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Fgfr1 Gene Detail
Summary
  • Symbol
    Fgfr1
  • Name
    fibroblast growth factor receptor 1
  • Synonyms
    Eask, Fgfr-1, FGFR-I, Flt-2, Hspy
  • Feature Type
    protein coding gene
  • IDs
    MGI:95522
    NCBI Gene: 14182
Location & Maps
more
  • Sequence Map
    Chr8:25513654-25575718 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      62065 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 14.12 cM
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    FGFR1, fibroblast growth factor receptor 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    FGFR1, fibroblast growth factor receptor 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BFGFR, bFGF-R-1, CD331, CEK, ECCL, FGFBR, FGFR-1, FLG, FLT2, FLT-2, HBGFR, HH2, HRTFDS, KAL2, N-SAM, OGD
  • Links
    NCBI Gene ID: 2260
    neXtProt AC: NX_P11362

  • Chr Location
    8p11.23-p11.22; chr8:38411138-38468834 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Fgfr1 mouse models; 6 with human FGFR1 associations

Human Disease Mouse Models
       Pfeiffer Syndrome   OMIM: 101600 View 2 models
       Otitis Media, Susceptibility to   OMIM: 166760 View 2 models
       Encephalocraniocutaneous Lipomatosis; ECCL   OMIM: 613001
Hypogonadotropic Hypogonadism 2 with or without Anosmia; HH2   OMIM: 147950
Jackson-Weiss Syndrome; JWS   OMIM: 123150
Osteoglophonic Dysplasia; OGD   OMIM: 166250
Trigonocephaly 1; TRIGNO1   OMIM: 190440
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    210 phenotypes from 31 alleles in 30 genetic backgrounds
    72 phenotypes from multigenic genotypes
    1 images
    156 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
    280
  • Chemically induced (ENU)
    1
  • Gene trapped
    235
  • Spontaneous
    1
  • Targeted
    39
  • Transgenic
    4
  • Incidental Mutations
Homozygotes for targeted null mutations die around gastrulation and show defective patterning of axial structures. Hypomorphic and selectively ablated mutations exhibit a wide range of abnormalities affecting diverse structures.
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 OTTMUSG00000031031 VEGA Gene Model | MGI Sequence Detail 62065 C57BL/6J ±  kb
transcript OTTMUST00000076866 VEGA | MGI Sequence Detail 5025 Not Applicable  
polypeptide OTTMUSP00000040525 VEGA | MGI Sequence Detail 822 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    240 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
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  • All nucleic 282
    Genomic 12
    cDNA 241
    Primer pair 26
    Other 3

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-9776, MGD-MRK-9781, MGD-MRK-9833, MGI:2142774, MGI:2662561, MGI:3836280
References
more
  • Summaries
    All 444
    Developmental Gene Expression 230
    Diseases 9
    Gene Ontology 35
    Phenotypes 156
  • Earliest
    J:29471 Ruta M, et al., Receptor for acidic fibroblast growth factor is related to the tyrosine kinase encoded by the fms-like gene (FLG). Proc Natl Acad Sci U S A. 1989 Nov;86(22):8722-6
  • Latest
    J:233763 Karpinski BA, et al., A cellular and molecular mosaic establishes growth and differentiation states for cranial sensory neurons. Dev Biol. 2016 Jul 15;415(2):228-41

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
09/20/2016
MGI 6.05
The Jackson Laboratory