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    FGF23 fibroblast growth factor 23 [ Homo sapiens (human) ]

    Gene ID: 8074, updated on 27-Nov-2024

    Summary

    Official Symbol
    FGF23provided by HGNC
    Official Full Name
    fibroblast growth factor 23provided by HGNC
    Primary source
    HGNC:HGNC:3680
    See related
    Ensembl:ENSG00000118972 MIM:605380; AllianceGenome:HGNC:3680
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ADHR; FGFN; HYPF; HFTC2; HPDR2; PHPTC
    Summary
    This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See FGF23 in Genome Data Viewer
    Location:
    12p13.32
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (4368227..4379712, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (4375010..4386480, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4477393..4488878, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene CCND2 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:4387997-4388189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4389371-4390328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4402781-4403282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4403283-4403782 Neighboring gene cyclin D2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4429971-4430624 Neighboring gene ribosomal protein S15 pseudogene 7 Neighboring gene TP53 induced glycolysis regulatory phosphatase Neighboring gene Sharpr-MPRA regulatory region 12719 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4549412-4550163 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4550164-4550914 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4550915-4551665 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4559670-4560372 Neighboring gene fibroblast growth factor 6 Neighboring gene Sharpr-MPRA regulatory region 2870 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4618390-4619024 Neighboring gene FERRY endosomal RAB5 effector complex subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5825 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4647270-4647879

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal dominant hypophosphatemic rickets
    MedGen: C0342642 OMIM: 193100 GeneReviews: Not available
    Compare labs
    Tumoral calcinosis, hyperphosphatemic, familial, 2
    MedGen: C4693863 OMIM: 617993 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Common genetic variants associate with serum phosphorus concentration.
    EBI GWAS Catalog
    Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables type 1 fibroblast growth factor receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to interleukin-6 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to leptin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to parathyroid hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to vitamin D IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fibroblast growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular phosphate ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of bone mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of hormone secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phosphate ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of vitamin D 24-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of phosphate transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to magnesium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to sodium phosphate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vitamin D catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    fibroblast growth factor 23
    Names
    phosphatonin
    tumor-derived hypophosphatemia inducing factor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007087.1 RefSeqGene

      Range
      5017..16502
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020638.3NP_065689.1  fibroblast growth factor 23 precursor

      See identical proteins and their annotated locations for NP_065689.1

      Status: REVIEWED

      Source sequence(s)
      AB047858, AF263537
      Consensus CDS
      CCDS8526.1
      UniProtKB/Swiss-Prot
      Q4V758, Q9GZV9
      Related
      ENSP00000237837.1, ENST00000237837.2
      Conserved Domains (1) summary
      cd00058
      Location:40160
      FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      4368227..4379712 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      4375010..4386480 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)