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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
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:33721724-33737068 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 17.83 cM, cytoband B
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    51 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95524
protein coding gene Chr5:33721674-33737068 (.)
129S1/SvImJ MGP_129S1SvImJ_G0029452
protein coding gene Chr5:31916164-31931558 (+)
A/J MGP_AJ_G0029419
protein coding gene Chr5:30875395-30890789 (+)
AKR/J MGP_AKRJ_G0029368
protein coding gene Chr5:32069328-32084720 (+)
BALB/cJ MGP_BALBcJ_G0029429
protein coding gene Chr5:31405326-31420823 (+)
C3H/HeJ MGP_C3HHeJ_G0029151
protein coding gene Chr5:32107678-32123066 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029883
protein coding gene Chr5:33807791-33823185 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027120
protein coding gene Chr5:28676137-28691645 (+)
CAST/EiJ MGP_CASTEiJ_G0028560
protein coding gene Chr5:31189017-31206224 (+)
CBA/J MGP_CBAJ_G0029119
protein coding gene Chr5:34521869-34537263 (+)
DBA/2J MGP_DBA2J_G0029267
protein coding gene Chr5:31058380-31073768 (+)
FVB/NJ MGP_FVBNJ_G0029226
protein coding gene Chr5:30481106-30496500 (+)
LP/J MGP_LPJ_G0029352
protein coding gene Chr5:32340045-32355439 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029256
protein coding gene Chr5:35379105-35394499 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029916
protein coding gene Chr5:31587525-31602919 (+)
PWK/PhJ MGP_PWKPhJ_G0028285
protein coding gene Chr5:30189285-30204712 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028116
protein coding gene Chr5:31033523-31048918 (+)
WSB/EiJ MGP_WSBEiJ_G0028641
protein coding gene Chr5:31666099-31681487 (+)



Homology
more
  • Human Ortholog
    FGFR3, fibroblast growth factor receptor 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FGFR3, fibroblast growth factor receptor 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ACH, CD333, CEK2, HSFGFR3EX, JTK4
  • Links
    NCBI Gene ID: 2261
    neXtProt AC: NX_P22607
    UniProt: P22607

  • Chr Location
    4p16.3; chr4:1793299-1808872 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    5 with Fgfr3 mouse models; 11 with human FGFR3 associations

Human Disease Mouse Models
      
IDs
View 7 models
IDs
View 6 models
IDs
View 4 models
      
IDs
View 1 model
IDs
View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    14 with disease annotations
  • References
    16 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    207 phenotypes from 25 alleles in 23 genetic backgrounds
    39 phenotypes from multigenic genotypes
    14 images
    124 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14184 NCBI Gene Model | MGI Sequence Detail 15345 C57BL/6J ±  kb
    transcript NM_001359036 RefSeq | MGI Sequence Detail 4248 C57BL/6  
    polypeptide Q61851 UniProt | EBI | MGI Sequence Detail 801 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 61
      Genomic 4
      cDNA 34
      Primer pair 21
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-9778, MGD-MRK-9783
    References
    more
    • Summaries
      All 380
      Developmental Gene Expression 195
      Diseases 16
      Gene Ontology 31
      Phenotypes 124
    • Earliest
      J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
    • Latest
      J:263685 Kitami K, et al., BRCA1 and BRCA2 tumor suppressors in neural crest cells are essential for craniofacial bone development. PLoS Genet. 2018 May;14(5):e1007340

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory