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Fgfr3
Gene Detail
Symbol

Name
ID
Fgfr3
fibroblast growth factor receptor 3
MGI:95524
Synonyms
Fgfr-3, HBGFR, sam3
Feature Type
protein coding gene
Genetic Map
Chromosome 5
17.83 cM, cytoband B
Detailed Genetic Map ± 1 cM


Mapping data(12)
Sequence Map
Chr5:33721724-33737067 bp, + strand
From VEGA annotation of GRCm38

  15344 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55437  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: FGFR3
Protein SuperFamily: fibroblast growth factor receptor
Gene Tree: Fgfr3

Human
homologs
FGFR3, fibroblast growth factor receptor 3
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 2261
neXtProt AC: NX_P22607

Human Synonyms: ACH, CD333, CEK2, HSFGFR3EX, JTK4

Human Chr (Location): 4p16.3; chr4:1793299-1808872 (+)  GRCh38.p2

Disease Associations: (12) Diseases Associated with Human FGFR3

Mutations,
alleles, and
phenotypes
All mutations/alleles(34) : Chemically induced (ENU)(1) Radiation induced(4) Spontaneous(1) Targeted(25) Transgenic(3)
Genomic Mutations involving Fgfr3 (5)
Incidental mutations (data from Mutagenetix , APF )
 
Mutant alleles generally cause skeletal deformities, with some causing decreased body size, premature death, or hearing loss due to developmental defects of the ear.
 
Human Diseases Modeled in Mice Using Fgfr3 (4)    Mutations Annotated to Human Diseases (15)    Phenotype Images(17)
Interactions
Fgfr3 interacts with 271 markers (Mir1a-1, Mir1a-2, Mir10a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (99 annotations)
Process alveolar secondary septum development, apoptotic process, ...
Component cell surface, cytoplasm, ...
Function ATP binding, fibroblast growth factor-activated receptor activity, ...
External Resources: FuncBase
Expression
Literature Summary: (172 records)
Data Summary: Results (437)    Tissues (272)    Images (122)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 4
RNA in situ 310
Northern blot 8
RT-PCR 107
RNase protection 8
cDNA source data(27)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA FGFR3 ; Xenbase fgfr3 ; ZFIN fgfr3    NEW 
Molecular
reagents
All nucleic(58) Genomic(4) cDNA(32) Primer pair(20) Other(2)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000021524 (Evidence)
Ensembl Gene Model ENSMUSG00000054252 (Evidence)
Entrez Gene 14184 (Evidence)
DFCI TC1576655, TC1596578
DoTS DT.101351715, DT.101390235, DT.488578, DT.97413536
NIA Mouse Gene Index U042629
EC 2.7.10.1
Consensus CDS Project CCDS51464.1, CCDS51465.1, CCDS51466.1, CCDS57335.1
International Mouse Phenotyping Consortium Status Fgfr3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021524 VEGA Gene Model | MGI Sequence Detail 15344 C57BL/6J ±  kb
transcript OTTMUST00000112075 VEGA | MGI Sequence Detail 4150 Not Applicable 
polypeptide OTTMUSP00000062900 VEGA | MGI Sequence Detail 801 Not Applicable 

For the selected sequences
All sequences(136) RefSeq(50) UniProt(10)
Polymorphisms
All PCR and RFLP(4) : PCR(2) RFLP(2) SNPs within 2kb(51 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013151 Immunoglobulin
InterPro IPR013098 Immunoglobulin I-set
InterPro IPR007110 Immunoglobulin-like domain
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR003598 Immunoglobulin subtype 2
InterPro IPR017441 Protein kinase, ATP binding site
InterPro IPR000719 Protein kinase, catalytic domain
InterPro IPR011009 Protein kinase-like domain
InterPro IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
InterPro IPR008266 Tyrosine-protein kinase, active site
InterPro IPR020635 Tyrosine-protein kinase, catalytic domain
InterPro IPR016248 Tyrosine-protein kinase, fibroblast growth factor receptor
Protein Ontology PR:000001450 fibroblast growth factor receptor 3
References
(Earliest) J:30010 Avivi A, et al., Flg-2, a new member of the family of fibroblast growth factor receptors [published erratum appears in Oncogene 1992 Apr;7(4):823]. Oncogene. 1991 Jun;6(6):1089-92
(Latest) J:219364 Zhou ZQ, et al., Mutant activated FGFR3 impairs endochondral bone growth by preventing SOX9 downregulation in differentiating chondrocytes. Hum Mol Genet. 2015 Mar 15;24(6):1764-73
All references(306)
Disease annotation references (13)
Other
accession IDs
MGD-MRK-9778, MGD-MRK-9783

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory