Human Gene FGFR3 (uc003gdr.3)
  Description: Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.
RefSeq Summary (NM_000142): 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. [provided by RefSeq, Aug 2017].
Transcript (Including UTRs)
   Position: hg19 chr4:1,795,039-1,810,599 Size: 15,561 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr4:1,795,662-1,808,989 Size: 13,328 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:1,795,039-1,810,599)mRNA (may differ from genome)Protein (806 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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neXtProtOMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FGFR3_HUMAN
DESCRIPTION: RecName: Full=Fibroblast growth factor receptor 3; Short=FGFR-3; EC=2.7.10.1; AltName: CD_antigen=CD333; Flags: Precursor;
FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinase activation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling. Over-expressed or constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B.
CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
ENZYME REGULATION: Present in an inactive conformation in the absence of bound ligand. Ligand binding leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by SU5402.
SUBUNIT: Monomer. Homodimer after ligand binding. Interacts with FGF1, FGF2, FGF4, FGF6; FGF8, FGF9, FGF10, FGF17, FGF18, FGF19, FGF20 and FGF23 (in vitro). Interacts with KLB. Affinity for fibroblast growth factors (FGFs) is increased by heparan sulfate glycosaminoglycans that function as coreceptors. Likewise, KLB increases the affinity for FGF19 and FGF21. Interacts with PIK3R1, PLCG1, SOCS1 and SOCS3.
INTERACTION: P05230:FGF1; NbExp=3; IntAct=EBI-348399, EBI-698068;
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cytoplasmic vesicle. Endoplasmic reticulum. Note=The activated receptor is rapidly internalized and degraded. Detected in intracellular vesicles after internalization of the autophosphorylated receptor.
TISSUE SPECIFICITY: Expressed in brain, kidney and testis. Very low or no expression in spleen, heart, and muscle. In 20- to 22- week old fetuses it is expressed at high level in kidney, lung, small intestine and brain, and to a lower degree in spleen, liver, and muscle. Isoform 2 is detected in epithelial cells. Isoform 1 is not detected in epithelial cells. Isoform 1 and isoform 2 are detected in fibroblastic cells.
DOMAIN: The second and third Ig-like domains directly interact with fibroblast growth factors (FGF) and heparan sulfate proteoglycans.
PTM: Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes receptor dimerization and autophosphorylation on tyrosine residues. Autophosphorylation occurs in trans between the two FGFR molecules present in the dimer. Phosphorylation at Tyr-724 is essential for stimulation of cell proliferation and activation of PIK3R1, STAT1 and MAP kinase signaling. Phosphorylation at Tyr-760 is required for interaction with PIK3R1 and PLCG1.
PTM: Ubiquitinated. Is rapidly ubiquitinated after ligand binding and autophosphorylation, leading to receptor internalization and degradation. Subject to both proteasomal and lysosomal degradation.
PTM: N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus.
DISEASE: Defects in FGFR3 are the cause of achondroplasia (ACH) [MIM:100800]. ACH is an autosomal dominant disease and is the most frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands.
DISEASE: Defects in FGFR3 are the cause of Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247]. Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and facial hypoplasia. Crouzon syndrome with acanthosis nigricans (a skin disorder characterized by pigmentation anomalies), CAN, is considered to be an independent disorder from classic Crouzon syndrome. CAN is characterized by additional more severe physical manifestation, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, and is caused by a specific mutation (Ala-391 to Glu) in the transmembrane domain of FGFR3. It is proposed to have an autosomal dominant mode of inheritance.
DISEASE: Defects in FGFR3 are a cause of thanatophoric dysplasia type 1 (TD1) [MIM:187600]; also known as thanatophoric dwarfism or platyspondylic lethal skeletal dysplasia Sand Diego type (PLSD- SD). TD1 is the most common neonatal lethal skeletal dysplasia. Affected individuals display features similar to those seen in homozygous achondroplasia. It causes severe shortening of the limbs with macrocephaly, narrow thorax and short ribs. In the most common subtype, TD1, femur are curved.
DISEASE: Defects in FGFR3 are a cause of thanatophoric dysplasia type 2 (TD2) [MIM:187601]. It is a neonatal lethal skeletal dysplasia causing severe shortening of the limbs, narrow thorax and short ribs. Patients with thanatophoric dysplasia type 2 have straight femurs and cloverleaf skull.
DISEASE: Defects in FGFR3 are a cause of hypochondroplasia (HCH) [MIM:146000]. HCH is an autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype.
DISEASE: Defects in FGFR3 are a cause of susceptibility to bladder cancer (BLC) [MIM:109800]. A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas. They begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. Note=Somatic mutations can constitutively activate FGFR3.
DISEASE: Defects in FGFR3 are a cause of cervical cancer (CERCA) [MIM:603956]. A malignant neoplasm of the cervix, typically originating from a dysplastic or premalignant lesion previously present at the active squamocolumnar junction. The transformation from mild dysplastic to invasive carcinoma generally occurs slowly within several years, although the rate of this process varies widely. Carcinoma in situ is particularly known to precede invasive cervical cancer in most cases. Cervical cancer is strongly associated with infection by oncogenic types of human papillomavirus.
DISEASE: Defects in FGFR3 are the cause of camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]. CATSHL syndrome is an autosomal dominant syndrome characterized by permanent and irreducible flexion of one or more fingers of the hand and/or feet, tall stature, scoliosis and/or a pectus excavatum, and hearing loss. Affected individuals have developmental delay and/or mental retardation, and several of these have microcephaly. Radiographic findings included tall vertebral bodies with irregular borders and broad femoral metaphyses with long tubular shafts. On audiological exam, each tested member have bilateral sensorineural hearing loss and absent otoacoustic emissions. The hearing loss was congenital or developed in early infancy, progressed variably in early childhood, and range from mild to severe. Computed tomography and magnetic resonance imaging reveal that the brain, middle ear, and inner ear are structurally normal.
DISEASE: Defects in FGFR3 are a cause of multiple myeloma (MM) [MIM:254500]. MM is a malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. Note=A chromosomal aberration involving FGFR3 is found in multiple myeloma. Translocation t(4;14)(p16.3;q32.3) with the IgH locus.
DISEASE: Defects in FGFR3 are a cause of lacrimo-auriculo-dento- digital syndrome (LADDS) [MIM:149730]; also known as Levy- Hollister syndrome. LADDS is a form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. LADDS is an autosomal dominant syndrome characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed.
DISEASE: Defects in FGFR3 are a cause of keratinocytic non- epidermolytic nevus (KNEN) [MIM:162900]; also known as pigmented moles. Epidermal nevi of the common, non-organoid and non- epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion to widespread and systematized involvement. They may be present at birth or develop early during childhood.
DISEASE: Defects in FGFR3 are a cause of Muenke syndrome (MNKS) [MIM:602849]; also known as Muenke non-syndromic coronal craniosynostosis. MNKS is a condition characterized by premature closure of coronal suture of skull during development (coronal craniosynostosis), which affects the shape of the head and face. It may be uni- or bilateral. When bilateral, it is characterized by a skull with a small antero-posterior diameter (brachycephaly), often with a decrease in the depth of the orbits and hypoplasia of the maxillae. Unilateral closure of the coronal sutures leads to flattening of the orbit on the involved side (plagiocephaly). The intellect is normal. In addition to coronal craniosynostosis some affected individuals show skeletal abnormalities of hands and feet, sensorineural hearing loss, mental retardation and respiratory insufficiency.
DISEASE: Defects in FGFR3 are a cause of keratosis seborrheic (KERSEB) [MIM:182000]. A common benign skin tumor. Seborrheic keratoses usually begin with the appearance of one or more sharply defined, light brown, flat macules. The lesions may be sparse or numerous. As they initially grow, they develop a velvety to finely verrucous surface, followed by an uneven warty surface with multiple plugged follicles and a dull or lackluster appearance.
DISEASE: Defects in FGFR3 may be a cause of testicular germ cell tumor (TGCT) [MIM:273300]. A common solid malignancy in males. Germ cell tumors of the testis constitute 95% of all testicular neoplasms.
SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.
SIMILARITY: Contains 3 Ig-like C2-type (immunoglobulin-like) domains.
SIMILARITY: Contains 1 protein kinase domain.
SEQUENCE CAUTION: Sequence=BAD92678.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FGFR99.html";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGFR3";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fgfr3/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FGFR3
CDC HuGE Published Literature: FGFR3
Positive Disease Associations: bladder cancer , craniosynostosis , multiple myeloma , thanatophoric dysplasia
Related Studies:
  1. bladder cancer
    Hernandez, S. et al. 2006, Prospective study of FGFR3 mutations as a prognostic factor in nonmuscle invasive urothelial bladder carcinomas, J Clin Oncol 2006 24(22) 3664-71. [PubMed 16877735]
    The findings of this large study strongly support the notion that FGFR3 mutations characterize a subgroup of bladder cancers with good prognosis; patients with mutant TaG1 tumors have a higher risk of recurrence; and the F386L variant is selectively associated with low-grade tumors.
  2. craniosynostosis
    Moko SB et al. 2001, New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis., Journal of cranio-maxillo-facial surgery. 2001 Feb;29(1):22-4. [PubMed 11467490]
    Our data and those of other investigators suggest that we should begin integrating molecular diagnosis with phenotypic diagnosis of craniosynostoses.
  3. multiple myeloma
    Fracchiolla NS et al. 1998, FGFR3 gene mutations associated with human skeletal disorders occur rarely in multiple myeloma., Blood. 1998 Oct;92(8):2987-9. [PubMed 9763594]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: FGFR3
Diseases sorted by gene-association score: thanatophoric dysplasia, type i* (1790), achondroplasia* (1723), hypochondroplasia* (1711), ladd syndrome* (1673), catshl syndrome* (1668), muenke syndrome* (1558), crouzon syndrome with acanthosis nigricans* (1291), saddan* (1288), thanatophoric dysplasia, type ii* (1269), epidermal nevus, somatic* (1200), cervical cancer, somatic* (812), bladder cancer, somatic* (661), testicular germ cell tumor* (479), colorectal cancer* (362), craniosynostosis* (324), multiple myeloma* (257), saethre-chotzen syndrome* (252), keratosis, seborrheic, somatic* (229), schimmelpenning-feuerstein-mims syndrome, somatic mosaic* (200), fgfr3-related isolated coronal synostosis* (200), isolated brachycephaly* (175), isolated plagiocephaly* (175), giant cell glioblastoma* (143), gliosarcoma* (132), colonic benign neoplasm* (111), fgfr-related craniosynostosis syndromes* (100), fgfr3-related lacrimo-auriculo-dento-digital syndrome* (100), acanthosis nigricans (59), dwarfism (49), skeletal dysplasia (29), crouzon syndrome (29), plagiocephaly (28), dermatosis papulosa nigra (24), keratosis (22), pfeiffer syndrome (20), chiari malformation (19), skeletal dysplasia, san diego type (18), cherubism (16), skeletal dysplasias (16), bladder papillary transitional cell neoplasm (16), urinary tract papillary transitional cell benign neoplasm (16), non-invasive bladder papillary urothelial neoplasm (15), adenocarcinoma (15), synostosis (15), urinary bladder cancer (14), apert syndrome (14), osteochondroma (13), luteoma (12), jackson-weiss syndrome (12), leri-weill dyschondrosteosis (12), bone development disease (11), plasma cell leukemia (11), osteoglophonic dysplasia (10), osteochondrodysplasia (10), wolf-hirschhorn syndrome (10), bladder urothelial carcinoma (10), synovial chondromatosis (9), deafness, autosomal recessive 51 (9), beare-stevenson cutis gyrata syndrome (8), osteogenesis imperfecta, type ii (8), spondyloepiphyseal dysplasia with congenital joint dislocations (8), hydrocephalus (8), scoliosis (8), chondromyxoid fibroma (7), sed congenita (7), chromosome 2q35 duplication syndrome (7), chondroblastoma (7), chorioangioma (6), pigmentation disease (6), smoldering myeloma (6), acromesomelic dysplasia, maroteaux type (6), autosomal dominant disease (6), alcohol-related birth defect (5), polyhydramnios (5), hypertropia (5), porokeratosis (5), hemangioma of intra-abdominal structure (5), atelosteogenesis (4), adenosquamous cell lung carcinoma (4), metaphyseal chondrodysplasia, murk jansen type (4), transitional cell carcinoma (4), osteogenesis imperfecta, type i (4), acromesomelic dysplasia (4), autosomal dominant nonsyndromic deafness 6 (4), dowling-degos disease 1 (3), papilloma (3), lung cancer (2), strabismus (2), kabuki syndrome 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 153.44 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 1191.65 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -161.60256-0.631 Picture PostScript Text
3' UTR -665.631610-0.413 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR003598 - Ig_sub2
IPR013151 - Immunoglobulin
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR001245 - Ser-Thr/Tyr_kinase_cat_dom
IPR008266 - Tyr_kinase_AS
IPR020635 - Tyr_kinase_cat_dom
IPR016248 - Tyr_kinase_fibroblast_GF_rcpt

Pfam Domains:
PF00047 - Immunoglobulin domain
PF00069 - Protein kinase domain
PF07679 - Immunoglobulin I-set domain
PF07714 - Protein tyrosine kinase
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin
56112 - Protein kinase-like (PK-like)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1RY7 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P22607
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0005007 fibroblast growth factor-activated receptor activity
GO:0005088 Ras guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016303 1-phosphatidylinositol-3-kinase activity
GO:0016740 transferase activity
GO:0017134 fibroblast growth factor binding
GO:0042802 identical protein binding
GO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity

Biological Process:
GO:0000165 MAPK cascade
GO:0001501 skeletal system development
GO:0001958 endochondral ossification
GO:0002062 chondrocyte differentiation
GO:0003416 endochondral bone growth
GO:0006468 protein phosphorylation
GO:0006915 apoptotic process
GO:0007267 cell-cell signaling
GO:0008284 positive regulation of cell proliferation
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0010518 positive regulation of phospholipase activity
GO:0016310 phosphorylation
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0030282 bone mineralization
GO:0035988 chondrocyte proliferation
GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process
GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein
GO:0043410 positive regulation of MAPK cascade
GO:0043552 positive regulation of phosphatidylinositol 3-kinase activity
GO:0046777 protein autophosphorylation
GO:0046854 phosphatidylinositol phosphorylation
GO:0048640 negative regulation of developmental growth
GO:0051897 positive regulation of protein kinase B signaling
GO:0060349 bone morphogenesis
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0070977 bone maturation
GO:1902178 fibroblast growth factor receptor apoptotic signaling pathway

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030133 transport vesicle
GO:0031410 cytoplasmic vesicle
GO:0005925 focal adhesion


-  Descriptions from all associated GenBank mRNAs
  AB209441 - Homo sapiens mRNA for fibroblast growth factor receptor 3 isoform 1 precursor variant protein.
AF245114 - Homo sapiens fibroblast growth factor receptor 3 (FGFR3) mRNA, complete cds, alternatively spliced.
M58051 - Human fibroblast growth factor receptor (FGFR3) mRNA, complete cds.
JA667064 - Sequence 1 from Patent WO2011139842.
JA667065 - Sequence 2 from Patent WO2011139842.
JD124719 - Sequence 105743 from Patent EP1572962.
BC166684 - Synthetic construct Homo sapiens clone IMAGE:100066410, MGC:195547 fibroblast growth factor receptor 3 (FGFR3) mRNA, encodes complete protein.
AB527285 - Synthetic construct DNA, clone: pF1KB7015, Homo sapiens FGFR3 gene for fibroblast growth factor receptor 3, without stop codon, in Flexi system.
AB527276 - Synthetic construct DNA, clone: pF1KB4456, Homo sapiens FGFR3 gene for fibroblast growth factor receptor 3, without stop codon, in Flexi system.
KJ534834 - Homo sapiens clone FGFR3_iso-A_adult-A07 fibroblast growth factor receptor 3 isoform A (FGFR3) mRNA, partial cds, alternatively spliced.
KJ534974 - Homo sapiens clone FGFR3_iso-C_fetal-F09 fibroblast growth factor receptor 3 isoform C (FGFR3) mRNA, partial cds, alternatively spliced.
KJ535004 - Homo sapiens clone FGFR3_iso-B_adult-A12 fibroblast growth factor receptor 3 isoform B (FGFR3) mRNA, complete cds, alternatively spliced.
HM244683 - Homo sapiens fibroblast growth factor receptor 3 variant 4 (FGFR3) mRNA, complete cds, alternatively spliced.
M64347 - Human novel growth factor receptor mRNA, 3' cds.
AF369211 - Homo sapiens fibroblast growth factor receptor 3 IIIc isoform (FGFR3) mRNA, partial cds.
AF369212 - Homo sapiens fibroblast growth factor receptor 3 IIIc isoform (FGFR3) mRNA, partial cds.
AF369213 - Homo sapiens fibroblast growth factor receptor 3 IIIc isoform (FGFR3) mRNA, partial cds.
BC121175 - Homo sapiens fibroblast growth factor receptor 3, mRNA (cDNA clone IMAGE:40122515), partial cds.
BC128610 - Homo sapiens fibroblast growth factor receptor 3, mRNA (cDNA clone IMAGE:40122516), partial cds.
BC153824 - Homo sapiens fibroblast growth factor receptor 3, mRNA (cDNA clone IMAGE:40122517), partial cds.
M59374 - Human tyrosine kinase (JTK4) mRNA, partial cds.
AK308936 - Homo sapiens cDNA, FLJ98977.
AF238374 - Homo sapiens mutant fibroblast growth factor receptor 3 (FGFR3) mRNA, partial cds.
JD486078 - Sequence 467102 from Patent EP1572962.
JD127150 - Sequence 108174 from Patent EP1572962.
JD150736 - Sequence 131760 from Patent EP1572962.
JD543536 - Sequence 524560 from Patent EP1572962.
JD199327 - Sequence 180351 from Patent EP1572962.
JD108269 - Sequence 89293 from Patent EP1572962.
JD243662 - Sequence 224686 from Patent EP1572962.
JD451938 - Sequence 432962 from Patent EP1572962.
JD163504 - Sequence 144528 from Patent EP1572962.
JD347380 - Sequence 328404 from Patent EP1572962.
JD141711 - Sequence 122735 from Patent EP1572962.
JD537737 - Sequence 518761 from Patent EP1572962.
JD451089 - Sequence 432113 from Patent EP1572962.
JD471724 - Sequence 452748 from Patent EP1572962.
JD122711 - Sequence 103735 from Patent EP1572962.
JD142133 - Sequence 123157 from Patent EP1572962.
JD517278 - Sequence 498302 from Patent EP1572962.
JD232468 - Sequence 213492 from Patent EP1572962.
JD549482 - Sequence 530506 from Patent EP1572962.
JD446826 - Sequence 427850 from Patent EP1572962.
JD561836 - Sequence 542860 from Patent EP1572962.
MK542707 - Homo sapiens fibroblast growth factor receptor 3-S variant (FGFR3) mRNA, complete cds, alternatively spliced.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04144 - Endocytosis
hsa04810 - Regulation of actin cytoskeleton
hsa05200 - Pathways in cancer
hsa05219 - Bladder cancer

Reactome (by CSHL, EBI, and GO)

Protein P22607 (Reactome details) participates in the following event(s):

R-HSA-190261 FGFR3c binds to FGF
R-HSA-2012074 FGFR3c P250R mutant binds to ligand with enhanced affinity
R-HSA-190388 Autocatalytic phosphorylation of FGFR3c
R-HSA-5654224 Activated FGFR3 binds PLCG1
R-HSA-5654409 Activated FGFR3 binds FRS2
R-HSA-5654623 Activated FGFR3 binds FRS3
R-HSA-5654625 Activated FGFR3 binds SHC1
R-HSA-5654148 p-4Y-PLCG1 dissociates from activated FGFR3
R-HSA-2012073 Autocatalytic phosphorylation of FGFR3c P250R mutant
R-HSA-5654222 Activated FGFR3 phosphorylates PLCG1
R-HSA-5654408 Activated FGFR3 phosphorylates FRS2
R-HSA-5654565 Activated ERK1/2 threonine-phosphorylates FGFR3-associated FRS2.
R-HSA-5654637 Activated FGFR3:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5654628 Activated FGFR3 phosphorylates FRS3
R-HSA-5654634 Activated FGFR3 phosphorylates SHC1
R-HSA-5654646 Activated FGFR3:p-SHC1 binds GRB2:SOS1
R-HSA-2077420 FGFR3 mutants bind and are inactivated by tyrosine kinase inhibitors
R-HSA-5655244 Activated FGFR3 mutants bind PLCG1
R-HSA-5655262 Activated FGFR3 mutants bind FRS2
R-HSA-5655247 p-4Y-PLCG1 dissociates from activated FGFR3 mutants
R-HSA-5654641 Activated FGFR3:p-FRS2:p-PPTN11 binds GRB2:GAB1:PI3KR1
R-HSA-5654730 p-CBL:GRB2 binds p-FRS2:activated FGFR3
R-HSA-5654640 Activated FGFR3:p-FRS2:GRB2:GAB1:PI3KR1 binds PIK3CA
R-HSA-5654416 Activated FGFR3:pFRS binds GRB2:SOS1
R-HSA-5654633 Activated FGFR3:p-FRS bind to PPTN11
R-HSA-5655295 Activated FGFR3 mutants:p-FRS2 binds GRB2-SOS1
R-HSA-5655315 Activated FGFR3 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5655270 Activated FGFR3 mutants phosphorylate FRS2
R-HSA-5655243 Activated FGFR3 mutants phosphorylate PLCG1
R-HSA-5654643 Activated FGFR3:p-FRS2:p-PPTN11:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5654679 CBL ubiquitinates FRS2 and FGFR3
R-HSA-5654631 Activated FGFR3 phosphorylates PPTN11
R-HSA-5654647 Activated FGFR3:p-SHC1:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5655285 Activated FGFR3 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5654705 FGFR3-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5654413 Activated FGFR3:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange
R-HSA-5655277 Activated FGFR3 mutants:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5654709 FGFR3- and PTPN11-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-2400009 PI3K inhibitors block PI3K catalytic activity
R-HSA-2316434 PI3K phosphorylates PIP2 to PIP3
R-HSA-5655289 Activated FGFR3 mutant-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-109699 PI3K-containing complexes phosphorylate PIP2 to PIP3
R-HSA-190372 FGFR3c ligand binding and activation
R-HSA-1839130 Signaling by activated point mutants of FGFR3
R-HSA-190239 FGFR3 ligand binding and activation
R-HSA-2033514 FGFR3 mutant receptor activation
R-HSA-5654741 Signaling by FGFR3
R-HSA-5654227 Phospholipase C-mediated cascade; FGFR3
R-HSA-5654706 FRS-mediated FGFR3 signaling
R-HSA-5654704 SHC-mediated cascade:FGFR3
R-HSA-8853338 Signaling by FGFR3 point mutants in cancer
R-HSA-190236 Signaling by FGFR
R-HSA-5654732 Negative regulation of FGFR3 signaling
R-HSA-5654710 PI-3K cascade:FGFR3
R-HSA-5654708 Downstream signaling of activated FGFR3
R-HSA-5655332 Signaling by FGFR3 in disease
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-1226099 Signaling by FGFR in disease
R-HSA-162582 Signal Transduction
R-HSA-5663202 Diseases of signal transduction
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-1643685 Disease
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-109704 PI3K Cascade
R-HSA-2219528 PI3K/AKT Signaling in Cancer
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-199418 Negative regulation of the PI3K/AKT network
R-HSA-5683057 MAPK family signaling cascades
R-HSA-112399 IRS-mediated signalling
R-HSA-74751 Insulin receptor signalling cascade
R-HSA-2428928 IRS-related events triggered by IGF1R
R-HSA-74752 Signaling by Insulin receptor
R-HSA-2428924 IGF1R signaling cascade
R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
R-HSA-190263 FGFR3b binds to FGF
R-HSA-190385 Autocatalytic phosphorylation of FGFR3b
R-HSA-2012084 Constitutive dimerization of FGFR3 cysteine mutants
R-HSA-2033476 Dimerization of FGFR3 point mutants with enhanced kinase activity
R-HSA-5654224 Activated FGFR3 binds PLCG1
R-HSA-5654409 Activated FGFR3 binds FRS2
R-HSA-5654623 Activated FGFR3 binds FRS3
R-HSA-5654625 Activated FGFR3 binds SHC1
R-HSA-5654148 p-4Y-PLCG1 dissociates from activated FGFR3
R-HSA-2012082 Autocatalytic phosphorylation of FGFR3 cysteine mutants
R-HSA-2033485 Autocatalytic phosphorylation of FGFR3 point mutants with enhanced kinase activity
R-HSA-5654222 Activated FGFR3 phosphorylates PLCG1
R-HSA-5654408 Activated FGFR3 phosphorylates FRS2
R-HSA-5654565 Activated ERK1/2 threonine-phosphorylates FGFR3-associated FRS2.
R-HSA-5654637 Activated FGFR3:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5654628 Activated FGFR3 phosphorylates FRS3
R-HSA-5654634 Activated FGFR3 phosphorylates SHC1
R-HSA-5654646 Activated FGFR3:p-SHC1 binds GRB2:SOS1
R-HSA-2077420 FGFR3 mutants bind and are inactivated by tyrosine kinase inhibitors
R-HSA-5655244 Activated FGFR3 mutants bind PLCG1
R-HSA-5655262 Activated FGFR3 mutants bind FRS2
R-HSA-5655247 p-4Y-PLCG1 dissociates from activated FGFR3 mutants
R-HSA-5654641 Activated FGFR3:p-FRS2:p-PPTN11 binds GRB2:GAB1:PI3KR1
R-HSA-5654730 p-CBL:GRB2 binds p-FRS2:activated FGFR3
R-HSA-5654640 Activated FGFR3:p-FRS2:GRB2:GAB1:PI3KR1 binds PIK3CA
R-HSA-5654416 Activated FGFR3:pFRS binds GRB2:SOS1
R-HSA-5654633 Activated FGFR3:p-FRS bind to PPTN11
R-HSA-5655295 Activated FGFR3 mutants:p-FRS2 binds GRB2-SOS1
R-HSA-5655315 Activated FGFR3 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5655270 Activated FGFR3 mutants phosphorylate FRS2
R-HSA-5655243 Activated FGFR3 mutants phosphorylate PLCG1
R-HSA-5654643 Activated FGFR3:p-FRS2:p-PPTN11:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5654679 CBL ubiquitinates FRS2 and FGFR3
R-HSA-5654631 Activated FGFR3 phosphorylates PPTN11
R-HSA-5654647 Activated FGFR3:p-SHC1:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5655285 Activated FGFR3 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5654705 FGFR3-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5654413 Activated FGFR3:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange
R-HSA-5655277 Activated FGFR3 mutants:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5654709 FGFR3- and PTPN11-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-2400009 PI3K inhibitors block PI3K catalytic activity
R-HSA-2316434 PI3K phosphorylates PIP2 to PIP3
R-HSA-5655289 Activated FGFR3 mutant-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-109699 PI3K-containing complexes phosphorylate PIP2 to PIP3
R-HSA-190371 FGFR3b ligand binding and activation
R-HSA-190239 FGFR3 ligand binding and activation
R-HSA-1839130 Signaling by activated point mutants of FGFR3
R-HSA-5654741 Signaling by FGFR3
R-HSA-5654227 Phospholipase C-mediated cascade; FGFR3
R-HSA-5654706 FRS-mediated FGFR3 signaling
R-HSA-5654704 SHC-mediated cascade:FGFR3
R-HSA-2033514 FGFR3 mutant receptor activation
R-HSA-190236 Signaling by FGFR
R-HSA-5654732 Negative regulation of FGFR3 signaling
R-HSA-5654710 PI-3K cascade:FGFR3
R-HSA-5654708 Downstream signaling of activated FGFR3
R-HSA-8853338 Signaling by FGFR3 point mutants in cancer
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-5655332 Signaling by FGFR3 in disease
R-HSA-162582 Signal Transduction
R-HSA-1226099 Signaling by FGFR in disease
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5663202 Diseases of signal transduction
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-1643685 Disease
R-HSA-109704 PI3K Cascade
R-HSA-2219528 PI3K/AKT Signaling in Cancer
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-199418 Negative regulation of the PI3K/AKT network
R-HSA-5683057 MAPK family signaling cascades
R-HSA-112399 IRS-mediated signalling
R-HSA-74751 Insulin receptor signalling cascade
R-HSA-2428928 IRS-related events triggered by IGF1R
R-HSA-74752 Signaling by Insulin receptor
R-HSA-2428924 IGF1R signaling cascade
R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
R-HSA-2038386 Dimerization of FGFR3 t(4;14) translocation mutants
R-HSA-2033476 Dimerization of FGFR3 point mutants with enhanced kinase activity
R-HSA-2012084 Constitutive dimerization of FGFR3 cysteine mutants
R-HSA-8853317 FGFR3 fusions dimerize
R-HSA-2038387 Autocatalytic phosphorylation of FGFR3 t(4;14) translocation mutants
R-HSA-2033485 Autocatalytic phosphorylation of FGFR3 point mutants with enhanced kinase activity
R-HSA-2012082 Autocatalytic phosphorylation of FGFR3 cysteine mutants
R-HSA-8853309 Autocatalytic phosphorylation of FGFR3 fusions
R-HSA-8853310 Activated FGFR3 fusions bind FRS2
R-HSA-2077420 FGFR3 mutants bind and are inactivated by tyrosine kinase inhibitors
R-HSA-5655244 Activated FGFR3 mutants bind PLCG1
R-HSA-5655262 Activated FGFR3 mutants bind FRS2
R-HSA-5655247 p-4Y-PLCG1 dissociates from activated FGFR3 mutants
R-HSA-8853314 Activated FGFR3 fusions:p-FRS2 bind GRB2-SOS1
R-HSA-8853316 Activated FGFR3 fusions:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-8853315 Activated FGFR3 fusions phosphorylate FRS2
R-HSA-5655295 Activated FGFR3 mutants:p-FRS2 binds GRB2-SOS1
R-HSA-5655315 Activated FGFR3 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5655270 Activated FGFR3 mutants phosphorylate FRS2
R-HSA-5655243 Activated FGFR3 mutants phosphorylate PLCG1
R-HSA-8853308 Activated FGFR3 fusions:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5655285 Activated FGFR3 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-8853307 FGFR3 fusions:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5655277 Activated FGFR3 mutants:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-8853323 Activated FGFR3 fusion-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5655289 Activated FGFR3 mutant-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-2033515 t(4;14) translocations of FGFR3
R-HSA-1839130 Signaling by activated point mutants of FGFR3
R-HSA-8853334 Signaling by FGFR3 fusions in cancer
R-HSA-2033514 FGFR3 mutant receptor activation
R-HSA-5655332 Signaling by FGFR3 in disease
R-HSA-8853338 Signaling by FGFR3 point mutants in cancer
R-HSA-1226099 Signaling by FGFR in disease
R-HSA-5663202 Diseases of signal transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: D3DVP9, D3DVQ0, FGFR3_HUMAN, JTK4, NM_000142, NP_000133, P22607, Q14308, Q16294, Q16608, Q59FL9
UCSC ID: uc003gdr.3
RefSeq Accession: NM_000142
Protein: P22607 (aka FGFR3_HUMAN or FGR3_HUMAN)
CCDS: CCDS3353.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FGFR3:
achondroplasia (Achondroplasia)
craniosynostosis (FGFR Craniosynostosis Syndromes Overview)
hypochondroplasia (Hypochondroplasia)
muenke (Muenke Syndrome)
td (Thanatophoric Dysplasia)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000142.4
exon count: 18CDS single in 3' UTR: no RNA size: 4304
ORF size: 2421CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 5021.00frame shift in genome: no % Coverage: 99.61
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.