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Fgfr3 Gene Detail
Summary
  • Symbol
    Fgfr3
  • Name
    fibroblast growth factor receptor 3
  • Synonyms
    Fgfr-3, HBGFR, sam3
  • Feature Type
    protein coding gene
  • IDs
    MGI:95524
    NCBI Gene: 14184
Location & Maps
more
  • Sequence Map
    Chr5:33721674-33737067 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      15394 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    FGFR3, fibroblast growth factor receptor 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FGFR3, fibroblast growth factor receptor 3
    Orthology source: HomoloGene
  • Synonyms
    ACH, CD333, CEK2, HSFGFR3EX, JTK4
  • Links
    NCBI Gene ID: 2261
    neXtProt AC: NX_P22607

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

Human Diseases
more
  • Diseases
    5 with Fgfr3 mouse models; 14 with human FGFR3 associations

Human Disease Mouse Models
       Achondroplasia; ACH   OMIM: 100800 View 8 models
Hypochondroplasia; HCH   OMIM: 146000 View 1 "NOT" model
Muenke Syndrome; MNKES   OMIM: 602849 View 6 models
Thanatophoric Dysplasia, Type I; TD1   OMIM: 187600 View 2 models
Thanatophoric Dysplasia, Type II; TD2   OMIM: 187601 View 2 models
       Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans;   OMIM: 616482
Bladder Cancer   OMIM: 109800
Camptodactyly, Tall Stature, and Hearing Loss Syndrome   OMIM: 610474
Cervical Cancer   OMIM: 603956
Colorectal Cancer; CRC   OMIM: 114500
Crouzon Syndrome with Acanthosis Nigricans; CAN   OMIM: 612247
Lacrimoauriculodentodigital Syndrome; LADD   OMIM: 149730
Nevus, Epidermal   OMIM: 162900
Testicular Germ Cell Tumor; TGCT   OMIM: 273300
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    13 with disease annotations
  • References
    19 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    196 phenotypes from 25 alleles in 23 genetic backgrounds
    35 phenotypes from multigenic genotypes
    13 images
    102 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    39
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Radiation induced
    4
  • Spontaneous
    2
  • Targeted
    25
  • Transgenic
    5
  • Genomic Mutations
    8 involving Fgfr3
  • Incidental Mutations
Mutant alleles generally cause skeletal deformities, with some causing decreased body size, premature death, or hearing loss due to developmental defects of the ear.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021524 VEGA Gene Model | MGI Sequence Detail 15394 C57BL/6J ±  kb
transcript OTTMUST00000112075 VEGA | MGI Sequence Detail 4150 Not Applicable  
polypeptide OTTMUSP00000062900 VEGA | MGI Sequence Detail 801 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    51 from dbSNP Build 137
  • PCR
  • RFLP
Protein
Information
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Molecular
Reagents
less
  • All nucleic 58
    Genomic 4
    cDNA 32
    Primer pair 20
    Other 2

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-9778, MGD-MRK-9783
References
more
  • Summaries
    All 309
    Developmental Gene Expression 175
    Diseases 19
    Gene Ontology 28
    Phenotypes 102
  • 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:228212 Cinque L, et al., FGF signalling regulates bone growth through autophagy. Nature. 2015 Dec 10;528(7581):272-5

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
02/02/2016
MGI 6.02
The Jackson Laboratory