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

Gene ID: 8074, updated on 13-Jan-2020

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
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

Genomic context

See FGF23 in Genome Data Viewer
Location:
12p13.32
Exon count:
3
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (4368227..4379712, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4477393..4488894, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene CCND2 antisense RNA 1 Neighboring gene cyclin D2 Neighboring gene ribosomal protein S15 pseudogene 7 Neighboring gene TP53 induced glycolysis regulatory phosphatase Neighboring gene fibroblast growth factor 6 Neighboring gene Sharpr-MPRA regulatory region 2870

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
type 1 fibroblast growth factor receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cellular phosphate ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cellular response to interleukin-6 IEA
Inferred from Electronic Annotation
more info
 
cellular response to leptin stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to parathyroid hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to vitamin D IEA
Inferred from Electronic Annotation
more info
 
fibroblast growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of bone mineralization IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of hormone secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of osteoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
phosphate ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
 
positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
positive regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
positive regulation of vitamin D 24-hydroxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
regulation of phosphate transport IDA
Inferred from Direct Assay
more info
PubMed 
response to magnesium ion IEA
Inferred from Electronic Annotation
more info
 
response to sodium phosphate IEA
Inferred from Electronic Annotation
more info
 
vitamin D catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
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)

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
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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