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Aliases for FGF23 Gene

Aliases for FGF23 Gene

  • Fibroblast Growth Factor 23 2 3
  • Phosphatonin 3 4
  • HYPF 3 4
  • Tumor-Derived Hypophosphatemia Inducing Factor 3
  • Tumor-Derived Hypophosphatemia-Inducing Factor 4
  • FGF-23 4
  • HPDR2 3
  • PHPTC 3
  • ADHR 3
  • FGFN 3

External Ids for FGF23 Gene

Previous GeneCards Identifiers for FGF23 Gene

  • GC12M004215
  • GC12M004369
  • GC12M004477

Summaries for FGF23 Gene

Entrez Gene Summary for FGF23 Gene

  • 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]

GeneCards Summary for FGF23 Gene

FGF23 (Fibroblast Growth Factor 23) is a Protein Coding gene. Diseases associated with FGF23 include tumoral calcinosis and familial tumoral calcinosis. Among its related pathways are PI3K-Akt signaling pathway and PI3K/AKT Signaling in Cancer. GO annotations related to this gene include growth factor activity and type 1 fibroblast growth factor receptor binding. An important paralog of this gene is FGF21.

UniProtKB/Swiss-Prot for FGF23 Gene

  • Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization.

Gene Wiki entry for FGF23 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGF23 Gene

Genomics for FGF23 Gene

Regulatory Elements for FGF23 Gene

Genomic Location for FGF23 Gene

Chromosome:
12
Start:
4,368,227 bp from pter
End:
4,379,728 bp from pter
Size:
11,502 bases
Orientation:
Minus strand

Genomic View for FGF23 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FGF23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGF23 Gene

Proteins for FGF23 Gene

  • Protein details for FGF23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZV9-FGF23_HUMAN
    Recommended name:
    Fibroblast growth factor 23
    Protein Accession:
    Q9GZV9
    Secondary Accessions:
    • Q4V758

    Protein attributes for FGF23 Gene

    Size:
    251 amino acids
    Molecular mass:
    27954 Da
    Quaternary structure:
    • Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by KL and heparan sulfate glycosaminoglycans that function as coreceptors (By similarity).

    Three dimensional structures from OCA and Proteopedia for FGF23 Gene

neXtProt entry for FGF23 Gene

Proteomics data for FGF23 Gene at MOPED

Post-translational modifications for FGF23 Gene

  • Following secretion this protein is inactivated by cleavage into a N-terminal fragment and a C-terminal fragment. The processing is effected by proprotein convertases
  • O-glycosylated by GALT3. Glycosylation is necessary for secretion; it blocks processing by proprotein convertases when the O-glycan is alpha 2,6-sialylated. Competition between proprotein convertase cleavage and block of cleavage by O-glycosylation determines the level of secreted active FGF23.
  • Glycosylation at Thr 178
  • Modification sites at PhosphoSitePlus

Other Protein References for FGF23 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for FGF23 Gene

Domains & Families for FGF23 Gene

Protein Domains for FGF23 Gene

Suggested Antigen Peptide Sequences for FGF23 Gene

Graphical View of Domain Structure for InterPro Entry

Q9GZV9

UniProtKB/Swiss-Prot:

FGF23_HUMAN :
  • Belongs to the heparin-binding growth factors family.
Family:
  • Belongs to the heparin-binding growth factors family.
genes like me logo Genes that share domains with FGF23: view

No data available for Gene Families for FGF23 Gene

Function for FGF23 Gene

Molecular function for FGF23 Gene

UniProtKB/Swiss-Prot Function:
Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization.

Gene Ontology (GO) - Molecular Function for FGF23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005105 type 1 fibroblast growth factor receptor binding IEA --
GO:0005515 protein binding --
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with FGF23: view
genes like me logo Genes that share phenotypes with FGF23: view

Animal Models for FGF23 Gene

MGI Knock Outs for FGF23:

Animal Model Products

miRNA for FGF23 Gene

miRTarBase miRNAs that target FGF23

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FGF23

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FGF23 Gene

Localization for FGF23 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGF23 Gene

Secreted. Note=Secretion is dependent on O-glycosylation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FGF23 Gene COMPARTMENTS Subcellular localization image for FGF23 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for FGF23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space ISS 22261194
GO:0005622 intracellular TAS --
GO:0005623 cell --
genes like me logo Genes that share ontologies with FGF23: view

Pathways & Interactions for FGF23 Gene

SuperPathways for FGF23 Gene

Superpath Contained pathways
1 Interleukin receptor SHC signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 PI3K/AKT Signaling in Cancer
4 SHC-mediated cascade-FGFR1
5 GPCR Pathway
genes like me logo Genes that share pathways with FGF23: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Growth Factors in human,mouse,rat

Gene Ontology (GO) - Biological Process for FGF23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0006796 phosphate-containing compound metabolic process --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007264 small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with FGF23: view

No data available for SIGNOR curated interactions for FGF23 Gene

Drugs & Compounds for FGF23 Gene

(25) Drugs for FGF23 Gene - From: NovoSeek, ClinicalTrials, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cholecalciferol Approved Nutra Fat-soluble secosteroids 755,762
Sevelamer Approved Pharma 69
Calcitriol Approved Nutra TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist 158
Ergocalciferol Approved Nutra 885
Heparin Approved, Investigational Pharma Antagonist 672,226

(5) Additional Compounds for FGF23 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,25 DIHYDROXY VITAMIN D3
25-hydroxyvitamin d
Creatinine
  • 1-Methylglycocyamidine
  • 1-Methylhydantoin-2-imide
  • 2-Amino-1-methyl-1,5-dihydroimidazol-4-one
  • 2-Amino-1-methylimidazolin-4-one
  • Creatine anhydride
60-27-5
hydroxyapatite
phosphorus
  • Hittorf'S phosphorus
  • Phosphorous
  • Phosphorus-30
  • Red phosphorus
  • Violet phosphorus
7723-14-0
genes like me logo Genes that share compounds with FGF23: view

Transcripts for FGF23 Gene

mRNA/cDNA for FGF23 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FGF23 Gene

Fibroblast growth factor 23:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FGF23

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FGF23 Gene

No ASD Table

Relevant External Links for FGF23 Gene

GeneLoc Exon Structure for
FGF23
ECgene alternative splicing isoforms for
FGF23

Expression for FGF23 Gene

mRNA expression in normal human tissues for FGF23 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FGF23 Gene

This gene is overexpressed in Liver (x24.8) and Heart - Atrial Appendage (x17.2).

Protein differential expression in normal tissues from HIPED for FGF23 Gene

This gene is overexpressed in Heart (61.0) and Platelet (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FGF23 Gene



SOURCE GeneReport for Unigene cluster for FGF23 Gene Hs.287370

mRNA Expression by UniProt/SwissProt for FGF23 Gene

Q9GZV9-FGF23_HUMAN
Tissue specificity: Expressed in osteogenic cells particularly during phases of active bone remodeling. In adult trabecular bone, expressed in osteocytes and flattened bone-lining cells (inactive osteoblasts).
genes like me logo Genes that share expression patterns with FGF23: view

Protein tissue co-expression partners for FGF23 Gene

Primer Products

In Situ Assay Products

Orthologs for FGF23 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FGF23 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FGF23 35
  • 77.37 (n)
  • 79.42 (a)
FGF23 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FGF23 35
  • 82.71 (n)
  • 80.5 (a)
FGF23 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fgf23 35
  • 72.91 (n)
  • 70.52 (a)
Fgf23 16
Fgf23 36
  • 71 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FGF23 35
  • 99.07 (n)
  • 98.01 (a)
FGF23 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fgf23 35
  • 74.5 (n)
  • 71.71 (a)
oppossum
(Monodelphis domestica)
Mammalia FGF23 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves FGF23 35
  • 62.65 (n)
  • 58.8 (a)
FGF23 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FGF23 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fgf23.1 35
  • 61.54 (n)
  • 57.69 (a)
zebrafish
(Danio rerio)
Actinopterygii fgf23 35
  • 53.59 (n)
  • 41.44 (a)
fgf23 36
  • 30 (a)
OneToOne
Species with no ortholog for FGF23:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FGF23 Gene

