Gene table of PDGFRB : platelet derived growth factor receptor beta

Gene-disease associations table

Disease IDDisease nameSource of annotation with PDGFRBOMIM linkNumber of associated genesgenes
PS228550INFANTILE MYOFIBROMATOSISClinVar, OMIM, HUMSAVAR link to OMIM 2PDGFRB, NOTCH3
PS213600BASAL GANGLIA CALCIFICATION, IDIOPATHICClinVar, OMIM, HUMSAVAR link to OMIM 4PDGFRB, XPR1, PDGFB, SLC20A2
131440MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIAOMIM link to OMIM 1PDGFRB
601812PREMATURE AGING SYNDROME, PENTTINEN TYPEOMIM link to OMIM 1PDGFRB
616592KOSAKI OVERGROWTH SYNDROMEClinVar, OMIM link to OMIM 1PDGFRB

Download the gene annotation in CSV format

Annotation of the gene PDGFRB

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Melanomahsa052186.56
Gap junctionhsa045406.24
Calcium signaling pathwayhsa040205.22
MicroRNAs in cancerhsa052065.38
Pathways in cancerhsa052003.98
Gliomahsa052146.66
Prostate cancerhsa052156.11
Rap1 signaling pathwayhsa040154.97
Ras signaling pathwayhsa040144.9
Central carbon metabolism in cancerhsa052306.7
Choline metabolism in cancerhsa052316.09
Focal adhesionhsa045104.92
MAPK signaling pathwayhsa040104.63
HTLV-I infectionhsa051664.59
Regulation of actin cytoskeletonhsa048104.9
Cytokine-cytokine receptor interactionhsa040604.67
PI3K-Akt signaling pathwayhsa041514.21
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)R-HSA-24041924.85
Gastrin-CREB signalling pathway via PKC and MAPKR-HSA-8819074.26
NCAM signaling for neurite out-growthR-HSA-3751654.9
PI3K/AKT activationR-HSA-1982036.32
Signaling by InterleukinsR-HSA-4491474.71
PI3K events in ERBB4 signalingR-HSA-12503426.37
Signaling by the B Cell Receptor (BCR)R-HSA-9837054.62
Signaling by LeptinR-HSA-25865525.1
Constitutive Signaling by Aberrant PI3K in CancerR-HSA-22195307.05
PI3K events in ERBB2 signalingR-HSA-19636426.37
Cytokine Signaling in Immune systemR-HSA-12802153.74
IGF1R signaling cascadeR-HSA-24289244.85
Downstream signal transductionR-HSA-1867634.65
GAB1 signalosomeR-HSA-1802926.31
IRS-related events triggered by IGF1RR-HSA-24289284.85
Signaling by ERBB4R-HSA-12363944.7
IRS-mediated signallingR-HSA-1123994.87
MAPK1/MAPK3 signalingR-HSA-56849965.11
Adaptive Immune SystemR-HSA-12802183.19
DiseaseR-HSA-16436853.33
Role of LAT2/NTAL/LAB on calcium mobilizationR-HSA-27309054.95
Downstream signaling of activated FGFR1R-HSA-56546874.71
MAPK family signaling cascadesR-HSA-56830574.89
PIP3 activates AKT signalingR-HSA-12576046.37
PI-3K cascade:FGFR3R-HSA-56547106.37
Signaling by VEGFR-HSA-1941384.66
Signalling to p38 via RIT and RINR-HSA-1877065.12
PI-3K cascade:FGFR1R-HSA-56546896.37
FCERI mediated MAPK activationR-HSA-28717964.32
Signaling by EGFRR-HSA-1779294.59
FRS-mediated FGFR2 signalingR-HSA-56547005.14
SOS-mediated signallingR-HSA-1124125.15
FRS-mediated FGFR3 signalingR-HSA-56547065.14
Developmental BiologyR-HSA-12667383.48
Signaling by Insulin receptorR-HSA-747524.73
Downstream signaling events of B Cell Receptor (BCR)R-HSA-11683725.59
Downstream signaling of activated FGFR3R-HSA-56547084.71
RAF/MAP kinase cascadeR-HSA-56730015.15
Signaling by FGFR4R-HSA-56547434.69
Signaling by FGFR3R-HSA-56547414.69
VEGFA-VEGFR2 PathwayR-HSA-44200974.7
GRB2 events in ERBB2 signalingR-HSA-19636405.15
Interleukin receptor SHC signalingR-HSA-9125265.09
Signaling by FGFRR-HSA-1902364.67
PI3K/AKT Signaling in CancerR-HSA-22195286.56
Diseases of signal transductionR-HSA-56632024.89
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.03
Immune SystemR-HSA-1682562.37
Downstream signaling of activated FGFR4R-HSA-56547164.71
Innate Immune SystemR-HSA-1682493.17
Signaling by SCF-KITR-HSA-14335574.73
Interleukin-2 signalingR-HSA-4519275.05
SHC1 events in ERBB2 signalingR-HSA-12501965.15
Signaling by ERBB2R-HSA-12279864.66
Signalling to RASR-HSA-1670445.08
DAP12 signalingR-HSA-24244914.64
Interleukin-3, 5 and GM-CSF signalingR-HSA-5129884.99
PI-3K cascade:FGFR2R-HSA-56546956.37
Downstream signaling of activated FGFR2R-HSA-56546964.71
Signaling by FGFR1R-HSA-56547364.69
SHC1 events in EGFR signalingR-HSA-1803365.15
NGF signalling via TRKA from the plasma membraneR-HSA-1870374.51
FRS-mediated FGFR1 signalingR-HSA-56546935.14
Prolonged ERK activation eventsR-HSA-1698935.11
FRS-mediated FGFR4 signalingR-HSA-56547125.14
Signalling by NGFR-HSA-1665204.23
Signaling by GPCRR-HSA-3727902.68
Signaling by FGFR2R-HSA-56547384.68
GRB2 events in EGFR signalingR-HSA-1798125.15
Signalling to ERKsR-HSA-1876875.04
Insulin receptor signalling cascadeR-HSA-747514.85
ARMS-mediated activationR-HSA-1709845.12
Frs2-mediated activationR-HSA-1709685.12
PI-3K cascade:FGFR4R-HSA-56547206.37
DAP12 interactionsR-HSA-21721274.56
SHC1 events in ERBB4 signalingR-HSA-12503475.15
Signaling by PDGFR-HSA-1867974.53
Axon guidanceR-HSA-4224753.93
VEGFR2 mediated cell proliferationR-HSA-52189215.07
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
Ras guanyl-nucleotide exchange factor activityGO:00050884.31
signaling receptor activityGO:00380232.49
phosphatidylinositol 3-kinase activityGO:00350045.49
purine ribonucleoside triphosphate bindingGO:00356392.22
platelet-derived growth factor receptor bindingGO:00051617.1
guanyl-nucleotide exchange factor activityGO:00050854.02
heterocyclic compound bindingGO:19013631.06
enzyme bindingGO:00198992.27
molecular transducer activityGO:00600892.32
bindingGO:00054880.18
signal transducer activityGO:00048712.28
molecular function regulatorGO:00987722.51
transmembrane receptor activityGO:00996002.53
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469345.61
G-protein coupled receptor activityGO:00049302.95
transmembrane receptor protein tyrosine kinase activityGO:00047145.55
phosphatidylinositol 3-kinase bindingGO:00435486.41
growth factor bindingGO:00198384.89
nucleotide bindingGO:00001661.96
phosphatidylinositol bisphosphate kinase activityGO:00528135.56
transferase activityGO:00167401.95
protein tyrosine kinase activityGO:00047134.54
protein kinase activityGO:00046723.27
purine nucleotide bindingGO:00170762.19
platelet-derived growth factor beta-receptor activityGO:00050198.64
platelet activating factor receptor activityGO:00049928.64
platelet-derived growth factor-activated receptor activityGO:00050178.13
vascular endothelial growth factor bindingGO:00380858.13
kinase activityGO:00163012.93
purine nucleoside bindingGO:00018832.22
protein kinase bindingGO:00199013.44
kinase bindingGO:00199003.32
small molecule bindingGO:00360941.89
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
catalytic activityGO:00038241.05
growth factor receptor bindingGO:00708514.87
ribonucleoside bindingGO:00325492.22
phosphotransferase activity, alcohol group as acceptorGO:00167733.08
transmembrane signaling receptor activityGO:00048882.57
adenyl ribonucleotide bindingGO:00325592.41
ATP bindingGO:00055242.43
protein bindingGO:00055150.46
transferase activity, transferring phosphorus-containing groupsGO:00167722.77
purine ribonucleotide bindingGO:00325552.2
platelet-derived growth factor bindingGO:00484077.34
receptor bindingGO:00051022.43
transmembrane receptor protein kinase activityGO:00191995.32
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19
receptor activityGO:00048722.32