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Fgfr2 Gene Detail
Summary
  • Symbol
    Fgfr2
  • Name
    fibroblast growth factor receptor 2
  • Synonyms
    Bek, Fgfr-2, Fgfr7, Fgfr-7, KGFRTr, svs
  • Feature Type
    protein coding gene
  • IDs
    MGI:95523
    NCBI Gene: 14183
Location & Maps
more
  • Sequence Map
    Chr7:130162451-133123350 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2960900 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 73.19 cM
  • Mapping Data
    14 experiments
Homology
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  • Human Ortholog
    FGFR2, fibroblast growth factor receptor 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    FGFR2, fibroblast growth factor receptor 2
    Orthology source: HomoloGene
  • Synonyms
    BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, KGFR, K-SAM, TK14, TK25
  • Links
    NCBI Gene ID: 2263
    neXtProt AC: NX_P21802

  • Chr Location
    10q26; chr10:121478330-121598656 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with Fgfr2 mouse models; 11 with human FGFR2 associations

Human Disease Mouse Models
       Apert Syndrome   OMIM: 101200 View 5 models
Beare-Stevenson Cutis Gyrata Syndrome; BSTVS   OMIM: 123790 View 1 model
Crouzon Syndrome   OMIM: 123500 View 4 models
Pfeiffer Syndrome   OMIM: 101600 View 1 model
       Antley-Bixler Syndrome without Genital Anomalies or Disordered Steroidogenesis;   OMIM: 207410
Bent Bone Dysplasia Syndrome; BBDS   OMIM: 614592
Gastric Cancer   OMIM: 613659
Jackson-Weiss Syndrome; JWS   OMIM: 123150
Lacrimoauriculodentodigital Syndrome; LADD   OMIM: 149730
Saethre-Chotzen Syndrome; SCS   OMIM: 101400
Scaphocephaly, Maxillary Retrusion, and Mental Retardation   OMIM: 609579
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    11 with disease annotations
  • References
    15 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    332 phenotypes from 26 alleles in 36 genetic backgrounds
    75 phenotypes from multigenic genotypes
    28 images
    195 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
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
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    116
  • Chemically induced (ENU)
    2
  • Gene trapped
    79
  • Spontaneous
    1
  • Targeted
    31
  • Transgenic
    3
  • Incidental Mutations
Mice homozygous for null mutations die as embryos. Isoform IIIb deficient mutants die at birth with defects in multiple organs and tissues. Isoform IIIc deficient mutants have defects in osteoblast and chondrocyte lineages, producing dwarfism.
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 OTTMUSG00000031222 VEGA Gene Model | MGI Sequence Detail 2960900 C57BL/6J ±  kb
transcript OTTMUST00000077355 VEGA | MGI Sequence Detail 3323 Not Applicable  
polypeptide OTTMUSP00000040881 VEGA | MGI Sequence Detail 840 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    14789 from dbSNP Build 142
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 925
    Genomic 4
    cDNA 886
    Primer pair 29
    Other 6

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-14668, MGD-MRK-1537, MGD-MRK-9777, MGD-MRK-9780, MGD-MRK-9782, MGD-MRK-9785, MGI:2142159, MGI:2142264, MGI:98454
References
more
  • Summaries
    All 526
    Developmental Gene Expression 320
    Diseases 15
    Gene Ontology 52
    Phenotypes 195
  • Earliest
    J:9441 Shukri NM, et al., Recessive mutation in a standard recombinant-inbred line of mice affects seminal vesicle shape. Genet Res. 1988 Aug;52(1):27-32
  • Latest
    J:233758 Pfaff MJ, et al., FGFR2c-mediated ERK-MAPK activity regulates coronal suture development. Dev Biol. 2016 Jul 15;415(2):242-50

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
08/17/2016
MGI 6.05
The Jackson Laboratory