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PDGFRA (platelet derived growth factor receptor alpha)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5156
Gene nameGene Name - the full gene name approved by the HGNC.
Platelet derived growth factor receptor alpha
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PDGFRA
SynonymsGene synonyms aliases
CD140A, PDGFR-2, PDGFR2
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q12
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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:0000165 Process MAPK cascade TAS
GO:0001553 Process Luteinization ISS
GO:0001701 Process In utero embryonic development IEA
GO:0001775 Process Cell activation TAS 10508235
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Burkitt`s lymphoma Burkitt Lymphoma rs28933407, rs121918683, rs121918684 21304535, 26191303
Colonic neoplasms Colonic Neoplasms rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483
Esophagus neoplasm Esophageal Neoplasms rs28934578, rs121918714, rs1567556006, rs1575166666
Unknown
Disease name Disease term dbSNP ID References
Astigmatism Astigmatism 22144915
Congestive heart failure Congestive heart failure rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569 28347583
Corneal astigmatism Regular astigmatism - corneal 22144915
Drachtman weinblatt sitarz syndrome Congenital neurologic anomalies

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