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FGFR3 fibroblast growth factor receptor 3 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000142 Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $899.00 20
NM_001163213 Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $899.00 20
NM_022965 Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006713868 PREDICTED: Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_006713869 PREDICTED: Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_006713870 PREDICTED: Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_006713871 PREDICTED: Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_006713872 PREDICTED: Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_006713873 PREDICTED: Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant X6, mRNA. GenEZ ORF Cloning On-demand $899.00 20

*Business Day

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Gene Symbol FGFR3
Entrez Gene ID 2261
Full Name fibroblast growth factor receptor 3
Synonyms ACH, CD333, CEK2, HSFGFR3EX, JTK4
General protein information
Preferred Names
fibroblast growth factor receptor 3
Names
fibroblast growth factor receptor 3
FGFR-3
tyrosine kinase JTK4
hydroxyaryl-protein kinase
fibroblast growth factor receptor 3 variant 4
NP_000133.1
NP_001156685.1
NP_075254.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

4

4p16.3

Summary This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Jul 2009].
Disorder

MIM: 134934

Achondroplasia, 100800 (3); Hypochondroplasia, 146000 (3); Thanatophoric dysplasia, type I, 187600 (3);

mRNA Protein Product Sequence Price Select
NM_000142, 254028235 NP_000133, 4503711 fibroblast growth factor receptor 3 isoform 1 precursor ORF Sequence $750.00
NM_001163213, 254028241 NP_001156685, 254028242 fibroblast growth factor receptor 3 isoform 3 precursor ORF Sequence $750.00
NM_022965, 254028238 NP_075254, 13112048 fibroblast growth factor receptor 3 isoform 2 precursor ORF Sequence $700.00
XM_006713868, 578808119 XP_006713931, 578808120 fibroblast growth factor receptor 3 isoform X1 ORF Sequence $750.00
XM_006713869, 578808121 XP_006713932, 578808122 fibroblast growth factor receptor 3 isoform X2 ORF Sequence $750.00
XM_006713870, 578808123 XP_006713933, 578808124 fibroblast growth factor receptor 3 isoform X3 ORF Sequence $750.00
XM_006713871, 578808125 XP_006713934, 578808126 fibroblast growth factor receptor 3 isoform X4 ORF Sequence $750.00
XM_006713872, 578808127 XP_006713935, 578808128 fibroblast growth factor receptor 3 isoform X5 ORF Sequence $750.00
XM_006713873, 578808129 XP_006713936, 578808130 fibroblast growth factor receptor 3 isoform X6 ORF Sequence $750.00
KEGG
hsa04010MAPK signaling pathway
hsa04810Regulation of actin cytoskeleton
hsa05219Bladder cancer
hsa05200Pathways in cancer
hsa04144Endocytosis
hsa04151PI3K-Akt signaling pathway
hsa05206MicroRNAs in cancer
hsa04014Ras signaling pathway
hsa04015Rap1 signaling pathway
WikiPathways
WP474Endochondral Ossification
WP51Regulation of Actin Cytoskeleton
WP2064Neural Crest Differentiation
Reactome
REACT_9470Signaling by FGFR
REACT_12578GAB1 signalosome
REACT_9510FGFR3c ligand binding and activation
REACT_9417Signaling by EGFR
REACT_9396FGFR ligand binding and activation
REACT_9439FGFR3 ligand binding and activation
REACT_16888Signaling by PDGF
REACT_6900Immune System
REACT_6802Innate Immune System
REACT_9508FGFR3b ligand binding and activation
REACT_17025Downstream signal transduction
REACT_976PI3K Cascade
REACT_762IRS-related events
REACT_11061Signalling by NGF
REACT_1195Insulin receptor signalling cascade
REACT_12464PI3K/AKT activation
REACT_498Signaling by Insulin receptor
REACT_332IRS-mediated signalling
REACT_12056NGF signalling via TRKA from the plasma membrane
REACT_21272Downstream signaling of activated FGFR
REACT_21310Phospholipase C-mediated cascade
REACT_21270PI-3K cascade
REACT_21247FRS2-mediated cascade
REACT_21374SHC-mediated cascade
REACT_75774Adaptive Immune System
REACT_75829PIP3 activates AKT signaling
REACT_111102Signal Transduction
REACT_111184Negative regulation of FGFR signaling
REACT_111040Signaling by SCF-KIT
REACT_147727Constitutive PI3K/AKT Signaling in Cancer
REACT_147723PI3K/AKT Signaling in Cancer
REACT_147694DAP12 interactions
REACT_147814DAP12 signaling
REACT_115596Signaling by ERBB4
REACT_115755Signaling by ERBB2
REACT_116008PI3K events in ERBB2 signaling
REACT_116125Disease
REACT_115871Signaling by EGFR in Cancer
REACT_115961PI3K events in ERBB4 signaling
REACT_118773Signaling by the B Cell Receptor (BCR)
REACT_118638Downstream signaling events of B Cell Receptor (BCR)
REACT_120736Signaling by FGFR in disease
REACT_121249Signaling by FGFR3 mutants
REACT_121011t(4;14) translocations of FGFR3
REACT_121398Signaling by FGFR mutants
REACT_121337Signaling by activated point mutants of FGFR3
REACT_163936Fc epsilon receptor (FCERI) signaling
REACT_163769Role of LAT2/NTAL/LAB on calcium mobilization
REACT_150359Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
REACT_150203IRS-related events triggered by IGF1R
REACT_150210IGF1R signaling cascade
Homo sapiens (human)FGFR3NP_000133.1
Pan troglodytes (chimpanzee)FGFR3XP_003310269.1
Macaca mulatta (Rhesus monkey)FGFR3XP_001101108.1
Canis lupus familiaris (dog)FGFR3XP_005618584.1
Bos taurus (cattle)FGFR3NP_776743.1
Mus musculus (house mouse)Fgfr3NP_001156687.1
Rattus norvegicus (Norway rat)Fgfr3NP_445881.1
Gallus gallus (chicken)FGFR3NP_990840.2
Danio rerio (zebrafish)fgfr3NP_571681.1
Drosophila melanogaster (fruit fly)htlNP_732286.1
Caenorhabditis elegansegl-15NP_001024723.1
Xenopus (Silurana) tropicalis (western clawed frog)fgfr3NP_001135467.1
Process
IDNameEvidence
GO:0000122negative regulation of transcription from RNA polymerase II promoterIEA
GO:0000165MAPK cascadeIEA
GO:0001501skeletal system developmentTAS
GO:0001938positive regulation of endothelial cell proliferationIEA
GO:0001958endochondral ossificationTAS
GO:0002009morphogenesis of an epitheliumIEA
GO:0002062chondrocyte differentiationTAS
GO:0002089lens morphogenesis in camera-type eyeIEA
GO:0003416endochondral bone growthTAS
GO:0007173epidermal growth factor receptor signaling pathwayTAS
GO:0007259JAK-STAT cascadeTAS
GO:0007267cell-cell signalingIEA
GO:0008284positive regulation of cell proliferationIGI
GO:0008284positive regulation of cell proliferationIMP
GO:0008286insulin receptor signaling pathwayTAS
GO:0008543fibroblast growth factor receptor signaling pathwayIDA
GO:0008543fibroblast growth factor receptor signaling pathwayIGI
GO:0008543fibroblast growth factor receptor signaling pathwayTAS
GO:0010518positive regulation of phospholipase activityIMP
GO:0018108peptidyl-tyrosine phosphorylationIDA
GO:0021762substantia nigra developmentIEA
GO:0022010central nervous system myelinationIEA
GO:0030282bone mineralizationISS
GO:0031398positive regulation of protein ubiquitinationIEA
GO:0035019somatic stem cell maintenanceIEA
GO:0035988chondrocyte proliferationTAS
GO:0038095Fc-epsilon receptor signaling pathwayTAS
GO:0042511positive regulation of tyrosine phosphorylation of Stat1 proteinIMP
GO:0042517positive regulation of tyrosine phosphorylation of Stat3 proteinIMP
GO:0043410positive regulation of MAPK cascadeIMP
GO:0043525positive regulation of neuron apoptotic processIEA
GO:0043552positive regulation of phosphatidylinositol 3-kinase activityIMP
GO:0043552positive regulation of phosphatidylinositol 3-kinase activityTAS
GO:0045087innate immune responseTAS
GO:0045597positive regulation of cell differentiationIEA
