounding.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDGFA gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
golgi apparatus 4
cytoskeleton 3
nucleus 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDGFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 3754619
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with PDGFA: view

Pathways & Interactions for PDGFA Gene

SuperPathways for PDGFA Gene

SuperPathway Contained pathways
1 RET signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 PI3K/AKT activation
4 GPCR Pathway
5 ERK Signaling
genes like me logo Genes that share pathways with PDGFA: view

SIGNOR curated interactions for PDGFA Gene

Activates:

Gene Ontology (GO) - Biological Process for PDGFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001525 angiogenesis ISS --
GO:0001775 cell activation TAS 10508235
GO:0001942 hair follicle development ISS --
GO:0002053 positive regulation of mesenchymal cell proliferation ISS --
genes like me logo Genes that share ontologies with PDGFA: view

Drugs & Compounds for PDGFA Gene

(18) Drugs for PDGFA Gene - From: DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sunitinib Approved, Investigational Pharma inhibitor VEGFR/PDGFRβ/ KIT/ FLT3/RET/CSF-1R inhibitor, RTK inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors, Potent VEGFR, PDGFRbeta and KIT inhibitor 518
Nintedanib (BIBF 1120) Pharma VEGFR/PDGFR/FGFR inhibitor 0
DMPQ dihydrochloride Pharma Potent, selective inhibitor of PDGFRbeta 0
Toceranib Pharma c-Kit/VEGFR/PDGFR inhibtor, Potent PDGFR and VEGFR inhibitor 0

(15) Additional Compounds for PDGFA Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SU 6668
252916-29-3

(3) Tocris Compounds for PDGFA Gene

Compound Action Cas Number
DMPQ dihydrochloride Potent, selective inhibitor of PDGFRbeta 1123491-15-5
SU 6668 PDGFR, VEGFR and FGFR inhibitor 252916-29-3
Toceranib Potent PDGFR and VEGFR inhibitor 356068-94-5
genes like me logo Genes that share compounds with PDGFA: view

Transcripts for PDGFA Gene

mRNA/cDNA for PDGFA Gene

(8) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PDGFA Gene

Platelet-derived growth factor alpha polypeptide:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDGFA Gene

No ASD Table

Relevant External Links for PDGFA Gene

GeneLoc Exon Structure for
PDGFA
ECgene alternative splicing isoforms for
PDGFA

Expression for PDGFA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDGFA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDGFA Gene

This gene is overexpressed in Artery - Aorta (x4.4).

Protein differential expression in normal tissues from HIPED for PDGFA Gene

This gene is overexpressed in Peripheral blood mononuclear cells (57.2) and Islet of Langerhans (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PDGFA Gene



Protein tissue co-expression partners for PDGFA Gene

NURSA nuclear receptor signaling pathways regulating expression of PDGFA Gene:

PDGFA

SOURCE GeneReport for Unigene cluster for PDGFA Gene:

Hs.535898

Evidence on tissue expression from TISSUES for PDGFA Gene

  • Muscle(2.7)
  • Lung(2.6)
  • Heart(2.5)
  • Kidney(2.3)
  • Nervous system(2.3)
  • Skin(2.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with PDGFA: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDGFA Gene

Orthologs for PDGFA Gene

This gene was present in the common ancestor of chordates.

Orthologs for PDGFA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDGFA 34 33
  • 97.14 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PDGFA 34 33
  • 88.95 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pdgfa 16 34 33
  • 87.76 (n)
rat
(Rattus norvegicus)
Mammalia Pdgfa 33
  • 87.59 (n)
cow
(Bos Taurus)
Mammalia PDGFA 34 33
  • 86.7 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDGFA 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDGFA 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDGFA 33
  • 77.32 (n)
PDGF-A 34
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDGFA 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdgfa 33
  • 73.9 (n)
Str.20307 33
African clawed frog
(Xenopus laevis)
Amphibia PDGFA 33
zebrafish
(Danio rerio)
Actinopterygii pdgfaa 34 33
  • 64.76 (n)
OneToMany
pdgfab 34
  • 50 (a)
OneToMany
pdgfa 33
Species where no ortholog for PDGFA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PDGFA Gene

ENSEMBL:
Gene Tree for PDGFA (if available)
TreeFam:
Gene Tree for PDGFA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDGFA: view image

Paralogs for PDGFA Gene

Paralogs for PDGFA Gene

(1) SIMAP similar genes for PDGFA Gene using alignment to 4 proteins:

  • PDGFA_HUMAN
  • H7BYW6_HUMAN
  • Q32M96_HUMAN
  • Q9UGN0_HUMAN
genes like me logo Genes that share paralogs with PDGFA: view

Variants for PDGFA Gene

Sequence variations from dbSNP and Humsavar for PDGFA Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000045852 -- 497,632(-) C/T 3_prime_UTR_variant
rs1000155153 -- 505,880(-) C/A intron_variant
rs1000175026 -- 519,292(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000288632 -- 520,568(-) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000320874 -- 520,737(-) G/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PDGFA Gene

Variant ID Type Subtype PubMed ID
esv2733620 CNV deletion 23290073
nsv1074989 CNV deletion 25765185
nsv1119098 CNV deletion 24896259
nsv1137182 CNV deletion 24896259
nsv1137568 CNV deletion 24896259
nsv1144158 CNV deletion 24896259
nsv950782 CNV deletion 24416366

Variation tolerance for PDGFA Gene

Residual Variation Intolerance Score: 62.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.69; 14.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDGFA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDGFA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDGFA Gene

Disorders for PDGFA Gene

MalaCards: The human disease database

(10) MalaCards diseases for PDGFA Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
denys-drash syndrome
  • dds
pulmonary fibrosis, idiopathic
  • ipf
pulmonary fibrosis
  • fibrosis of lung
wrinkles
glioblastoma
  • glioblastoma multiforme
- elite association - COSMIC cancer census association via MalaCards
Search PDGFA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PDGFA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PDGFA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDGFA Gene

Publications for PDGFA Gene

  1. DNA sequence variants of the platelet-derived growth factor A-chain gene. (PMID: 11678848) Baron R … Drazen JM (Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2001) 3 22 44 58
  2. The human platelet-derived growth factor alpha chain (PDGFA) gene maps to chromosome 7p22. (PMID: 1505216) Stenman G … Betsholtz C (Cytogenetics and cell genetics 1992) 2 3 22 58
  3. Platelet-derived growth factor A chain: confirmation of localization of PDGFA to chromosome 7p22 and description of an unusual minisatellite. (PMID: 1612586) Bonthron D … Speleman F (Genomics 1992) 3 4 22 58
  4. Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population. (PMID: 20485444) Wang Y … Huang W (Journal of human genetics 2010) 3 44 58
  5. Structures of a platelet-derived growth factor/propeptide complex and a platelet-derived growth factor/receptor complex. (PMID: 20534510) Shim AH … He X (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 58

Products for PDGFA Gene

Sources for PDGFA Gene