PDGFRB (platelet derived growth factor receptor beta) - Rat Genome Database

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Gene: PDGFRB (platelet derived growth factor receptor beta) Homo sapiens
Analyze
Symbol: PDGFRB
Name: platelet derived growth factor receptor beta
RGD ID: 732897
HGNC Page HGNC
Description: Enables several functions, including growth factor binding activity; platelet-derived growth factor beta-receptor activity; and platelet-derived growth factor receptor binding activity. Involved in several processes, including platelet-derived growth factor receptor signaling pathway; positive regulation of phosphate metabolic process; and protein phosphorylation. Located in Golgi apparatus and membrane. Is intrinsic component of plasma membrane. Implicated in basal ganglia calcification; glioblastoma; infantile myofibromatosis; myeloproliferative neoplasm (multiple); and renal cell carcinoma. Biomarker of Kuhnt-Junius degeneration; breast cancer (multiple); renal cell carcinoma; and reproductive organ cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Activated tyrosine kinase PDGFRB; beta-type platelet-derived growth factor receptor; CD140 antigen-like family member B; CD140B; IBGC4; IMF1; JTK12; KOGS; NDEL1-PDGFRB; PDGF-R-beta; PDGFR; PDGFR-1; PDGFR-beta; PDGFR1; PENTT; platelet-derived growth factor receptor 1; platelet-derived growth factor receptor beta; platelet-derived growth factor receptor, beta polypeptide
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   AASTH54_H  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5150,113,839 - 150,155,872 (-)EnsemblGRCh38hg38GRCh38
GRCh385150,113,839 - 150,155,845 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375149,493,402 - 149,535,408 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365149,473,595 - 149,515,615 (-)NCBINCBI36hg18NCBI36
Build 345149,473,595 - 149,515,503NCBI
Celera5145,574,776 - 145,616,798 (-)NCBI
Cytogenetic Map5q32NCBI
HuRef5144,641,381 - 144,683,476 (-)NCBIHuRef
CHM1_15148,925,983 - 148,968,003 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
atherosclerosis  (ISO)
basal ganglia calcification  (IEA,ISS)
basal ganglia disease  (EXP)
Brain Injuries  (ISO)
breast cancer  (IEP)
breast carcinoma  (IEP)
Breast Neoplasms  (ISO)
calcinosis  (EXP)
Cardiomegaly  (ISO)
choriocarcinoma  (IEP)
Chronic Allograft Nephropathy  (ISO)
Colonic Neoplasms  (ISO)
Dandy-Walker syndrome  (IAGP)
Diabetic Nephropathies  (IEP)
Endometrioid Carcinomas  (IEP)
Experimental Autoimmune Encephalomyelitis  (ISO)
Experimental Colitis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (EXP,ISO)
extrahepatic cholestasis  (ISO)
familial adenomatous polyposis 1  (IAGP)
genetic disease  (IAGP)
glioblastoma  (IMP)
Hereditary Neoplastic Syndromes  (IAGP)
Hydatidiform Mole  (IEP)
Hyperoxia  (ISO)
hypertension  (ISO)
Idiopathic Basal Ganglia Calcification 1  (EXP)
Idiopathic Basal Ganglia Calcification 4  (IAGP)
infantile myofibromatosis  (EXP,IAGP)
Infantile Myofibromatosis 1  (IAGP)
Intimal Hyperplasia  (ISO)
Kidney Reperfusion Injury  (ISO)
Kosaki Overgrowth Syndrome  (IAGP)
Kuhnt-Junius degeneration  (IEP)
Leydig cell tumor  (IEP)
Lung Neoplasms  (ISO)
microcephaly  (IAGP)
middle cerebral artery infarction  (ISO)
myeloproliferative disorder with eosinophilia  (IAGP)
myeloproliferative neoplasm  (IAGP,ISS)
Neointima  (ISO)
Neoplasm Metastasis  (IEP,IMP)
Neurodevelopmental Disorders  (IAGP)
oligohydramnios  (ISO)
Ovarian Neoplasms  (IEP)
Parkinsonism  (IAGP)
Penttinen-Aula Syndrome  (IAGP)
prostate cancer  (ISO)
renal cell carcinoma  (IEP,IMP)
sciatic neuropathy  (ISO)
severe nonproliferative diabetic retinopathy  (ISS)
Subarachnoid Hemorrhage  (ISO)
Transplant Rejection  (ISO)
Wounds and Injuries  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dihydromyricetin  (ISO)
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(R,R,R)-alpha-tocopherol  (ISO)
(S)-nicotine  (EXP,ISO)
1-naphthyl isothiocyanate  (EXP)
1-nitropyrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2-(2-Chlorophenyl-4'-chlorophenyl)-1,1-dichloroethene  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6,7-dimethoxy-2-phenylquinoxaline  (EXP)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (ISO)
acetamide  (ISO)
aldrin  (EXP)
all-trans-retinoic acid  (EXP,ISO)
allyl isothiocyanate  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzoates  (EXP)
beta-carotene  (ISO)
beta-hexachlorocyclohexane  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
bromobenzene  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calciol  (ISO)
captan  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chondroitin sulfate  (EXP)
chromium(6+)  (ISO)
cisplatin  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (ISO)
crocidolite asbestos  (EXP)
curcumin  (EXP,ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
DDD  (EXP)
DDE  (EXP)
DDT  (EXP)
dermatan sulfate  (EXP)
desferrioxamine B  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
dieldrin  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
disodium selenite  (ISO)
disulfiram  (EXP)
doxorubicin  (EXP)
emodin  (ISO)
endrin  (EXP)
entinostat  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
fomepizole  (ISO)
furan  (ISO)
furosemide  (ISO)
gamma-hexachlorocyclohexane  (EXP)
genistein  (EXP,ISO)
glutathione  (EXP)
GW 4064  (ISO)
hemin  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP)
indometacin  (ISO)
isotretinoin  (EXP)
L-ascorbic acid  (ISO)
L-cysteine  (ISO)
L-methionine  (ISO)
lercanidipine  (ISO)
leukotriene D4  (EXP)
lipopolysaccharide  (ISO)
lipoxin A4  (EXP)
losartan  (ISO)
masitinib  (EXP)
melittin  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
mifepristone  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
nicotine  (EXP,ISO)
nitrofen  (ISO)
Nonylphenol  (ISO)
olmesartan  (ISO)
orantinib  (EXP)
oxaliplatin  (ISO)
oxidopamine  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
pentane-2,3-dione  (ISO)
perfluorooctanoic acid  (ISO)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
ponatinib  (EXP)
potassium chromate  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP)
raloxifene  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
Salinomycin  (EXP)
simvastatin  (EXP,ISO)
sodium arsenite  (ISO)
sodium chloride  (EXP)
sorafenib  (EXP,ISO)
sulforaphane  (EXP)
tanespimycin  (EXP,ISO)
temozolomide  (EXP)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
tetramethylpyrazine  (ISO)
tetraphene  (ISO)
tetrathiomolybdate(2-)  (EXP)
thiacloprid  (ISO)
thioacetamide  (ISO)
thiophanate-methyl  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
triphenyl phosphate  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
Y-27632  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)
ziram  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adrenal gland development  (ISO)
aging  (IEA,ISO)
aorta morphogenesis  (ISS)
blood vessel development  (ISO)
cardiac myofibril assembly  (ISS)
cell chemotaxis  (IDA)
cell migration  (IMP)
cell migration involved in coronary angiogenesis  (ISS)
cell migration involved in vasculogenesis  (ISS)
cellular response to hydrogen peroxide  (ISO)
cellular response to platelet-derived growth factor stimulus  (IEA)
embryonic organ development  (ISO)
G protein-coupled receptor signaling pathway  (IEA)
glycosaminoglycan biosynthetic process  (IEA,ISO)
hemopoiesis  (ISO)
in utero embryonic development  (ISO)
inner ear development  (IEA,ISO)
intracellular signal transduction  (ISO)
kidney development  (ISO)
lung growth  (IEA,ISO)
male gonad development  (IEA,ISO)
metanephric comma-shaped body morphogenesis  (IEA)
metanephric glomerular capillary formation  (ISS)
metanephric glomerular mesangial cell proliferation involved in metanephros development  (ISS)
metanephric glomerular mesangium development  (ISO)
metanephric glomerulus morphogenesis  (ISO)
metanephric mesenchymal cell migration  (IEA)
metanephric mesenchyme development  (IEA)
metanephric S-shaped body morphogenesis  (IEA)
negative regulation of apoptotic process  (IEA,ISO)
nitrogen compound metabolic process  (ISO)
peptidyl-tyrosine phosphorylation  (IDA)
phosphatidylinositol metabolic process  (IMP)
phosphatidylinositol-mediated signaling  (IMP)
platelet-derived growth factor receptor signaling pathway  (IDA,ISO)
platelet-derived growth factor receptor-beta signaling pathway  (IMP)
positive regulation of apoptotic process  (IEA,ISO)
positive regulation of calcium ion import  (ISS)
positive regulation of cell migration  (IDA)
positive regulation of cell population proliferation  (IMP,ISO)
positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway  (IDA)
positive regulation of chemotaxis  (ISS)
positive regulation of collagen biosynthetic process  (IEA,ISO)
positive regulation of DNA biosynthetic process  (ISS)
positive regulation of ERK1 and ERK2 cascade  (IMP,ISS)
positive regulation of fibroblast proliferation  (IEA,ISO)
positive regulation of hepatic stellate cell activation  (IEA,ISO)
positive regulation of kinase activity  (IBA)
positive regulation of MAP kinase activity  (ISS)
positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway  (ISS)
positive regulation of mitotic nuclear division  (ISS)
positive regulation of phosphatidylinositol 3-kinase activity  (IDA)
positive regulation of phosphatidylinositol 3-kinase signaling  (ISS)
positive regulation of phospholipase C activity  (IDA)
positive regulation of phosphoprotein phosphatase activity  (IDA)
positive regulation of reactive oxygen species metabolic process  (ISS)
positive regulation of Rho protein signal transduction  (IEA,ISO)
positive regulation of smooth muscle cell migration  (IBA,IMP,ISS)
positive regulation of smooth muscle cell proliferation  (IMP,ISS)
protein autophosphorylation  (IDA)
regulation of actin cytoskeleton organization  (ISS)
regulation of peptidyl-tyrosine phosphorylation  (ISO)
response to ceramide  (ISO)
response to estradiol  (IEA,ISO)
response to estrogen  (IEA,ISO)
response to fluid shear stress  (IEA,ISO)
response to hydrogen peroxide  (IEA,ISO)
response to hyperoxia  (IEA,ISO)
response to lipid  (ISO)
response to organic cyclic compound  (ISO)
response to retinoic acid  (IEA,ISO)
response to toxic substance  (IEA,ISO)
retina vasculature development in camera-type eye  (ISS)
ruffle assembly  (ISO)
signal transduction  (IDA,ISO)
skeletal system morphogenesis  (ISO)
smooth muscle cell chemotaxis  (ISS)
smooth muscle tissue development  (ISO)
tissue homeostasis  (ISO)
transmembrane receptor protein tyrosine kinase signaling pathway  (IBA)
wound healing  (IEA,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal hair morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal sacrum morphology  (IAGP)
Abnormal skull morphology  (IAGP)
Abnormal thorax morphology  (IAGP)
Abnormality of connective tissue  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the metaphysis  (IAGP)
Abnormality of the musculature  (IAGP)
Abnormality of the skin  (IAGP)
Abnormally lax or hyperextensible skin  (IAGP)
Adult onset  (IAGP)
Anxiety  (IAGP)
Athetosis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Basal ganglia calcification  (IAGP)
Benign neoplasm of the central nervous system  (IAGP)
Bone cyst  (IAGP)
Brachydactyly  (IAGP)
Bradykinesia  (IAGP)
Calcification of the small brain vessels  (IAGP)
Cerebral calcification  (IAGP)
Chondrocalcinosis  (IAGP)
Chorea  (IAGP)
Corneal opacity  (IAGP)
Dandy-Walker malformation  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed skeletal maturation  (IAGP)
Dementia  (IAGP)
Dense calcifications in the cerebellar dentate nucleus  (IAGP)
Depression  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysarthria  (IAGP)
Dysdiadochokinesis  (IAGP)
Dystonia  (IAGP)
Elevated circulating thyroid-stimulating hormone concentration  (IAGP)
Eosinophilia  (IAGP)
Fibroma  (IAGP)
Fragile skin  (IAGP)
Gait disturbance  (IAGP)
Gingival fibromatosis  (IAGP)
Growth abnormality  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hepatomegaly  (IAGP)
Hydrocephalus  (IAGP)
Hypercalcemia  (IAGP)
Hyperextensible skin  (IAGP)
Hyperkeratosis  (IAGP)
Hypermetropia  (IAGP)
Hyperreflexia  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Intellectual disability  (IAGP)
Intestinal obstruction  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular hyperpigmentation  (IAGP)
Limb dysmetria  (IAGP)
Limitation of joint mobility  (IAGP)
Lipoatrophy  (IAGP)
Long foot  (IAGP)
Malignant eosinophil proliferation  (IAGP)
Mask-like facies  (IAGP)
Memory impairment  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micrographia  (IAGP)
Midface retrusion  (IAGP)
Migraine  (IAGP)
Myeloproliferative disorder  (IAGP)
Myofibromatosis  (IAGP)
Narrow nose  (IAGP)
Neoplasm of the lung  (IAGP)
Neoplasm of the pancreas  (IAGP)
Neoplasm of the skin  (IAGP)
Nystagmus  (IAGP)
Osteolysis  (IAGP)
Osteolytic defects of the phalanges of the hand  (IAGP)
Osteopenia  (IAGP)
Overgrowth  (IAGP)
Parkinsonism  (IAGP)
Pointed chin  (IAGP)
Postural instability  (IAGP)
Progressive  (IAGP)
Progressive neurologic deterioration  (IAGP)
Prominent forehead  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent supraorbital ridges  (IAGP)
Proptosis  (IAGP)
Psychosis  (IAGP)
Ptosis  (IAGP)
Rigidity  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Skin ulcer  (IAGP)
Slender long bone  (IAGP)
Sparse hair  (IAGP)
Subcutaneous hemorrhage  (IAGP)
Subcutaneous nodule  (IAGP)
Thin calvarium  (IAGP)
Thin skin  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Thoracolumbar scoliosis  (IAGP)
Thrombocytopenia  (IAGP)
Tracheoesophageal fistula  (IAGP)
Tremor  (IAGP)
Urinary incontinence  (IAGP)
Ventriculomegaly  (IAGP)
Wide nasal bridge  (IAGP)
Wormian bones  (IAGP)
References

References - curated
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29. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
30. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
31. RGD automated import pipeline for gene-chemical interactions
32. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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Additional References at PubMed
PMID:1314164   PMID:1330535   PMID:1333047   PMID:1334459   PMID:1372092   PMID:1374684   PMID:1375321   PMID:1385407   PMID:1396585   PMID:1653029   PMID:1661130   PMID:1696179  
PMID:1720539   PMID:1847074   PMID:2157284   PMID:2161888   PMID:2173144   PMID:2475255   PMID:2531695   PMID:2536956   PMID:2542288   PMID:2550144   PMID:2554309   PMID:2835772  
PMID:2846185   PMID:2850496   PMID:3107886   PMID:7520528   PMID:7523122   PMID:7530043   PMID:7531698   PMID:7536927   PMID:7537362   PMID:7545675   PMID:7592796   PMID:7665222  
PMID:7678051   PMID:7679113   PMID:7680644   PMID:7683666   PMID:7685273   PMID:7687537   PMID:7688466   PMID:7689724   PMID:7691811   PMID:7692233   PMID:7693727   PMID:7876130  
PMID:7935391   PMID:8041791   PMID:8119896   PMID:8181064   PMID:8183548   PMID:8195171   PMID:8302579   PMID:8344248   PMID:8382612   PMID:8382774   PMID:8388538   PMID:8443409  
PMID:8538796   PMID:8549654   PMID:8555205   PMID:8564419   PMID:8586421   PMID:8617789   PMID:8647855   PMID:8647858   PMID:8657151   PMID:8670861   PMID:8702949   PMID:8890167  
PMID:8940081   PMID:8943344   PMID:8947043   PMID:9006901   PMID:9057949   PMID:9153411   PMID:9207175   PMID:9285559   PMID:9355745   PMID:9362449   PMID:9373237   PMID:9425276  
PMID:9452499   PMID:9484840   PMID:9492013   PMID:9506992   PMID:9512716   PMID:9737977   PMID:9739761   PMID:9742401   PMID:9797459   PMID:9808151   PMID:9815748   PMID:9819414  
PMID:9920285   PMID:9989826   PMID:10022833   PMID:10026169   PMID:10066366   PMID:10336465   PMID:10391677   PMID:10514377   PMID:10697503   PMID:10733900   PMID:10752619   PMID:10805725  
PMID:10806474   PMID:10806482   PMID:10821867   PMID:10938113   PMID:10964931   PMID:11027258   PMID:11046132   PMID:11172806   PMID:11266449   PMID:11297552   PMID:11331881   PMID:11331882  
PMID:11350938   PMID:11567151   PMID:11710529   PMID:11861293   PMID:11882663   PMID:11896612   PMID:11896619   PMID:11903042   PMID:11919393   PMID:12062403   PMID:12177062   PMID:12381737  