GO:0045839negative regulation of mitosisIEA
GO:0045879negative regulation of smoothened signaling pathwayIEA
GO:0046777protein autophosphorylationIDA
GO:0048011neurotrophin TRK receptor signaling pathwayTAS
GO:0048015phosphatidylinositol-mediated signalingTAS
GO:0048546digestive tract morphogenesisIEA
GO:0048640negative regulation of developmental growthISS
GO:0048678response to axon injuryIEA
GO:0048712negative regulation of astrocyte differentiationIEA
GO:0050680negative regulation of epithelial cell proliferationIEA
GO:0060113inner ear receptor cell differentiationIEA
GO:0060349bone morphogenesisISS
GO:0060349bone morphogenesisTAS
GO:0060385axonogenesis involved in innervationIEA
GO:0061144alveolar secondary septum developmentIEA
GO:0070307lens fiber cell developmentIEA
GO:0070374positive regulation of ERK1 and ERK2 cascadeIMP
GO:0070977bone maturationISS
GO:0072148epithelial cell fate commitmentIEA
GO:0090080positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayIEA
GO:0090102cochlea developmentIEA
GO:0090263positive regulation of canonical Wnt signaling pathwayIEA
GO:1902178fibroblast growth factor receptor apoptotic signaling pathwayIMP
Component
IDNameEvidence
GO:0005576extracellular regionIEA
GO:0005634nucleusIEA
GO:0005764lysosomeIEA
GO:0005783endoplasmic reticulumIEA
GO:0005886plasma membraneTAS
GO:0005887integral component of plasma membraneIDA
GO:0005925focal adhesionTAS
GO:0009898cytoplasmic side of plasma membraneIEA
GO:0009986cell surfaceIEA
GO:0016023cytoplasmic membrane-bounded vesicleIEA
GO:0048471perinuclear region of cytoplasmIEA
Function
IDNameEvidence
GO:0004713protein tyrosine kinase activityIDA
GO:0005007fibroblast growth factor-activated receptor activityIMP
GO:0005515protein bindingIPI
GO:0005524ATP bindingIEA
GO:0017134fibroblast growth factor bindingIDA
GO:0017134fibroblast growth factor bindingIPI
GeneCards FGFR3
UniProt P22607, Q0IJ44, X5D2G8
Vega OTTHUMG00000121148
MIM 134934
Ensembl ENSG00000068078
HGNC 3690
HPRD 00624

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the FGFR3 gene?

The FGFR3 gene provides instructions for making a protein called fibroblast growth factor receptor 3. This protein is part of a family of four fibroblast growth factor receptors that share similar structures and functions. These proteins play a role in several important cellular processes, including regulation of cell growth and division, determination of cell type, formation of blood vessels, wound healing, and embryo development.

The FGFR3 protein spans the cell membrane, so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. This positioning of the protein allows it to interact with specific growth factors outside the cell and to receive signals that control growth and development. When these growth factors attach to the FGFR3 protein, the protein is turned on (activated), which triggers a cascade of chemical reactions inside the cell that instruct the cell to undergo certain changes, such as maturing to take on specialized functions.

Several versions (isoforms) of the FGFR3 protein are produced from the FGFR3 gene. The different isoforms are found in various tissues of the body and they interact with a variety of growth factors. Many isoforms are found in the cells that form bones. Researchers believe that the FGFR3 protein in bone cells regulates bone growth by limiting the formation of bone from cartilage (a process called ossification), particularly in the long bones. One particular isoform of the FGFR3 protein is found specifically in cells that line the surfaces of the body (epithelial cells), including the cells that form the outermost layer of skin, called the epidermis.

Interactant

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