Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5156
Gene name Gene Name - the full gene name approved by the HGNC.
Platelet derived growth factor receptor alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDGFRA
Synonyms (NCBI Gene) Gene synonyms aliases
CD140A, PDGFR-2, PDGFR2
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q12
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121908585 A>T Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs121908586 T>A,C Not-provided, pathogenic Missense variant, coding sequence variant
rs121908587 C>T Pathogenic Missense variant, coding sequence variant
rs121908588 G>T Pathogenic, uncertain-significance Missense variant, coding sequence variant, genic downstream transcript variant
rs121908589 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004955 hsa-let-7b-5p qRT-PCR 17942906
MIRT006212 hsa-miR-34a-5p Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR 22479456
MIRT006218 hsa-miR-140-5p Luciferase reporter assay, Western blot 22012839
MIRT006218 hsa-miR-140-5p Luciferase reporter assay, Western blot 22012839
MIRT006212 hsa-miR-34a-5p Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR 22479456
Transcription factors
Transcription factor Regulation Reference
CEBPD Unknown 11278956
GLI1 Activation 21135115
GLI2 Activation 21135115
PAX1 Unknown 9826722
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001553 Process Luteinization IEA
GO:0001553 Process Luteinization ISS
GO:0001701 Process In utero embryonic development IEA
GO:0001775 Process Cell activation TAS 10508235
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
173490 8803 ENSG00000134853
Protein
UniProt ID P16234
Protein name Platelet-derived growth factor receptor alpha (PDGF-R-alpha) (PDGFR-alpha) (EC 2.7.10.1) (Alpha platelet-derived growth factor receptor) (Alpha-type platelet-derived growth factor receptor) (CD140 antigen-like family member A) (CD140a antigen) (Platelet-d
Protein 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 in
PDB 1GQ5 , 5GRN , 5K5X , 6A32 , 6JOI , 6JOJ , 6JOK , 6JOL , 7LBF , 7RAM , 8PQH , 8PQI , 8PQJ , 8PQK , 9GZH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 216 307 Immunoglobulin I-set domain Domain
PF07679 I-set 319 411 Immunoglobulin I-set domain Domain
PF07714 PK_Tyr_Ser-Thr 593 950 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Detected in platelets (at protein level). Widely expressed. Detected in brain, fibroblasts, smooth muscle, heart, and embryo. Expressed in primary and metastatic colon tumors and in normal colon tissue. {ECO:0000269|PubMed:2536956, ECO
Sequence
MGTSHPAFLVLGCLLTGLSLILCQLSLPSILPNENEKVVQLNSSFSLRCFGESEVSWQYP
MSEEESSDVEIRNEENNSGLFVTVLEVSSASAAHTGLYTCYYNHTQTEENELEGRHIYIY
VPDPDVAFVPLGMTDYLVIVEDDDSAIIPCRTTDPETPVTLHNSEGVVPASYDSRQGFNG
TFTVGPYICEATVKGKKFQTIPFNVYALKATSELDLEMEALKTVYKSGETIVVTCAVFNN
EVVDLQWTYPGEVKGKGITMLEEIKVPSIKLVYTLTVPEATVKDSGDYECAARQATREVK
EMKKVTI
SVHEKGFIEIKPTFSQLEAVNLHEVKHFVVEVRAYPPPRISWLKNNLTLIENL
TEITTDVEKIQEIRYRSKLKLIRAKEEDSGHYTIVAQNEDAVKSYTFELLT
QVPSSILDL
VDDHHGSTGGQTVRCTAEGTPLPDIEWMICKDIKKCNNETSWTILANNVSNIITEIHSRD
RSTVEGRVTFAKVEETIAVRCLAKNLLGAENRELKLVAPTLRSELTVAAAVLVLLVIVII
SLIVLVVIWKQKPRYEIRWRVIESISPDGHEYIYVDPMQLPYDSRWEFPRDGLVLGRVLG
SGAFGKVVEGTAYGLSRSQPVMKVAVKMLKPTARSSEKQALMSELKIMTHLGPHLNIVNL
LGACTKSGPIYIITEYCFYGDLVNYLHKNRDSFLSHHPEKPKKELDIFGLNPADESTRSY
VILSFENNGDYMDMKQADTTQYVPMLERKEVSKYSDIQRSLYDRPASYKKKSMLDSEVKN
LLSDDNSEGLTLLDLLSFTYQVARGMEFLASKNCVHRDLAARNVLLAQGKIVKICDFGLA
RDIMHDSNYVSKGSTFLPVKWMAPESIFDNLYTTLSDVWSYGILLWEIFSLGGTPYPGMM
VDSTFYNKIKSGYRMAKPDHATSEVYEIMVKCWNSEPEKRPSFYHLSEIV
ENLLPGQYKK
SYEKIHLDFLKSDHPAVARMRVDSDNAYIGVTYKNEEDKLKDWEGGLDEQRLSADSGYII
PLPDIDPVPEEEDLGKRNRHSSQTSEESAIETGSSSSTFIKREDETIEDIDMMDDIGIDS
SDLVEDSFL
Sequence length 1089
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
Phospholipase D signaling pathway
Endocytosis
PI3K-Akt signaling pathway
Focal adhesion
Gap junction
JAK-STAT signaling pathway
Regulation of actin cytoskeleton
Human cytomegalovirus infection
Pathways in cancer
MicroRNAs in cancer
Glioma
Prostate cancer
Melanoma
Central carbon metabolism in cancer
Choline metabolism in cancer
  PIP3 activates AKT signaling
Downstream signal transduction
Signaling by PDGF
Constitutive Signaling by Aberrant PI3K in Cancer
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
Signaling by PDGFRA extracellular domain mutants
Imatinib-resistant PDGFR mutants
Sunitinib-resistant PDGFR mutants
Regorafenib-resistant PDGFR mutants
Sorafenib-resistant PDGFR mutants
PDGFR mutants bind TKIs
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Gastrointestinal Polyps polyps, multiple and recurrent inflammatory fibroid, gastrointestinal rs121908589 N/A
Gastrointestinal stromal tumor gastrointestinal stromal tumor rs587776793, rs587776794, rs587776795, rs606231209, rs121908589 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital Heart Disease congenital heart disease N/A N/A GenCC
hereditary cancer Hereditary cancer N/A N/A ClinVar
Hypereosinophilic Syndrome idiopathic hypereosinophilic syndrome N/A N/A ClinVar
Myeloproliferative Neoplasm myeloproliferative neoplasm, unclassifiable N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 37960778
Absence of septum pellucidum Associate 31609499
Acute erythroleukemia Associate 34702313
Adenocarcinoma Associate 12537587, 23696935, 27105424
Adenocarcinoma Stimulate 33213472
Adenocarcinoma of Lung Associate 22975805, 40311306
Adenoma Pleomorphic Associate 20379686, 23696935
Adenomatous Polyposis Coli Associate 39519399
Alopecia Areata Associate 32461384
Alternating hemiplegia of childhood Associate 23765250