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Fgf23 Gene Detail
Summary
  • Symbol
    Fgf23
  • Name
    fibroblast growth factor 23
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891427
    NCBI Gene: 64654
  • Gene Overview
    MyGene.info: FGF23
Location & Maps
more
  • Sequence Map
    Chr6:127072902-127081408 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8507 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    FGF23, fibroblast growth factor 23
  • Vertebrate Orthologs
    11
  • Human Ortholog
    FGF23, fibroblast growth factor 23
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ADHR, FGFN, HPDR2, HYPF, PHPTC
  • Links
    NCBI Gene ID: 8074
    neXtProt AC: NX_Q9GZV9

  • Chr Location
    12p13.3; chr12:4368227-4379728 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 10771
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;2 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: FGF23
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Fgf23 mouse models; 1 with human FGF23 associations

Human Disease Mouse Models
       Hypophosphatemic Rickets, Autosomal Dominant; ADHR   OMIM: 193100 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    57 phenotypes from 4 alleles in 6 genetic backgrounds
    50 phenotypes from multigenic genotypes
    2 images
    32 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
    7
  • Targeted
    6
  • Transgenic
    1
  • Incidental Mutations
Homozygous mutant mice are severely growth retarded and die prematurely. They exhibit hypophosphatemia, abnormal vitamin D metabolism, renal defects, skeletal defects, and are infertile.
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 OTTMUSG00000056344 VEGA Gene Model | MGI Sequence Detail 8507 C57BL/6J ±  kb
transcript OTTMUST00000139247 VEGA | MGI Sequence Detail 1814 Not Applicable  
polypeptide OTTMUSP00000073088 VEGA | MGI Sequence Detail 251 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    109 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000007493 fibroblast growth factor 23
  • InterPro Domains
    IPR008996 Cytokine, IL-1-like
    IPR028304 Fibroblast growth factor 23
    IPR002209 Fibroblast growth factor family
Molecular
Reagents
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  • All nucleic 8
    cDNA 5
    Primer pair 2
    Other 1

    Microarray probesets 2
References
more
  • Summaries
    All 73
    Developmental Gene Expression 12
    Diseases 5
    Gene Ontology 8
    Phenotypes 32
  • Earliest
    J:65463 White KE, et al., Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000 Nov;26(3):345-8
  • Latest
    J:223412 Lysaght AC, et al., FGF23 deficiency leads to mixed hearing loss and middle ear malformation in mice. PLoS One. 2014;9(9):e107681

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory