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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

Protein SuperFamily: fibroblast growth factor receptor
Gene Tree: Fgfr3

Human
homologs
Human Homolog FGFR3, fibroblast growth factor receptor 3
NCBI Gene ID 2261
neXtProt AC  NX_P22607
Human Synonyms  ACH, CD333, CEK2, HSFGFR3EX, JTK4
Human Chr (Location)  4p16.3; chr4:1793299-1808872 (+)  GRCh38
Disease Associations  (12) Diseases Associated with Human FGFR3
Mutations,
alleles, and
phenotypes
All mutations/alleles(30) : Chemically induced (ENU)(1) Radiation induced(3) Spontaneous(1) Targeted(25)
Genomic Mutations involving Fgfr3 (4)
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 Using Mouse Fgfr3 (5)    Alleles Annotated to Human Diseases(12)    Phenotype Images(12)
Interactions
Fgfr3 interacts with 272 markers (Mir1a-1, Mir1a-2, Mir10a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (98 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: (162 records)
Data Summary: Results (406)    Tissues (251)    Images (120)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 2
RNA in situ 281
Northern blot 8
RT-PCR 107
RNase protection 8
cDNA source data(27)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(56) Genomic(4) cDNA(30) Primer pair(20) Other(2)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000021524 (Evidence)
Ensembl Gene ModelENSMUSG00000054252 (Evidence)
Entrez Gene14184 (Evidence)
DFCITC1576655, TC1596578
DoTSDT.101351715, DT.101390235, DT.488578, DT.97413536
NIA Mouse Gene IndexU042629
EC2.7.10.1
Consensus CDS ProjectCCDS51464.1, CCDS51465.1, CCDS51466.1, CCDS57335.1
International Mouse Knockout Project StatusFgfr3
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(145) RefSeq(50) UniProt(19)
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:212481 Qi H, et al., FGFR3 induces degradation of BMP type I receptor to regulate skeletal development. Biochim Biophys Acta. 2014 Jul;1843(7):1237-47
All references(299)
Disease annotation references (11)
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
11/18/2014
MGI 5.20
The Jackson Laboratory