About   Help   FAQ
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
  • Alliance
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
    UniProt: P11362

  • Chr Location
    8p11.23; chr8:38411138-38468834 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    255 phenotypes from 36 alleles in 38 genetic backgrounds
    82 phenotypes from multigenic genotypes
    5 images
    172 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.
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
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
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 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
    less
    • SNPs within 2kb
      240 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 284
      Genomic 12
      cDNA 242
      Primer pair 27
      Other 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-9776, MGD-MRK-9781, MGD-MRK-9833, MGI:2142774, MGI:2662561, MGI:3836280
    References
    more
    • Summaries
      All 515
      Developmental Gene Expression 249
      Diseases 7
      Gene Ontology 39
      Phenotypes 172
    • 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:256662 Kawakami K, et al., Persistent fibroblast growth factor 23 signalling in the parathyroid glands for secondary hyperparathyroidism in mice with chronic kidney disease. Sci Rep. 2017 Jan 17;7(None):40534

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory