Gene table of FGFR3 : fibroblast growth factor receptor 3

Gene-disease associations table

Disease IDDisease nameSource of annotation with FGFR3OMIM linkNumber of associated genesgenes
100800ACHONDROPLASIAClinVar, OMIM, HUMSAVAR link to OMIM 1FGFR3
146000HYPOCHONDROPLASIAClinVar, OMIM, HUMSAVAR link to OMIM 1FGFR3
149730LACRIMOAURICULODENTODIGITAL SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 3FGFR3, FGFR2, FGF10
602849MUENKE SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 1FGFR3
616482ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANSOMIM, HUMSAVAR link to OMIM 1FGFR3
109800BLADDER CANCEROMIM, HUMSAVAR link to OMIM 4FGFR3, RB1, KRAS, HRAS
273300TESTICULAR GERM CELL TUMOROMIM, HUMSAVAR link to OMIM 5STK11, BCL10, KIT, FGFR3, STK10
187600THANATOPHORIC DYSPLASIA, TYPE IClinVar, OMIM, HUMSAVAR link to OMIM 1FGFR3
187601THANATOPHORIC DYSPLASIA, TYPE IIClinVar, OMIM, HUMSAVAR link to OMIM 1FGFR3
603956CERVICAL CANCEROMIM, HUMSAVAR link to OMIM 1FGFR3
612247CROUZON SYNDROME WITH ACANTHOSIS NIGRICANSClinVar, OMIM, HUMSAVAR link to OMIM 1FGFR3
182000KERATOSIS, SEBORRHEICHUMSAVAR link to OMIM 2FGFR3, PIK3CA
162900NEVUS, EPIDERMALClinVar, OMIM, HUMSAVAR link to OMIM 5FGFR3, PIK3CA, KRAS, NRAS, HRAS
101400SAETHRE-CHOTZEN SYNDROMEClinVar link to OMIM 3FGFR3, TWIST1, FGFR2
610474CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROMEOMIM, HUMSAVAR link to OMIM 1FGFR3
114500COLORECTAL CANCEROMIM link to OMIM 30TLR4, RAD54B, PTPRJ, TP53, EP300, PTPN12, ODC1, FLCN, TLR2, BAX, PLA2G2A, AURKA, NRAS, APC, MCC, TRIM28, MLH3, AKT1, MT-CO1, AXIN2, CTNNB1, PDGFRL, PIK3CA, KAT5, DCC, BRAF, CCND1, FGFR3, DLC1, BUB1B

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Annotation of the gene FGFR3

