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FLASH GENE
Symbol FGF23 contributors: mct/npt/pgu - updated : 22-08-2016
HGNC name fibroblast growth factor 23
HGNC id 3680
Corresponding disease
ADHR hypophosphatemic rickets
FTC2 familial tumoral calcinosis 2
Location 12p13.32      Physical location : 4.477.392 - 4.488.894
Synonym name
  • phosphatonin
  • tumor-derived hypophosphatemia-inducing factor
  • Synonym symbol(s) HPDR2, HYPF, FGF-23, PHPTC
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    text 54 kb telomeric of FGF6
    STRUCTURE 11.50 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D12S1050 - D12S1685 - CCND2 - D12S1725 - FGF23 - FGF6 - (PIR51 - DYRK4 - AKAP3 ) - D12S1624 - GALNT8 - KCNA6 - cen
    Authors ADHR Consortium (00)
    Text see FGF6
    Physical map
    LOC283440 12p13.33 hypothetical LOC283440 LOC341511 12p13.33 similar to 60S ribosomal protein L23a FKBP4 12p13.33 FK506 binding protein 4, 59kDa MDS028 12p13.33 uncharacterized hematopoietic stem/progenitor cells protein MDS028 NRIP2 12p13.33 nuclear receptor interacting protein 2 FOXM1 12p13 forkhead box M1 MGC13204 12p13.33 hypothetical protein MGC13204 TULP3 12p13 tubby like protein 3 TEAD4 12p13.3-p13.2 TEA domain family member 4 LOC387825 12 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein NET-5 12p13.33 transmembrane 4 superfamily member tetraspan NET-5 PP1057 12p13.3 hypothetical protein PP1057 LOC390280 12 similar to RIKEN cDNA 1110014F12 HRMT1L3 12p13.3 HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae) MGC4266 12p13.33 hypothetical protein MGC4266 C12orf6 12p13.3 chromosome 12 open reading frame 6 LOC160382 12p13.32 similar to Heat shock cognate 71 kDa protein LOC390281 12 similar to ribosomal protein L18; 60S ribosomal protein L18 CCND2 12p13.32 cyclin D2 C12orf5 12p13.3 chromosome 12 open reading frame 5 FGF23 12p13.3 fibroblast growth factor 23 FGF6 12p13.32 fibroblast growth factor 6 C12orf4 12p13.3 chromosome 12 open reading frame 4 PIR51 12p13.2-p13.1 chromosome 12 open reading frame 4 DYRK4 12p13.3 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 AKAP3 12p13 a kinase (PRKA) anchor protein 3 NDUFA9 12p13.3-p12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa GALNT8 12p13.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) KCNA6 12p13 potassium voltage-gated channel, shaker-related subfamily, member 6 KCNA1 12p13.32 potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) LOC390282 12 similar to eukaryotic translation initiation factor 3, subunit 5 (epsilon) KCNA5 12p13.32-p13.31 potassium voltage-gated channel, shaker-related subfamily, member 5 LOC387826 12 LOC387826 NTF3 12p13.31 neurotrophin 3 TMEM16B 12p13.3 transmembrane protein 16B VWF 12p13.1 von Willebrand factor
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 3018 - 251 - 2000 11032749
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus    
    Cardiovascularheart    
    Digestiveliver    
    Endocrineparathyroid    
     thyroid    
    Nervousbraindiencephalonthalamusnuclei 
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skeletonosteoblast Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • hydrophobic N terminus signal sequence
  • beta-barrel motif
  • two cysteine residues conserved in the FGF family but lacking the heparan-binding site of the FGF such as FGF1
  • a unique C terminal domain
  • isoforms Precursor
    HOMOLOGY
    intraspecies homolog to FGF19, FGF21
    Homologene
    FAMILY
  • heparin-binding growth factors family
  • FGF19 subfamily
  • CATEGORY regulatory , secretory , signaling growth factor , transport
    SUBCELLULAR LOCALIZATION extracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • FGF23 and AHSG proteins co-localized both in cytoplasm and nucleus, which suggests a possible reciprocal interactivity
  • basic FUNCTION
  • physiological regulator of phosphate homeostasis
  • acting as a hormone and regulating kidney functions
  • key humoral factor in phosphate homeostasis and skeletogenesis
  • hormone that regulates serum phosphate level in contrast to other FGF family members that work as local factors
  • hormone-like factor that is thought to play an important role in phosphate homeostasis
