Property Summary

NCBI Gene PubMed Count 395
Grant Count 247
R01 Count 141
Funding $31,465,641.89
PubMed Score 753.05
PubTator Score 1015.31

Knowledge Summary

Patent (32,454)

TINX Plot

  Disease Relevance (65)

Disease Z-score Confidence
Eosinophilia 65 5.764 2.9
Cancer 2,346 5.746 2.9
Mastocytosis 27 4.734 2.4
Neurofibromatosis 37 3.974 2.0
Endomyocardial Fibrosis 10 3.854 1.9
Chondroma 12 3.836 1.9
Loeffler endocarditis 2 3.432 1.7
Polycythemia Vera 24 3.128 1.6
Atopic dermatitis 944
Breast cancer 3,094
Carcinoma 2,147 1.0
Chondrosarcoma, Mesenchymal 5
Chronic eosinophilic leukemia 11
Cleft palate 125
Congenital abnormality of respiratory sy... 3 
Connective tissue cancer 9 2.0
Craniofacial Abnormalities 147
Duchenne muscular dystrophy 602
Fetal Death 4
Follicular thyroid carcinoma 11
Gastrointestinal Stromal Tumors 8
Gastrointestinal stromal tumor 61 2.0
Globe disease 57 2.0
Hamman-Rich syndrome 35
Hypereosinophilic syndrome 2
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIB... 20 
Lung diseases 48
Neuropathic diabetic ulcer - foot 2
Pancreatic Neuroendocrine Tumor 45
Papillary thyroid carcinoma 37
Refractive error 43 2.0
Regular astigmatism - corneal 3
Renal Cell Carcinoma 199
Sarcoma of soft tissue 11
adrenocortical adenoma 134
adrenocortical carcinoma 1,427
astrocytic glioma 2,241
autosomal dominant Emery-Dreifuss muscul... 499 
breast carcinoma 1,614
colon cancer 1,475
cystic fibrosis 1,665
ductal carcinoma in situ 1,745
glioblastoma 5,572
group 3 medulloblastoma 2,254
intraductal papillary-mucinous carcinoma... 2,988 
intraductal papillary-mucinous neoplasm ... 3,289 
invasive ductal carcinoma 2,950
lung adenocarcinoma 2,713
lung cancer 4,466
lung carcinoma 2,844
malignant mesothelioma 3,162
medulloblastoma 1,524
medulloblastoma, large-cell 6,234
non-small cell lung cancer 2,798
oligodendroglioma 2,849
osteosarcoma 7,933
ovarian cancer 8,484
pancreatic cancer 2,300
pilocytic astrocytoma 3,086
pituitary cancer 1,972
primary Sjogren syndrome 789
primary pancreatic ductal adenocarcinoma 1,271
psoriasis 6,685
spina bifida 1,064
ulcerative colitis 2,087

Expression

  Differential Expression (31)

Synonym

Accession P16234 B2RE69 E9PBH0 Q6P4H5 Q96KZ7 Q9UD28 PDGF-R-alpha
Symbols GAS9
CD140A
PDGFR2
PDGFR-2
RHEPDGFRA

Gene

PDB

1GQ5   5K5X  

  TechDev Info (1)

Michael McManus Genetic interaction screen

 GWAS Trait (1)

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
1982 other 0 / 0 / 0 Kinase inhibition selectivity assay for compound SID-48409448

Gene RIF (345)

PMID Text
26867653 Our data support those recently published in a meta-analysis on 1487 patients proving that GISTs bearing KIT mutations have a significantly poorer prognosis than either PDGFRA mutated or WT GISTs
26772734 we retrospectively examined correlations between clinical outcomes and KIT/PDGFRA mutational status in a subset of imatinib-resistant or -intolerant patients with stromal tumor participating in a worldwide, open-label treatment-use study
26544626 Data characterized metastatic exon 11 mutant gastrointestinal stromal tumors (GIST) genetic susceptibility genes beyond kit proto-oncogene protein (KIT)/PDGF alpha receptor (PDGFRalpha) genotype.
26297547 miR-140-5p acts as a tumor suppressor during ovarian carcinogenesis, inhibiting ovarian cancer growth partially by repressing PDGFRA expression.
26284551 Platelet-derived growth factor-BB enhances adipogenesis in orbital fibroblasts, and, thus, may contribute to adipose tissue expansion in GO.
26191304 Case Report/Review: PDGFRA exon 18 mutation in myxoid epithelioid gastrointestinal stromal tumor.
26191303 case Report/Review: therapy-related acute myeloid leukemia with t(4:14)(q12;q24) and PDGFRA gene rearrangement.
26191287 16.0% of the gastrointestinal stromal tumors samples studied had a mutation in PDGFRA
26189259 Microarray data of the expression level of key genes reveals that PDGFRA is critical for cervical cancer invasion and metastasis.
25970686 KIT-mutated patients had a worse outcome than PDGFRA-mutated or triple-negative (KIT, PDGFRA, BRAF wild-type) cases
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AA Sequence