ENSEMBL:
Gene Tree for FGF23 (if available)
TreeFam:
Gene Tree for FGF23 (if available)

Paralogs for FGF23 Gene

Paralogs for FGF23 Gene

genes like me logo Genes that share paralogs with FGF23: view

Variants for FGF23 Gene

Sequence variations from dbSNP and Humsavar for FGF23 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs3045697 -- 4,379,213(+) CACAC(-/AC)ACACA intron-variant
rs3782917 -- 4,373,887(-) CCTGC(A/G)TGGGA intron-variant
rs3812822 -- 4,380,069(+) TTATT(C/T)TGGTT upstream-variant-2KB
rs3832879 -- 4,372,733(-) GGATG(-/C/T)GCAAT intron-variant
rs4993065 -- 4,379,220(+) ACACA(A/C)ACACA intron-variant

Variation tolerance for FGF23 Gene

Residual Variation Intolerance Score: 40.49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.78; 16.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FGF23 Gene

HapMap Linkage Disequilibrium report
FGF23
Human Gene Mutation Database (HGMD)
FGF23

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FGF23 Gene

Disorders for FGF23 Gene

MalaCards: The human disease database

(49) MalaCards diseases for FGF23 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
tumoral calcinosis
  • calcinosis, tumoral
familial tumoral calcinosis
  • galnt3-cdg
tumoral calcinosis, hyperphosphatemic, familial
  • tumoral calcinosis, hyperphosphatemic
hyperphosphatemic familial tumoral calcinosis, fgf23-related
hypophosphatemic rickets, autosomal dominant
  • autosomal dominant hypophosphatemic rickets
- elite association
Search FGF23 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FGF23_HUMAN
  • Hypophosphatemic rickets, autosomal dominant (ADHR) [MIM:193100]: A disease characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. {ECO:0000269 PubMed:11062477}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Tumoral calcinosis, hyperphosphatemic, familial (HFTC) [MIM:211900]: A severe metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients manifest recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. {ECO:0000269 PubMed:15590700, ECO:0000269 PubMed:16030159, ECO:0000269 PubMed:16151858, ECO:0000269 PubMed:24680727}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FGF23

Genetic Association Database (GAD)
FGF23
Human Genome Epidemiology (HuGE) Navigator
FGF23
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FGF23
genes like me logo Genes that share disorders with FGF23: view

No data available for Genatlas for FGF23 Gene

Publications for FGF23 Gene

  1. Identification of a novel fibroblast growth factor, FGF-23, preferentially expressed in the ventrolateral thalamic nucleus of the brain. (PMID: 11032749) Yamashita T. … Itoh N. (Biochem. Biophys. Res. Commun. 2000) 2 23 67
  2. Oral phosphate supplementation corrects hypophosphatemia and normalizes plasma FGF23 and 25-hydroxyvitamin D3 levels in women with chronic metabolic acidosis. (PMID: 19449283) Domrongkitchaiporn S. … Krishnamra N. (Exp. Clin. Endocrinol. Diabetes 2010) 23 67
  3. Overview of the FGF23-Klotho axis. (PMID: 19626341) Kuro-o M. (Pediatr. Nephrol. 2010) 23 67
  4. Coronary calcifications in end-stage renal disease patients: a new link between osteoprotegerin, diabetes and body mass index? (PMID: 19816015) Cianciolo G. … Stefoni S. (Blood Purif. 2010) 23 67
  5. A prospective study of fibroblast growth factor-23 in children with chronic kidney disease. (PMID: 19929273) Magnusson P. … Swolin-Eide D. (Scand. J. Clin. Lab. Invest. 2010) 23 67

Products for FGF23 Gene

Sources for FGF23 Gene

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