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
Signaling pathways regulating pluripotency of stem cellshsa045505.6
Bladder cancerhsa052197.38
MicroRNAs in cancerhsa052065.38
Pathways in cancerhsa052003.98
Rap1 signaling pathwayhsa040154.97
Ras signaling pathwayhsa040144.9
Central carbon metabolism in cancerhsa052306.7
Endocytosishsa041444.92
MAPK signaling pathwayhsa040104.63
Regulation of actin cytoskeletonhsa048104.9
PI3K-Akt signaling pathwayhsa041514.21
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Interleukin-2 signalingR-HSA-4519275.05
Signaling by the B Cell Receptor (BCR)R-HSA-9837054.62
GAB1 signalosomeR-HSA-1802926.31
Developmental BiologyR-HSA-12667383.48
Signaling by VEGFR-HSA-1941384.66
FCERI mediated MAPK activationR-HSA-28717964.32
IRS-mediated signallingR-HSA-1123994.87
VEGFA-VEGFR2 PathwayR-HSA-44200974.7
Signaling by EGFRR-HSA-1779294.59
PI-3K cascade:FGFR3R-HSA-56547106.37
DAP12 interactionsR-HSA-21721274.56
Downstream signaling of activated FGFR4R-HSA-56547164.71
Signaling by ERBB2R-HSA-12279864.66
VEGFR2 mediated cell proliferationR-HSA-52189215.07
PI3K/AKT activationR-HSA-1982036.32
Phospholipase C-mediated cascade; FGFR3R-HSA-56542277.52
Immune SystemR-HSA-1682562.37
Frs2-mediated activationR-HSA-1709685.12
PI3K events in ERBB2 signalingR-HSA-19636426.37
Downstream signal transductionR-HSA-1867634.65
Role of LAT2/NTAL/LAB on calcium mobilizationR-HSA-27309054.95
Signalling to p38 via RIT and RINR-HSA-1877065.12
FRS-mediated FGFR2 signalingR-HSA-56547005.14
FRS-mediated FGFR4 signalingR-HSA-56547125.14
FRS-mediated FGFR3 signalingR-HSA-56547065.14
SHC-mediated cascade:FGFR3R-HSA-56547048.81
Downstream signaling of activated FGFR3R-HSA-56547084.71
Signaling by FGFR in diseaseR-HSA-12260997.49
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.03
Interleukin receptor SHC signalingR-HSA-9125265.09
Innate Immune SystemR-HSA-1682493.17
Downstream signaling of activated FGFR1R-HSA-56546874.71
NGF signalling via TRKA from the plasma membraneR-HSA-1870374.51
Prolonged ERK activation eventsR-HSA-1698935.11
Signaling by FGFR2R-HSA-56547384.68
GRB2 events in EGFR signalingR-HSA-1798125.15
Signaling by FGFR1R-HSA-56547364.69
PI3K events in ERBB4 signalingR-HSA-12503426.37
Negative regulation of FGFR3 signalingR-HSA-56547328.12
PI3K CascadeR-HSA-1097046.68
Axon guidanceR-HSA-4224753.93
Signaling by FGFR3 in diseaseR-HSA-56553328.52
Signaling by LeptinR-HSA-25865525.1
Constitutive Signaling by Aberrant PI3K in CancerR-HSA-22195307.05
IGF1R signaling cascadeR-HSA-24289244.85
IRS-related events triggered by IGF1RR-HSA-24289284.85
Signaling by Insulin receptorR-HSA-747524.73
DiseaseR-HSA-16436853.33
Insulin receptor signalling cascadeR-HSA-747514.85
FGFR3c ligand binding and activationR-HSA-1903729.4
FGFR3b ligand binding and activationR-HSA-19037110.18
PI-3K cascade:FGFR4R-HSA-56547206.37
PI-3K cascade:FGFR1R-HSA-56546896.37
Gastrin-CREB signalling pathway via PKC and MAPKR-HSA-8819074.26
Downstream signaling events of B Cell Receptor (BCR)R-HSA-11683725.59
PI3K/AKT Signaling in CancerR-HSA-22195286.56
Diseases of signal transductionR-HSA-56632024.89
GRB2 events in ERBB2 signalingR-HSA-19636405.15
Signalling to RASR-HSA-1670445.08
PI-3K cascade:FGFR2R-HSA-56546956.37
Downstream signaling of activated FGFR2R-HSA-56546964.71
SHC1 events in EGFR signalingR-HSA-1803365.15
FRS-mediated FGFR1 signalingR-HSA-56546935.14
SHC1 events in ERBB2 signalingR-HSA-12501965.15
ARMS-mediated activationR-HSA-1709845.12
SHC1 events in ERBB4 signalingR-HSA-12503475.15
Signaling by PDGFR-HSA-1867974.53
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)R-HSA-24041924.85
Signaling by InterleukinsR-HSA-4491474.71
Cytokine Signaling in Immune systemR-HSA-12802153.74
SOS-mediated signallingR-HSA-1124125.15
Signaling by ERBB4R-HSA-12363944.7
MAPK1/MAPK3 signalingR-HSA-56849965.11
Adaptive Immune SystemR-HSA-12802183.19
MAPK family signaling cascadesR-HSA-56830574.89
PIP3 activates AKT signalingR-HSA-12576046.37
RAF/MAP kinase cascadeR-HSA-56730015.15
Signaling by FGFR4R-HSA-56547434.69
Signaling by FGFR3R-HSA-56547414.69
Signaling by FGFRR-HSA-1902364.67
t(4;14) translocations of FGFR3R-HSA-203351512.98
FGFR3 mutant receptor activationR-HSA-20335149.4
FGFR3 ligand binding and activationR-HSA-1902399.4
Signaling by SCF-KITR-HSA-14335574.73
NCAM signaling for neurite out-growthR-HSA-3751654.9
DAP12 signalingR-HSA-24244914.64
Interleukin-3, 5 and GM-CSF signalingR-HSA-5129884.99
Signaling by activated point mutants of FGFR3R-HSA-18391309.4
Signalling by NGFR-HSA-1665204.23
Signaling by GPCRR-HSA-3727902.68
Signalling to ERKsR-HSA-1876875.04
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
signal transducer activityGO:00048712.28
purine ribonucleoside triphosphate bindingGO:00356392.22
guanyl-nucleotide exchange factor activityGO:00050854.02
growth factor bindingGO:00198384.89
molecular transducer activityGO:00600892.32
bindingGO:00054880.18
phosphatidylinositol 3-kinase activityGO:00350045.49
molecular function regulatorGO:00987722.51
heterocyclic compound bindingGO:19013631.06
purine nucleoside bindingGO:00018832.22
nucleoside bindingGO:00018822.21
phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469345.61
transferase activityGO:00167401.95
nucleotide bindingGO:00001661.96
phosphatidylinositol bisphosphate kinase activityGO:00528135.56
transmembrane receptor protein tyrosine kinase activityGO:00047145.55
protein tyrosine kinase activityGO:00047134.54
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
protein kinase activityGO:00046723.27
ATP bindingGO:00055242.43
protein bindingGO:00055150.46
1-phosphatidylinositol-3-kinase activityGO:00163035.98
kinase activityGO:00163012.93
nucleoside phosphate bindingGO:19012651.96
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
fibroblast growth factor bindingGO:00171346.52
phosphotransferase activity, alcohol group as acceptorGO:00167733.08
adenyl nucleotide bindingGO:00305542.4
phosphatidylinositol kinase activityGO:00527425.81
organic cyclic compound bindingGO:00971591.05
carbohydrate derivative bindingGO:00973672.03
transmembrane signaling receptor activityGO:00048882.57
adenyl ribonucleotide bindingGO:00325592.41
transmembrane receptor activityGO:00996002.53
fibroblast growth factor-activated receptor activityGO:00050078.13
transferase activity, transferring phosphorus-containing groupsGO:00167722.77
purine ribonucleotide bindingGO:00325552.2
transmembrane receptor protein kinase activityGO:00191995.32
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19
receptor activityGO:00048722.32