  • hormone that regulates serum phosphate and 1,25-dihydroxyvitamin D levels
  • hormone regulating phosphate and calcitriol metabolism, that has unveiled the mechanisms that coordinate these renal proximal tubule functions
  • reduces renal absorption of phosphate by downregulating the sodium-phosphate cotransporter SLC34A1
  • regulates phosphate homeostasis in kidney
  • bone-derived endocrine regulator of phosphate homeostasis which inhibits renal tubular phosphate reabsorption
  • play crucial roles in the regulation of phosphate homeostasis
  • hormone released primarily by osteocytes that regulates phosphate and vitamin D metabolism
  • bone/heart endocrine factor and may be an important mediator of cardiac Ca(2+) regulation and contractile function during chronic kidney disease
  • WNT-independent function of FGF23 in the regulation of phosphate homeostasis
  • FGF23, not KL, is a calcium-conserving hormone in the kidney
  • bone-derived hormone protecting against the potentially deleterious effects of hyperphosphatemia by suppression of phosphate reabsorption and of active vitamin D hormone synthesis in the kidney
  • acts independently on proximal and distal tubular epithelium
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    text tubular reabsorption of phosphate
    PATHWAY
    metabolism other
    signaling
  • renal FGF23-KL signaling, which is disrupted in chronic kidney disease, is essential for homeostatic control of mineral metabolism
  • a component
  • part of the FGF23-klotho axis (disorders of FGF23-klotho axis alter life span and are involved in senescence)
  • INTERACTION
    DNA
    RNA
    small molecule
  • polyP, an inorganic biomaterial used for bone regeneration, is able to stimulate FGF23 expression through activation of the FGFR pathway, suggesting a role for polyP in modulating mineral ion metabolism (PMIS: 23085229)
  • protein
  • binding to KL
  • induced expression of not only EGR1 but also NAB2 in the presence of Klotho
  • FGF23/KL signaling is not essential for the phosphaturic and anabolic functions of PTH
  • FGF23 binding to FGFR3 was enhanced in the presence of KL
  • apical membrane abundance of TRPV5 in renal distal tubules and thus renal calcium reabsorption are regulated by FGF23, which binds the FGF receptor-KL complex and activates a signaling cascade
  • PTH activates the orphan nuclear receptor NR4A2 to induce FGF23 transcription
  • AHSG is produced in bone, mainly in osteocytes, and its production is modulated by FGF23
  • cell & other
    REGULATION
    Other regulated by PHEX as part of a potential hormonal axis between bone and kidney that controls systemic phosphate homeostasis and mineralization
    regulated by PHEX and DMP1 (regulate FGF23 expression in osteocytes through a common pathway involving FGF receptor (FGFR) signaling)
    the regulation of FGF23 by both calcium and phosphorus appears to be fundamentally important in coordinating the serum levels of both mineral ions and ensuring that the calcium phosphorus product remains within a physiological range
    ASSOCIATED DISORDERS
    corresponding disease(s) ADHR , FTC2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in oncogenic hypophosphatemic osteomalacia tumors
    tumoral     --over  
    in hypophosphatemic linear nevus sebaceous syndrome
    constitutional     --over  
    elevated in patients with hypoparathyroidism and hyperphosphatemia and normalized along with normalized phosphate levels after recovery of parathyroid function
    constitutional     --over  
    in CKD (chronic kidney disease) could contribute directly to tissue injury in the heart, vessels and kidneys
    constitutional     --over  
    in autosomal dominant polycystic kidney disease, compared to non-diabetic and diabetic patients, and healthy volunteers
    Susceptibility
    Variant & Polymorphism
    Candidate gene independent predictor of progression of renal disease in patients with nondiabetic chronic kidney disease
    Marker
  • FGF23 measurements may be a sensitive early biomarker of disordered phosphorus metabolism in patients with chronic kidney disease and normal serum phosphate levels
  • Therapy target
    ANIMAL & CELL MODELS