MGTSHPAFLVLGCLLTGLSLILCQLSLPSILPNENEKVVQLNSSFSLRCFGESEVSWQYPMSEEESSDVE      1 - 70
IRNEENNSGLFVTVLEVSSASAAHTGLYTCYYNHTQTEENELEGRHIYIYVPDPDVAFVPLGMTDYLVIV     71 - 140
EDDDSAIIPCRTTDPETPVTLHNSEGVVPASYDSRQGFNGTFTVGPYICEATVKGKKFQTIPFNVYALKA    141 - 210
TSELDLEMEALKTVYKSGETIVVTCAVFNNEVVDLQWTYPGEVKGKGITMLEEIKVPSIKLVYTLTVPEA    211 - 280
TVKDSGDYECAARQATREVKEMKKVTISVHEKGFIEIKPTFSQLEAVNLHEVKHFVVEVRAYPPPRISWL    281 - 350
KNNLTLIENLTEITTDVEKIQEIRYRSKLKLIRAKEEDSGHYTIVAQNEDAVKSYTFELLTQVPSSILDL    351 - 420
VDDHHGSTGGQTVRCTAEGTPLPDIEWMICKDIKKCNNETSWTILANNVSNIITEIHSRDRSTVEGRVTF    421 - 490
AKVEETIAVRCLAKNLLGAENRELKLVAPTLRSELTVAAAVLVLLVIVIISLIVLVVIWKQKPRYEIRWR    491 - 560
VIESISPDGHEYIYVDPMQLPYDSRWEFPRDGLVLGRVLGSGAFGKVVEGTAYGLSRSQPVMKVAVKMLK    561 - 630
PTARSSEKQALMSELKIMTHLGPHLNIVNLLGACTKSGPIYIITEYCFYGDLVNYLHKNRDSFLSHHPEK    631 - 700
PKKELDIFGLNPADESTRSYVILSFENNGDYMDMKQADTTQYVPMLERKEVSKYSDIQRSLYDRPASYKK    701 - 770
KSMLDSEVKNLLSDDNSEGLTLLDLLSFTYQVARGMEFLASKNCVHRDLAARNVLLAQGKIVKICDFGLA    771 - 840
RDIMHDSNYVSKGSTFLPVKWMAPESIFDNLYTTLSDVWSYGILLWEIFSLGGTPYPGMMVDSTFYNKIK    841 - 910
SGYRMAKPDHATSEVYEIMVKCWNSEPEKRPSFYHLSEIVENLLPGQYKKSYEKIHLDFLKSDHPAVARM    911 - 980
RVDSDNAYIGVTYKNEEDKLKDWEGGLDEQRLSADSGYIIPLPDIDPVPEEEDLGKRNRHSSQTSEESAI    981 - 1050
ETGSSSSTFIKREDETIEDIDMMDDIGIDSSDLVEDSFL                                  1051 - 1089
//

Text Mined References (412)

PMID Year Title
26867653 2016 Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutations.
26772734 2016 Correlation of KIT and PDGFRA mutational status with clinical benefit in patients with gastrointestinal stromal tumor treated with sunitinib in a worldwide treatment-use trial.
26544626 2015 Molecular characterization of metastatic exon 11 mutant gastrointestinal stromal tumors (GIST) beyond KIT/PDGFR? genotype evaluated by next generation sequencing (NGS).
26297547 2015 miR-140-5p inhibits ovarian cancer growth partially by repression of PDGFRA.
26284551 2015 Platelet-Derived Growth Factor-BB Enhances Adipogenesis in Orbital Fibroblasts.
26191304 2015 Myxoid epithelioid gastrointestinal stromal tumor harboring an unreported PDGFRA mutation: report of a case and review of the literature.
26191303 2015 Therapy-related acute myeloid leukemia with eosinophilia, basophilia, t(4;14)(q12;q24) and PDGFRA rearrangement: a case report and review of the literature.
26191287 2015 Presence of PDGFRA and DOG1 mutations in gastrointestinal stromal tumors among Chinese population.
26189259 2015 Cervical squamous cancer mRNA profiles reveal the key genes of metastasis and invasion.
25970686 2015 KIT, PDGFRA, and BRAF mutational spectrum impacts on the natural history of imatinib-naive localized GIST: a population-based study.
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