PMID:12477932   PMID:12480944   PMID:12551917   PMID:12614164   PMID:12681492   PMID:12700668   PMID:12706723   PMID:12783862   PMID:12933652   PMID:12941951   PMID:14514732   PMID:14612918  
PMID:14657000   PMID:14705808   PMID:14718524   PMID:14745431   PMID:14871970   PMID:14966296   PMID:14973141   PMID:14996833   PMID:15054045   PMID:15087372   PMID:15146197   PMID:15271984  
PMID:15284236   PMID:15340161   PMID:15377662   PMID:15380338   PMID:15489334   PMID:15504957   PMID:15522237   PMID:15588985   PMID:15630487   PMID:15640155   PMID:15641795   PMID:15665766  
PMID:15763428   PMID:15862965   PMID:15889147   PMID:15902258   PMID:15944146   PMID:15987639   PMID:15994317   PMID:16007172   PMID:16135792   PMID:16149045   PMID:16189514   PMID:16407661  
PMID:16456542   PMID:16477012   PMID:16479011   PMID:16617096   PMID:16640565   PMID:16899864   PMID:17047316   PMID:17082185   PMID:17145809   PMID:17158602   PMID:17229632   PMID:17242191  
PMID:17296564   PMID:17298867   PMID:17301821   PMID:17344284   PMID:17363728   PMID:17403678   PMID:17431412   PMID:17448020   PMID:17462601   PMID:17470632   PMID:17568996   PMID:17584975  
PMID:17599906   PMID:17620338   PMID:17727656   PMID:17785434   PMID:17872908   PMID:17981115   PMID:17991872   PMID:18077793   PMID:18157090   PMID:18193084   PMID:18262053   PMID:18288404  
PMID:18315570   PMID:18326546   PMID:18331602   PMID:18369471   PMID:18483410   PMID:18492696   PMID:18519768   PMID:18524994   PMID:18541413   PMID:18593464   PMID:18621860   PMID:18697203  
PMID:18809244   PMID:18950621   PMID:18997771   PMID:19006078   PMID:19016370   PMID:19028276   PMID:19035305   PMID:19041155   PMID:19074160   PMID:19074885   PMID:19092051   PMID:19115205  
PMID:19167335   PMID:19180499   PMID:19242504   PMID:19275932   PMID:19280218   PMID:19302534   PMID:19333949   PMID:19339244   PMID:19369415   PMID:19377443   PMID:19386600   PMID:19497963  
PMID:19542682   PMID:19582773   PMID:19636022   PMID:19644140   PMID:19696027   PMID:19717644   PMID:19815557   PMID:19839721   PMID:19843560   PMID:19864249   PMID:19913121   PMID:19946888  
PMID:19952113   PMID:19953087   PMID:20103629   PMID:20107158   PMID:20164181   PMID:20197394   PMID:20301334   PMID:20301594   PMID:20377208   PMID:20424473   PMID:20453000   PMID:20505768  
PMID:20510677   PMID:20534510   PMID:20571834   PMID:20577048   PMID:20610572   PMID:20613589   PMID:20624165   PMID:20628086   PMID:20628624   PMID:20637704   PMID:20659339   PMID:20822908  
PMID:20950212   PMID:21074616   PMID:21097719   PMID:21098708   PMID:21118571   PMID:21124835   PMID:21186266   PMID:21245321   PMID:21310211   PMID:21376233   PMID:21409488   PMID:21423176  
PMID:21429937   PMID:21492463   PMID:21536039   PMID:21574155   PMID:21590454   PMID:21679854   PMID:21729646   PMID:21769672   PMID:21769866   PMID:21781317   PMID:21787840   PMID:21868707  
PMID:21873635   PMID:21888769   PMID:21938754   PMID:22159994   PMID:22188481   PMID:22262849   PMID:22331939   PMID:22344267   PMID:22415093   PMID:22541084   PMID:22619173   PMID:22661233  
PMID:22689130   PMID:22697462   PMID:22805337   PMID:22810586   PMID:22865780   PMID:22927028   PMID:22939624   PMID:22974441   PMID:23006663   PMID:23042547   PMID:23063561   PMID:23064464  
PMID:23146028   PMID:23255827   PMID:23376485   PMID:23382862   PMID:23397142   PMID:23567961   PMID:23591770   PMID:23615556   PMID:23620752   PMID:23651497   PMID:23731537   PMID:23731542  
PMID:23748876   PMID:23769926   PMID:23836884   PMID:23860180   PMID:23861540   PMID:23874238   PMID:23922991   PMID:23950591   PMID:24012959   PMID:24022915   PMID:24023874   PMID:24046361  
PMID:24065723   PMID:24086766   PMID:24182907   PMID:24184958   PMID:24243494   PMID:24277456   PMID:24378362   PMID:24524969   PMID:24687085   PMID:24725405   PMID:24733895   PMID:24747001  
PMID:24747080   PMID:24754736   PMID:24758355   PMID:24769756   PMID:24772479   PMID:24796542   PMID:24837198   PMID:24860093   PMID:24885373   PMID:24951465   PMID:24981766   PMID:25007344  
PMID:25088711   PMID:25145436   PMID:25158255   PMID:25164676   PMID:25212438   PMID:25241761   PMID:25257795   PMID:25292412   PMID:25303037   PMID:25391964   PMID:25416956   PMID:25437559  
PMID:25454926   PMID:25502837   PMID:25550804   PMID:25569182   PMID:25686613   PMID:25716320   PMID:25733681   PMID:25744030   PMID:25921289   PMID:25937181   PMID:26129893   PMID:26215891  
PMID:26279204   PMID:26315405   PMID:26403314   PMID:26407747   PMID:26463591   PMID:26483058   PMID:26496610   PMID:26569132   PMID:26599395   PMID:26662677   PMID:26787464   PMID:26857280  
PMID:26872634   PMID:26881541   PMID:27048651   PMID:27127135   PMID:27128408   PMID:27248825   PMID:27259262   PMID:27402080   PMID:27506406   PMID:27507215   PMID:27556512   PMID:27573554  
PMID:27638178   PMID:27764516   PMID:27776010   PMID:27881889   PMID:27931046   PMID:27980069   PMID:27989785   PMID:28065597   PMID:28162874   PMID:28183292   PMID:28209946   PMID:28233816  
PMID:28267575   PMID:28286173   PMID:28298627   PMID:28334876   PMID:28393601   PMID:28417142   PMID:28423550   PMID:28424212   PMID:28487975   PMID:28505006   PMID:28514442   PMID:28552906  
PMID:28555080   PMID:28711648   PMID:28725989   PMID:28751768   PMID:28849154   PMID:28951244   PMID:28975979   PMID:29039032   PMID:29133777   PMID:29158445   PMID:29180619   PMID:29226947  
PMID:29288770   PMID:29303447   PMID:29380207   PMID:29431243   PMID:29434033   PMID:29454091   PMID:29498405   PMID:29507755   PMID:29545370   PMID:29567772   PMID:29944170   PMID:29953970  
PMID:30015847   PMID:30121753   PMID:30335500   PMID:30573803   PMID:30607019   PMID:30636077   PMID:30777101   PMID:30841447   PMID:30894277   PMID:30898150   PMID:30948266   PMID:30970237  
PMID:30979360   PMID:31031011   PMID:31036530   PMID:31287804   PMID:31316208   PMID:31340157   PMID:31523178   PMID:31566039   PMID:31585087   PMID:32050038   PMID:32291752   PMID:32296183  
PMID:32561481   PMID:32732288   PMID:32756477   PMID:32814053   PMID:33040798   PMID:33301597   PMID:33683022   PMID:34144039  


Genomics

Comparative Map Data
PDGFRB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5150,113,839 - 150,155,872 (-)EnsemblGRCh38hg38GRCh38
GRCh385150,113,839 - 150,155,845 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375149,493,402 - 149,535,408 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365149,473,595 - 149,515,615 (-)NCBINCBI36hg18NCBI36
Build 345149,473,595 - 149,515,503NCBI
Celera5145,574,776 - 145,616,798 (-)NCBI
Cytogenetic Map5q32NCBI
HuRef5144,641,381 - 144,683,476 (-)NCBIHuRef
CHM1_15148,925,983 - 148,968,003 (-)NCBICHM1_1
Pdgfrb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391861,178,194 - 61,218,139 (+)NCBIGRCm39mm39
GRCm39 Ensembl1861,178,222 - 61,218,133 (+)Ensembl
GRCm381861,045,127 - 61,085,067 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1861,045,150 - 61,085,061 (+)EnsemblGRCm38mm10GRCm38
MGSCv371861,204,804 - 61,244,721 (+)NCBIGRCm37mm9NCBIm37
MGSCv361861,170,810 - 61,210,428 (+)NCBImm8
Celera1862,332,161 - 62,372,066 (+)NCBICelera
Cytogenetic Map18E1NCBI
cM Map1834.41NCBI
Pdgfrb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21854,500,002 - 54,538,843 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1854,499,964 - 54,538,843 (+)Ensembl
Rnor_6.01856,364,586 - 56,406,381 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1856,364,620 - 56,406,381 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01855,596,682 - 55,637,692 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41857,014,475 - 57,053,581 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11857,086,706 - 57,125,813 (+)NCBI
Celera1852,652,411 - 52,691,218 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
Pdgfrb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554154,365,743 - 4,403,587 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554154,365,848 - 4,403,317 (+)NCBIChiLan1.0ChiLan1.0
PDGFRB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15151,543,581 - 151,585,630 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5151,543,891 - 151,585,530 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v05145,538,330 - 145,580,312 (-)NCBIMhudiblu_PPA_v0panPan3
PDGFRB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1458,925,922 - 58,963,639 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl458,926,351 - 58,962,283 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha458,692,327 - 58,728,259 (+)NCBI
ROS_Cfam_1.0459,406,388 - 59,444,135 (+)NCBI
UMICH_Zoey_3.1459,195,608 - 59,231,543 (+)NCBI
UNSW_CanFamBas_1.0459,310,188 - 59,346,130 (+)NCBI
UU_Cfam_GSD_1.0459,841,270 - 59,877,207 (+)NCBI
Pdgfrb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213143,188,255 - 143,225,815 (+)NCBI
SpeTri2.0NW_0049365044,762,251 - 4,799,789 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDGFRB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2151,155,754 - 151,192,647 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12151,155,753 - 151,192,818 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22158,113,430 - 158,121,798 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PDGFRB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12352,724,061 - 52,766,264 (-)NCBI
ChlSab1.1 Ensembl2352,724,005 - 52,766,234 (-)Ensembl
Vero_WHO_p1.0NW_02366603424,950,813 - 24,993,042 (+)NCBI
Pdgfrb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247749,432,765 - 9,469,690 (-)NCBI

Position Markers
RH69916  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,493,481 - 149,493,582UniSTSGRCh37
Build 365149,473,674 - 149,473,775RGDNCBI36
Celera5145,574,855 - 145,574,956RGD
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q33.1UniSTS
HuRef5144,641,460 - 144,641,561UniSTS
GeneMap99-GB4 RH Map5583.24UniSTS
NCBI RH Map5891.6UniSTS
PDGFRB_1343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,493,393 - 149,494,280UniSTSGRCh37
Build 365149,473,586 - 149,474,473RGDNCBI36
Celera5145,574,767 - 145,575,654RGD
HuRef5144,641,372 - 144,642,259UniSTS
WI-18300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,493,868 - 149,493,997UniSTSGRCh37
Build 365149,474,061 - 149,474,190RGDNCBI36
Celera5145,575,242 - 145,575,371RGD
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q33.1UniSTS
HuRef5144,641,847 - 144,641,976UniSTS
GeneMap99-GB4 RH Map5576.76UniSTS
Whitehead-RH Map5494.4UniSTS
D5S2862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,495,142 - 149,495,309UniSTSGRCh37
Build 365149,475,335 - 149,475,502RGDNCBI36
Celera5145,576,516 - 145,576,683RGD
Cytogenetic Map5q33.1UniSTS
HuRef5144,643,121 - 144,643,288UniSTS
WI-18889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,494,296 - 149,494,421UniSTSGRCh37
Build 365149,474,489 - 149,474,614RGDNCBI36
Celera5145,575,670 - 145,575,795RGD
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q33.1UniSTS
HuRef5144,642,275 - 144,642,400UniSTS
GeneMap99-GB4 RH Map345.2UniSTS
Whitehead-RH Map345.2UniSTS
D5S2602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,493,619 - 149,493,802UniSTSGRCh37
Build 365149,473,812 - 149,473,995RGDNCBI36
Celera5145,574,993 - 145,575,176RGD
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q33.1UniSTS
HuRef5144,641,598 - 144,641,781UniSTS
GeneMap99-G3 RH Map55554.0UniSTS
RH11092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,499,031 - 149,499,144UniSTSGRCh37
Build 365149,479,224 - 149,479,337RGDNCBI36
Celera5145,580,407 - 145,580,520RGD
Cytogenetic Map5q33.1UniSTS
HuRef5144,647,011 - 144,647,124UniSTS
GeneMap99-GB4 RH Map5579.1UniSTS
NCBI RH Map5891.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4075
Count of miRNA genes:1239
Interacting mature miRNAs:1594
Transcripts:ENST00000261799, ENST00000517488, ENST00000517957, ENST00000519575, ENST00000520229, ENST00000520579, ENST00000520851, ENST00000521723, ENST00000522466
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2259 2235 1421 350 558 190 4155 2152 2972 321 1315 1412 165 1 1204 2782 3
Low 97 513 296 270 951 268 153 31 761 81 72 71 3 6 3 2
Below cutoff 65 239 6 3 371 4 32 10 1 9 58 69 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001355016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001355017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_149150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI346188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN268096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT626076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M21616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M30493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U33172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261799   ⟹   ENSP00000261799
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5150,113,839 - 150,155,845 (-)Ensembl
RefSeq Acc Id: ENST00000517488   ⟹   ENSP00000429218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5150,134,750 - 150,155,627 (-)Ensembl
RefSeq Acc Id: ENST00000517660
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5150,137,304 - 150,155,860 (-)Ensembl
RefSeq Acc Id: ENST00000517957   ⟹   ENSP00000430715
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5150,134,857 - 150,137,437 (-)Ensembl
RefSeq Acc Id: ENST00000519575
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5150,119,467 - 150,122,202 (-)Ensembl
RefSeq Acc Id: ENST00000520229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5150,124,170 - 150,125,520 (-)Ensembl
RefSeq Acc Id: ENST00000520579   ⟹   ENSP00000430026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5150,115,727 - 150,155,859 (-)Ensembl
RefSeq Acc Id: ENST00000520851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5150,113,842 - 150,114,958 (-)Ensembl
RefSeq Acc Id: ENST00000521723
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5150,120,927 - 150,122,237 (-)Ensembl
RefSeq Acc Id: ENST00000522466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5150,133,695 - 150,134,110 (-)Ensembl
RefSeq Acc Id: ENST00000523456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5150,153,411 - 150,155,872 (-)Ensembl
RefSeq Acc Id: NM_001355016   ⟹   NP_001341945
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,113,839 - 150,155,845 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001355017   ⟹   NP_001341946
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,113,839 - 150,155,845 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002609   ⟹   NP_002600
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,113,839 - 150,155,845 (-)NCBI
GRCh375149,493,402 - 149,535,447 (-)NCBI
Build 365149,473,595 - 149,515,615 (-)NCBI Archive
HuRef5144,641,381 - 144,683,476 (-)ENTREZGENE
CHM1_15148,925,983 - 148,968,003 (-)NCBI
Sequence:
RefSeq Acc Id: NR_149150
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,152,339 - 150,155,845 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002600   ⟸   NM_002609
- Peptide Label: isoform 1 precursor
- UniProtKB: P09619 (UniProtKB/Swiss-Prot),   Q59F04 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341945   ⟸   NM_001355016
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001341946   ⟸   NM_001355017
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: ENSP00000429218   ⟸   ENST00000517488
RefSeq Acc Id: ENSP00000430715   ⟸   ENST00000517957
RefSeq Acc Id: ENSP00000430026   ⟸   ENST00000520579
RefSeq Acc Id: ENSP00000261799   ⟸   ENST00000261799
Protein Domains
Ig-like   Ig-like C2-type   Protein kinase

Promoters
RGD ID:6871242
Promoter ID:EPDNEW_H8786
Type:initiation region
Name:PDGFRB_1
Description:platelet derived growth factor receptor beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,155,845 - 150,155,905EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000525984]|not provided [RCV001565252] Chr5:150117636 [GRCh38]
Chr5:149497199 [GRCh37]
Chr5:5q32
benign|likely benign
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000547910]|not provided [RCV001552896] Chr5:150129883 [GRCh38]
Chr5:149509446 [GRCh37]
Chr5:5q32
benign|likely benign
NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000551534] Chr5:150120094 [GRCh38]
Chr5:149499657 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.2269A>G (p.Met757Val) single nucleotide variant not provided [RCV000520916] Chr5:150121955 [GRCh38]
Chr5:149501518 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.164C>T (p.Ser55Leu) single nucleotide variant not provided [RCV000523080] Chr5:150135755 [GRCh38]
Chr5:149515318 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.1973T>C (p.Leu658Pro) single nucleotide variant Basal ganglia calcification, idiopathic, 4 [RCV000032788] Chr5:150124300 [GRCh38]
Chr5:149503863 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp) single nucleotide variant Basal ganglia calcification, idiopathic, 4 [RCV000032789] Chr5:150117796 [GRCh38]
Chr5:149497359 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr) single nucleotide variant Infantile myofibromatosis 1 [RCV000049265] Chr5:150124295 [GRCh38]
Chr5:149503858 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) single nucleotide variant Basal ganglia calcification, idiopathic, 4 [RCV001197225]|Infantile myofibromatosis 1 [RCV000049264]|Infantile myofibromatosis [RCV000454370]|Premature aging syndrome, Penttinen type [RCV001201357]|not provided [RCV000390507] Chr5:150125571 [GRCh38]
Chr5:149505134 [GRCh37]
Chr5:5q32
pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
NM_002609.3(PDGFRB):c.3292C>T (p.Arg1098Trp) single nucleotide variant Malignant melanoma [RCV000066775] Chr5:150115792 [GRCh38]
Chr5:149495355 [GRCh37]
Chr5:149475548 [NCBI36]
Chr5:5q32
not provided
NM_002609.4(PDGFRB):c.683G>A (p.Gly228Asp) single nucleotide variant not specified [RCV000171387] Chr5:150133957 [GRCh38]
Chr5:149513520 [GRCh37]
Chr5:5q32
likely pathogenic|likely benign
NM_002609.4(PDGFRB):c.1996A>C (p.Asn666His) single nucleotide variant Inborn genetic diseases [RCV000190709] Chr5:150124277 [GRCh38]
Chr5:149503840 [GRCh37]
Chr5:5q32
likely pathogenic
NM_002609.4(PDGFRB):c.3138-91A>G single nucleotide variant not provided [RCV001545435] Chr5:150116037 [GRCh38]
Chr5:149495600 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys) single nucleotide variant Basal ganglia calcification, idiopathic, 4 [RCV000128554]|not provided [RCV001560202] Chr5:150123142 [GRCh38]
Chr5:149502705 [GRCh37]
Chr5:5q32
likely pathogenic
NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His) single nucleotide variant not provided [RCV000174877] Chr5:150123099 [GRCh38]
Chr5:149502662 [GRCh37]
Chr5:5q32
uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
NM_002609.4(PDGFRB):c.1751C>G (p.Pro584Arg) single nucleotide variant Kosaki overgrowth syndrome [RCV000200957]|Myeloproliferative disorder, chronic, with eosinophilia [RCV001335958] Chr5:150125501 [GRCh38]
Chr5:149505064 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) single nucleotide variant Infantile myofibromatosis 1 [RCV000203292]|Infantile myofibromatosis [RCV000454371] Chr5:150124275 [GRCh38]
Chr5:149503838 [GRCh37]
Chr5:5q32
pathogenic|likely pathogenic
NM_002609.4(PDGFRB):c.2137G>A (p.Ala713Thr) single nucleotide variant not specified [RCV000238828] Chr5:150123088 [GRCh38]
Chr5:149502651 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.2938A>C (p.Ser980Arg) single nucleotide variant not specified [RCV000239016] Chr5:150117817 [GRCh38]
Chr5:149497380 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000551181]|not provided [RCV001573749]|not specified [RCV000246485] Chr5:150135834 [GRCh38]
Chr5:149515397 [GRCh37]
Chr5:5q32
benign|likely benign
NM_002609.4(PDGFRB):c.3137+4A>G single nucleotide variant Premature aging syndrome, Penttinen type [RCV001517684]|not specified [RCV000251507] Chr5:150117614 [GRCh38]
Chr5:149497177 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001517683]|not specified [RCV000241889] Chr5:150115832 [GRCh38]
Chr5:149495395 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001517685]|not provided [RCV001541442]|not specified [RCV000242001] Chr5:150120109 [GRCh38]
Chr5:149499672 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001515545]|not specified [RCV000246961] Chr5:150117665 [GRCh38]
Chr5:149497228 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001079189]|not provided [RCV000514246]|not specified [RCV000335817] Chr5:150132931 [GRCh38]
Chr5:149512494 [GRCh37]
Chr5:5q32
benign|likely benign
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000650692]|not provided [RCV001579776]|not specified [RCV000337800] Chr5:150120951 [GRCh38]
Chr5:149500514 [GRCh37]
Chr5:5q32
benign|likely benign
NM_002609.4(PDGFRB):c.2463C>T (p.Asn821=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001514222]|not provided [RCV000945581]|not specified [RCV000280151] Chr5:150121204 [GRCh38]
Chr5:149500767 [GRCh37]
Chr5:5q32
benign
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_002609.4(PDGFRB):c.1675-293G>A single nucleotide variant not provided [RCV001566115] Chr5:150125870 [GRCh38]
Chr5:149505433 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000526323]|not provided [RCV001579380] Chr5:150129831 [GRCh38]
Chr5:149509394 [GRCh37]
Chr5:5q32
benign|likely benign
NM_002609.4(PDGFRB):c.766C>T (p.Arg256Trp) single nucleotide variant not provided [RCV000523885] Chr5:150133754 [GRCh38]
Chr5:149513317 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.1572G>A (p.Val524=) single nucleotide variant not provided [RCV000592326] Chr5:150129764 [GRCh38]
Chr5:149509327 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.1994T>C (p.Val665Ala) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000585893] Chr5:150124279 [GRCh38]
Chr5:149503842 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.1574C>T (p.Pro525Leu) single nucleotide variant not provided [RCV001579409] Chr5:150129762 [GRCh38]
Chr5:149509325 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.365-4G>T single nucleotide variant Premature aging syndrome, Penttinen type [RCV000540845] Chr5:150135020 [GRCh38]
Chr5:149514583 [GRCh37]
Chr5:5q32
benign
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) single nucleotide variant Basal ganglia calcification, idiopathic, 4 [RCV001199248]|Premature aging syndrome, Penttinen type [RCV001084340]|not provided [RCV000420025] Chr5:150132844 [GRCh38]
Chr5:149512407 [GRCh37]
Chr5:5q32
benign|likely benign
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) single nucleotide variant Dandy-Walker syndrome [RCV001257994]|Inborn genetic diseases [RCV000622279]|Infantile myofibromatosis 1 [RCV000779640]|Infantile myofibromatosis [RCV000454367]|Kosaki overgrowth syndrome [RCV001541889]|not provided [RCV000497546] Chr5:150125556 [GRCh38]
Chr5:149505119 [GRCh37]
Chr5:5q32
pathogenic|likely pathogenic|uncertain significance
NM_002609.4(PDGFRB):c.1615_1616insGAT (p.Leu539_Ala540insArg) insertion Infantile myofibromatosis [RCV000454368] Chr5:150126578..150126579 [GRCh38]
Chr5:149506141..149506142 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.2549A>T (p.Asp850Val) single nucleotide variant Infantile myofibromatosis [RCV000454369] Chr5:150120925 [GRCh38]
Chr5:149500488 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.1998C>G (p.Asn666Lys) single nucleotide variant Infantile myofibromatosis [RCV000454372] Chr5:150124275 [GRCh38]
Chr5:149503838 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.1697_1702del (p.Trp566_Val568delinsLeu) deletion Infantile myofibromatosis [RCV000454373] Chr5:150125550..150125555 [GRCh38]
Chr5:149505113..149505118 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile) single nucleotide variant not provided [RCV000480759] Chr5:150119560 [GRCh38]
Chr5:149499123 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.1699A>G (p.Lys567Glu) single nucleotide variant Infantile myofibromatosis 1 [RCV000498591] Chr5:150125553 [GRCh38]
Chr5:149505116 [GRCh37]
Chr5:5q32
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV001381154]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000538137]|not provided [RCV001573918] Chr5:150129945 [GRCh38]
Chr5:149509508 [GRCh37]
Chr5:5q32
benign|likely benign
NM_002609.4(PDGFRB):c.102C>T (p.Val34=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000534511] Chr5:150135817 [GRCh38]
Chr5:149515380 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.3241G>A (p.Glu1081Lys) single nucleotide variant Basal ganglia calcification, idiopathic, 4 [RCV001198145]|Parkinsonism [RCV000626825] Chr5:150115843 [GRCh38]
Chr5:149495406 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000536633]|not specified [RCV001579846] Chr5:150124785 [GRCh38]
Chr5:149504348 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000559689]|not provided [RCV001550038] Chr5:150132073 [GRCh38]
Chr5:149511636 [GRCh37]
Chr5:5q32
benign|likely benign
NM_002609.4(PDGFRB):c.2023+5C>T single nucleotide variant Infantile myofibromatosis 1 [RCV000650690] Chr5:150124245 [GRCh38]
Chr5:149503808 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000650691] Chr5:150129864 [GRCh38]
Chr5:149509427 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000650693]|not provided [RCV001579791] Chr5:150118807 [GRCh38]
Chr5:149498370 [GRCh37]
Chr5:5q32
benign|likely benign
NM_002609.4(PDGFRB):c.1761G>A (p.Leu587=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000650694] Chr5:150125491 [GRCh38]
Chr5:149505054 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.2362C>T (p.Arg788Ter) single nucleotide variant Inborn genetic diseases [RCV000624900] Chr5:150121305 [GRCh38]
Chr5:149500868 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.1330C>G (p.Pro444Ala) single nucleotide variant not provided [RCV000658217] Chr5:150130576 [GRCh38]
Chr5:149510139 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.631+2T>C single nucleotide variant not provided [RCV000659034] Chr5:150134748 [GRCh38]
Chr5:149514311 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys) single nucleotide variant Infantile myofibromatosis 1 [RCV000707161] Chr5:150134897 [GRCh38]
Chr5:149514460 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000704920] Chr5:150132005 [GRCh38]
Chr5:149511568 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn) single nucleotide variant Infantile myofibromatosis 1 [RCV000699136] Chr5:150117816 [GRCh38]
Chr5:149497379 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe) single nucleotide variant Infantile myofibromatosis 1 [RCV000705837] Chr5:150130560 [GRCh38]
Chr5:149510123 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.2464-3C>T single nucleotide variant Infantile myofibromatosis 1 [RCV000694206] Chr5:150121013 [GRCh38]
Chr5:149500576 [GRCh37]
Chr5:5q32
uncertain significance
NC_000005.9:g.(?_149503793)_(149516630_?)dup duplication Infantile myofibromatosis 1 [RCV000708462] Chr5:150124230..150137067 [GRCh38]
Chr5:149503793..149516630 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.2904+87G>A single nucleotide variant not provided [RCV001547125] Chr5:150118660 [GRCh38]
Chr5:149498223 [GRCh37]
Chr5:5q32
likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
Single allele complex Imatinib response [RCV000853070] Chr5:149502629..149505080 [GRCh37]
Chr5:5q32
drug response
NM_002609.4(PDGFRB):c.1128-202T>C single nucleotide variant not provided [RCV001551607] Chr5:150132296 [GRCh38]
Chr5:149511859 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.3137+72_3137+77del deletion not provided [RCV001570327] Chr5:150117541..150117546 [GRCh38]
Chr5:149497104..149497109 [GRCh37]
Chr5:5q32
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_002609.4(PDGFRB):c.2268C>T (p.Asp756=) single nucleotide variant not provided [RCV000998472] Chr5:150121956 [GRCh38]
Chr5:149501519 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000883687] Chr5:150124821 [GRCh38]
Chr5:149504384 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1376G>A (p.Arg459His) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000878783] Chr5:150129960 [GRCh38]
Chr5:149509523 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000878806]|not provided [RCV001573941] Chr5:150134800 [GRCh38]
Chr5:149514363 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1884G>A (p.Thr628=) single nucleotide variant not provided [RCV000945906] Chr5:150124755 [GRCh38]
Chr5:149504318 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2172C>T (p.Leu724=) single nucleotide variant not provided [RCV000903418] Chr5:150123053 [GRCh38]
Chr5:149502616 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.657C>T (p.Asn219=) single nucleotide variant not provided [RCV000946174] Chr5:150133983 [GRCh38]
Chr5:149513546 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1243+4A>T single nucleotide variant not provided [RCV000879399] Chr5:150131975 [GRCh38]
Chr5:149511538 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000964660] Chr5:150117783 [GRCh38]
Chr5:149497346 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2919G>A (p.Val973=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000967872] Chr5:150117836 [GRCh38]
Chr5:149497399 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.438C>A (p.Thr146=) single nucleotide variant not provided [RCV000906327] Chr5:150134943 [GRCh38]
Chr5:149514506 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) single nucleotide variant Infantile myofibromatosis 1 [RCV000987618]|Premature aging syndrome, Penttinen type [RCV000878003]|not provided [RCV001573574] Chr5:150115797 [GRCh38]
Chr5:149495360 [GRCh37]
Chr5:5q32
benign|likely benign
NM_002609.4(PDGFRB):c.1872T>C (p.His624=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000946027] Chr5:150124767 [GRCh38]
Chr5:149504330 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.396C>T (p.Ala132=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001458226]|not provided [RCV000898328] Chr5:150134985 [GRCh38]
Chr5:149514548 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000878166] Chr5:150120972 [GRCh38]
Chr5:149500535 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.2148C>T (p.Tyr716=) single nucleotide variant not provided [RCV000915679] Chr5:150123077 [GRCh38]
Chr5:149502640 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2164G>T (p.Val722Phe) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000949157] Chr5:150123061 [GRCh38]
Chr5:149502624 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.2889C>T (p.Gly963=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000950900] Chr5:150118762 [GRCh38]
Chr5:149498325 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000946344] Chr5:150115814 [GRCh38]
Chr5:149495377 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.714C>T (p.Ile238=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000949206] Chr5:150133926 [GRCh38]
Chr5:149513489 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.1579+10C>T single nucleotide variant Premature aging syndrome, Penttinen type [RCV000878029] Chr5:150129747 [GRCh38]
Chr5:149509310 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000878451] Chr5:150129832 [GRCh38]
Chr5:149509395 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000884771] Chr5:150120055 [GRCh38]
Chr5:149499618 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000884793] Chr5:150117722 [GRCh38]
Chr5:149497285 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000884794]|not provided [RCV001579654] Chr5:150117758 [GRCh38]
Chr5:149497321 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1971C>T (p.His657=) single nucleotide variant not provided [RCV000945443] Chr5:150124302 [GRCh38]
Chr5:149503865 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.330C>T (p.Thr110=) single nucleotide variant not provided [RCV000902829] Chr5:150135589 [GRCh38]
Chr5:149515152 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1563C>T (p.Val521=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001414051]|not provided [RCV000944720] Chr5:150129773 [GRCh38]
Chr5:149509336 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000946044] Chr5:150132758 [GRCh38]
Chr5:149512321 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000946024] Chr5:150115880 [GRCh38]
Chr5:149495443 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000908781] Chr5:150117795 [GRCh38]
Chr5:149497358 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.936G>A (p.Glu312=) single nucleotide variant not provided [RCV000927175] Chr5:150132941 [GRCh38]
Chr5:149512504 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2365G>T (p.Ala789Ser) single nucleotide variant not provided [RCV000949163] Chr5:150121302 [GRCh38]
Chr5:149500865 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000951616] Chr5:150129797 [GRCh38]
Chr5:149509360 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.2199C>T (p.Thr733=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001471521]|not provided [RCV000899437] Chr5:150122025 [GRCh38]
Chr5:149501588 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1395G>A (p.Leu465=) single nucleotide variant not provided [RCV000980306] Chr5:150129941 [GRCh38]
Chr5:149509504 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.3297G>A (p.Ala1099=) single nucleotide variant not provided [RCV000924831] Chr5:150115787 [GRCh38]
Chr5:149495350 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2058C>T (p.Tyr686=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001430969]|not provided [RCV000914215] Chr5:150123167 [GRCh38]
Chr5:149502730 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000821126] Chr5:150129886 [GRCh38]
Chr5:149509449 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.1686C>T (p.Tyr562=) single nucleotide variant not provided [RCV000915865] Chr5:150125566 [GRCh38]
Chr5:149505129 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000792736] Chr5:150132940 [GRCh38]
Chr5:149512503 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000813317] Chr5:150125475 [GRCh38]
Chr5:149505038 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.141C>T (p.Ser47=) single nucleotide variant not provided [RCV000998473] Chr5:150135778 [GRCh38]
Chr5:149515341 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1035G>A (p.Pro345=) single nucleotide variant not provided [RCV000892287] Chr5:150132842 [GRCh38]
Chr5:149512405 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001231305] Chr5:150118779 [GRCh38]
Chr5:149498342 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001247392] Chr5:150135585 [GRCh38]
Chr5:149515148 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001223591] Chr5:150135743 [GRCh38]
Chr5:149515306 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.2402T>C (p.Met801Thr) single nucleotide variant Basal ganglia calcification, idiopathic, 4 [RCV001199152] Chr5:150121265 [GRCh38]
Chr5:149500828 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.1114G>A (p.Val372Met) single nucleotide variant not provided [RCV001550215] Chr5:150132763 [GRCh38]
Chr5:149512326 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1912+32G>A single nucleotide variant not provided [RCV001564590] Chr5:150124695 [GRCh38]
Chr5:149504258 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.3137+76C>T single nucleotide variant not provided [RCV001551756] Chr5:150117542 [GRCh38]
Chr5:149497105 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1126C>T (p.Arg376Trp) single nucleotide variant not provided [RCV001567982] Chr5:150132751 [GRCh38]
Chr5:149512314 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.935-131A>C single nucleotide variant not provided [RCV001556415] Chr5:150133073 [GRCh38]
Chr5:149512636 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1808-177C>T single nucleotide variant not provided [RCV001550966] Chr5:150125008 [GRCh38]
Chr5:149504571 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.3137+70_3137+83del deletion not provided [RCV001556830] Chr5:150117535..150117548 [GRCh38]
Chr5:149497098..149497111 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.255C>T (p.Leu85=) single nucleotide variant not provided [RCV001580011] Chr5:150135664 [GRCh38]
Chr5:149515227 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.40+194T>G single nucleotide variant not provided [RCV001558179] Chr5:150136814 [GRCh38]
Chr5:149516377 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.*39C>G single nucleotide variant not provided [RCV001540738] Chr5:150115724 [GRCh38]
Chr5:149495287 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.1808-48del deletion not provided [RCV001575714] Chr5:150124879 [GRCh38]
Chr5:149504442 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.3138-115C>T single nucleotide variant not provided [RCV001578176] Chr5:150116061 [GRCh38]
Chr5:149495624 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.899A>G (p.His300Arg) single nucleotide variant not provided [RCV001573973] Chr5:150133621 [GRCh38]
Chr5:149513184 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1223C>G (p.Ser408Cys) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000878292] Chr5:150131999 [GRCh38]
Chr5:149511562 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000954348] Chr5:150129899 [GRCh38]
Chr5:149509462 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000878782] Chr5:150129943 [GRCh38]
Chr5:149509506 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.18G>A (p.Ala6=) single nucleotide variant not provided [RCV000931750] Chr5:150137030 [GRCh38]
Chr5:149516593 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.858G>A (p.Ser286=) single nucleotide variant not provided [RCV000916486] Chr5:150133662 [GRCh38]
Chr5:149513225 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.783G>A (p.Val261=) single nucleotide variant not provided [RCV000886698] Chr5:150133737 [GRCh38]
Chr5:149513300 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000951783]|not provided [RCV001579595] Chr5:150135656 [GRCh38]
Chr5:149515219 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000951786] Chr5:150129782 [GRCh38]
Chr5:149509345 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000951793] Chr5:150132769 [GRCh38]
Chr5:149512332 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001471909]|not provided [RCV000945324] Chr5:150130627 [GRCh38]
Chr5:149510190 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000952399] Chr5:150132932 [GRCh38]
Chr5:149512495 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.12G>A (p.Pro4=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000952400] Chr5:150137036 [GRCh38]
Chr5:149516599 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000952084] Chr5:150134791 [GRCh38]
Chr5:149514354 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.2520C>T (p.Val840=) single nucleotide variant not provided [RCV000887543] Chr5:150120954 [GRCh38]
Chr5:149500517 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1244-4G>A single nucleotide variant Premature aging syndrome, Penttinen type [RCV001413614]|not provided [RCV000980701] Chr5:150130666 [GRCh38]
Chr5:149510229 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001407780]|not provided [RCV000887649] Chr5:150121008 [GRCh38]
Chr5:149500571 [GRCh37]
Chr5:5q32
likely benign|conflicting interpretations of pathogenicity
NM_002609.4(PDGFRB):c.1682_1684del (p.Arg561_Tyr562delinsHis) deletion Infantile myofibromatosis [RCV001249588] Chr5:150125568..150125570 [GRCh38]
Chr5:149505131..149505133 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.1519_1520insTACTGTCGGTGC (p.Arg507_Cys508insLeuLeuSerVal) insertion Infantile myofibromatosis [RCV001249586] Chr5:150129816..150129817 [GRCh38]
Chr5:149509379..149509380 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001231790] Chr5:150121007 [GRCh38]
Chr5:149500570 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001227662] Chr5:150135004 [GRCh38]
Chr5:149514567 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.726G>C (p.Val242=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000911557] Chr5:150133914 [GRCh38]
Chr5:149513477 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV000912250] Chr5:150121986 [GRCh38]
Chr5:149501549 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.934+132C>T single nucleotide variant not provided [RCV001558655] Chr5:150133454 [GRCh38]
Chr5:149513017 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2024-74C>G single nucleotide variant not provided [RCV001555202] Chr5:150123275 [GRCh38]
Chr5:149502838 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1579+230C>T single nucleotide variant not provided [RCV001546280] Chr5:150129527 [GRCh38]
Chr5:149509090 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2183+122G>T single nucleotide variant not provided [RCV001546487] Chr5:150122920 [GRCh38]
Chr5:149502483 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1367+56G>T single nucleotide variant not provided [RCV001561352] Chr5:150130483 [GRCh38]
Chr5:149510046 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1912+48G>T single nucleotide variant not provided [RCV001540954] Chr5:150124679 [GRCh38]
Chr5:149504242 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.*39C>A single nucleotide variant not provided [RCV001537449] Chr5:150115724 [GRCh38]
Chr5:149495287 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.1378G>A (p.Glu460Lys) single nucleotide variant Microcephaly [RCV001252927] Chr5:150129958 [GRCh38]
Chr5:149509521 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001070780] Chr5:150135876 [GRCh38]
Chr5:149515439 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.3137+80C>T single nucleotide variant not provided [RCV001537139] Chr5:150117538 [GRCh38]
Chr5:149497101 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001070641] Chr5:150125486 [GRCh38]
Chr5:149505049 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001219398] Chr5:150120122 [GRCh38]
Chr5:149499685 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.1610C>A (p.Ala537Asp) single nucleotide variant Infantile myofibromatosis [RCV001249591] Chr5:150126584 [GRCh38]
Chr5:149506147 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.1684T>G (p.Tyr562Asp) single nucleotide variant Infantile myofibromatosis [RCV001249589] Chr5:150125568 [GRCh38]
Chr5:149505131 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.1686C>G (p.Tyr562Ter) single nucleotide variant Basal ganglia calcification, idiopathic, 4 [RCV001197899] Chr5:150125566 [GRCh38]
Chr5:149505129 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.1613T>A (p.Ile538Asn) single nucleotide variant Infantile myofibromatosis [RCV001249590] Chr5:150126581 [GRCh38]
Chr5:149506144 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.1716_1717insGAGCTGATCCGATGGAAGGTGATTGAGTCTGTG (p.Ser573_Ser574insGluLeuIleArgTrpLysValIleGluSerVal) microsatellite Infantile myofibromatosis [RCV001249587] Chr5:150125535..150125536 [GRCh38]
Chr5:149505098..149505099 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.*40del deletion not provided [RCV001575613] Chr5:150115723 [GRCh38]
Chr5:149495286 [GRCh37]
Chr5:5q32
likely benign
NC_000005.9:g.(?_149503793)_(149516630_?)dup duplication Infantile myofibromatosis 1 [RCV000708462]|Premature aging syndrome, Penttinen type [RCV001308559] Chr5:149503793..149516630 [GRCh37]
Chr5:5q32
likely pathogenic|uncertain significance
NM_002609.4(PDGFRB):c.3282C>A (p.Cys1094Ter) single nucleotide variant Basal ganglia calcification, idiopathic, 4 [RCV001335959] Chr5:150115802 [GRCh38]
Chr5:149495365 [GRCh37]
Chr5:5q32
pathogenic
NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001302214] Chr5:150125565 [GRCh38]
Chr5:149505128 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.963G>A (p.Glu321=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001396687] Chr5:150132914 [GRCh38]
Chr5:149512477 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2890G>A (p.Glu964Lys) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001308577] Chr5:150118761 [GRCh38]
Chr5:149498324 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.631+1G>A single nucleotide variant Premature aging syndrome, Penttinen type [RCV001316522] Chr5:150134749 [GRCh38]
Chr5:149514312 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.2326G>A (p.Asp776Asn) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001307214] Chr5:150121898 [GRCh38]
Chr5:149501461 [GRCh37]
Chr5:5q32
uncertain significance
NM_002609.4(PDGFRB):c.2874C>T (p.Leu958=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001499759] Chr5:150118777 [GRCh38]
Chr5:149498340 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.2169G>T (p.Gly723=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001456229] Chr5:150123056 [GRCh38]
Chr5:149502619 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1776G>A (p.Thr592=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001405786] Chr5:150125476 [GRCh38]
Chr5:149505039 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.1536C>T (p.Asn512=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001410829] Chr5:150129800 [GRCh38]
Chr5:149509363 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.42C>T (p.Gly14=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001431878] Chr5:150135877 [GRCh38]
Chr5:149515440 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.615T>C (p.Tyr205=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001411835] Chr5:150134766 [GRCh38]
Chr5:149514329 [GRCh37]
Chr5:5q32
likely benign
NM_002609.4(PDGFRB):c.486G>A (p.Glu162=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001516041] Chr5:150134895 [GRCh38]
Chr5:149514458 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.2053C>T (p.Arg685Cys) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001510420] Chr5:150123172 [GRCh38]
Chr5:149502735 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.1083C>T (p.Ser361=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001513570] Chr5:150132794 [GRCh38]
Chr5:149512357 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.3030T>G (p.Thr1010=) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001523159] Chr5:150117725 [GRCh38]
Chr5:149497288 [GRCh37]
Chr5:5q32
benign
NM_002609.4(PDGFRB):c.541G>A (p.Gly181Ser) single nucleotide variant Premature aging syndrome, Penttinen type [RCV001468838] Chr5:150134840 [GRCh38]
Chr5:149514403 [GRCh37]
Chr5:5q32
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8804 AgrOrtholog
COSMIC PDGFRB COSMIC
Ensembl Genes ENSG00000113721 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261799 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429218 UniProtKB/TrEMBL
  ENSP00000430026 UniProtKB/TrEMBL
  ENSP00000430715 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261799 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517488 UniProtKB/TrEMBL
  ENST00000517957 UniProtKB/TrEMBL
  ENST00000520579 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000113721 GTEx
HGNC ID HGNC:8804 ENTREZGENE
Human Proteome Map PDGFRB Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
  Immunoglobulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PGFRB UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_rcpt_3_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5159 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5159 ENTREZGENE
OMIM 131440 OMIM
  173410 OMIM
  228550 OMIM
  601812 OMIM
  615007 OMIM
  616592 OMIM
Pfam I-set UniProtKB/Swiss-Prot
  PF00047 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33148 PharmGKB, RGD
PIRSF Beta-PDGF_receptor UniProtKB/Swiss-Prot
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RECEPTOR_TYR_KIN_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
  TyrKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RH16_HUMAN UniProtKB/TrEMBL
  E5RII0_HUMAN UniProtKB/TrEMBL
  E5RJ14_HUMAN UniProtKB/TrEMBL
  P09619 ENTREZGENE, UniProtKB/Swiss-Prot
  Q59F04 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B5A957 UniProtKB/Swiss-Prot
  Q8N5L4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 PDGFRB  platelet derived growth factor receptor beta    platelet-derived growth factor receptor, beta polypeptide  Symbol and/or name change 5135510 APPROVED
2011-08-16 PDGFRB  platelet-derived growth factor receptor, beta polypeptide  PDGFRB  platelet-derived growth factor receptor, beta polypeptide  Symbol and/or name change 5135510 APPROVED