Homo sapiens Gene: FGF23
Summary
InnateDB Gene IDBG-12968.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FGF23
Gene Name fibroblast growth factor 23
Synonyms ADHR; FGFN; HPDR2; HYPF; PHPTC;
Species Homo sapiens
Ensembl Gene ENSG00000118972
Encoded Proteins
fibroblast growth factor 23
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:4368227-4379728
Strand Reverse strand
Band p13.32
Transcripts
ENST00000237837 ENSP00000237837
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005104 fibroblast growth factor receptor binding
GO:0005105 type 1 fibroblast growth factor receptor binding
GO:0005515 protein binding
GO:0008083 growth factor activity
Biological Process
GO:0006796 phosphate-containing compound metabolic process
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0008286 insulin receptor signaling pathway
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0010966 regulation of phosphate transport
GO:0010980 positive regulation of vitamin D 24-hydroxylase activity
GO:0030154 cell differentiation
GO:0030500 regulation of bone mineralization
GO:0030502 negative regulation of bone mineralization
GO:0030643 cellular phosphate ion homeostasis
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0042359 vitamin D metabolic process
GO:0042369 vitamin D catabolic process
GO:0045087 innate immune response
GO:0045668 negative regulation of osteoblast differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046888 negative regulation of hormone secretion
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0048015 phosphatidylinositol-mediated signaling
GO:0055062 phosphate ion homeostasis
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0090080 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Signaling by FGFR in disease pathway
Signaling by FGFR3 mutants pathway
Signaling by FGFR mutants pathway
Activated point mutants of FGFR2 pathway
Signalling by NGF pathway
Signaling by EGFR in Cancer pathway
PI3K/AKT activation pathway
Downstream signaling of activated FGFR pathway
FRS2-mediated cascade pathway
Phospholipase C-mediated cascade pathway
PI-3K cascade pathway
PI3K events in ERBB2 signaling pathway
DAP12 signaling pathway
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) pathway
Signaling by EGFR pathway
Role of LAT2/NTAL/LAB on calcium mobilization pathway
Constitutive PI3K/AKT Signaling in Cancer pathway
FGFR2c ligand binding and activation pathway
Innate Immune System pathway
Signaling by ERBB4 pathway
Signaling by FGFR1 mutants pathway
Signaling by SCF-KIT pathway
Fc epsilon receptor (FCERI) signaling pathway
Signal Transduction pathway
PI3K Cascade pathway
FGFR1c ligand binding and activation pathway
IRS-mediated signalling pathway
Adaptive Immune System pathway
Immune System pathway
Downstream signal transduction pathway
FGFR3 ligand binding and activation pathway
Insulin receptor signalling cascade pathway
Klotho-mediated ligand binding pathway
NGF signalling via TRKA from the plasma membrane pathway
IRS-related events triggered by IGF1R pathway
SHC-mediated cascade pathway
FGFR3c ligand binding and activation pathway
IRS-related events pathway
FGFR1c and Klotho ligand binding and activation pathway
Signaling by FGFR2 mutants pathway
IGF1R signaling cascade pathway
PI3K/AKT Signaling in Cancer pathway
Signaling by FGFR pathway
PIP3 activates AKT signaling pathway
Signaling by PDGF pathway
Signaling by Insulin receptor pathway
Signaling by ERBB2 pathway
FGFR2 ligand binding and activation pathway
FGFR ligand binding and activation pathway
Negative regulation of FGFR signaling pathway
Signaling by the B Cell Receptor (BCR) pathway
GAB1 signalosome pathway
Signaling by activated point mutants of FGFR3 pathway
Signaling by activated point mutants of FGFR1 pathway
Downstream signaling events of B Cell Receptor (BCR) pathway
FGFR4 ligand binding and activation pathway
FGFR1 ligand binding and activation pathway
Disease pathway
PI3K events in ERBB4 signaling pathway
DAP12 interactions pathway
KEGG
MAPK signaling pathway pathway
Regulation of actin cytoskeleton pathway
Pathways in cancer pathway
Melanoma pathway
INOH
GPCR signaling pathway
FGF signaling pathway pathway
PID BIOCARTA
PID NCI
FGF signaling pathway
Cross-References
SwissProt Q9GZV9
TrEMBL
UniProt Splice Variant
Entrez Gene 8074
UniGene Hs.287370
RefSeq NM_020638
HUGO HGNC:3680
OMIM 605380
CCDS CCDS8526
HPRD
IMGT
EMBL AB037973 AB047858 AF263537 AY358323 AY566236 BC069333 BC096713 BC098147 BC098252
GenPept AAG09917 AAH69333 AAH96713 AAH98147 AAH98252 AAQ88689 AAS59157 BAB13477 BAB55889
RNA Seq Atlas 8074