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Aliases for FGF23 Gene

Aliases for FGF23 Gene

  • Fibroblast Growth Factor 23 2 3 5
  • 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 Hypophosphatemic Rickets, Autosomal Dominant and Tumoral Calcinosis, Hyperphosphatemic, Familial. Among its related pathways are GPCR Pathway and RET signaling. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGF23 Gene

Genomics for FGF23 Gene

Regulatory Elements for FGF23 Gene

Enhancers for FGF23 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G004439 1.1 Ensembl ENCODE 10.8 -61.5 -61527 2.9 KLF17 FEZF1 EGR2 ZNF362 REST ZNF488 ZEB2 ZNF398 ZNF843 SMARCA4 C12orf4 FGF23 RAD51AP1 FGF6
GH12G004414 0.9 Ensembl ENCODE 11.4 -35.4 -35432 0.9 ZNF280D L3MBTL2 NRF1 BHLHE40 MNT REST EP300 GATA3 PBX2 IKZF1 FGF6 FGF23 RAD51AP1 C12orf4
GH12G004506 0.8 ENCODE 11.1 -127.5 -127489 1.8 ELF3 SOX13 FOXA2 TBL1XR1 SAP130 MLX ZNF644 YY1 ARID3A NCOR1 FGF6 FGF23 RAD51AP1 C12orf4 TIGAR
GH12G004305 0.7 dbSUPER 11 +74.0 74007 0.9 HDAC1 PKNOX1 RAD21 GATA3 POLR2A HES1 RNF2 L3MBTL2 NRF1 BHLHE40 FGF23 PIR44232 TIGAR
GH12G004302 0.7 ENCODE dbSUPER 11 +76.4 76374 1.8 SMARCA4 POLR2A RBFOX2 FGF23 PIR44232 TIGAR
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FGF23 on UCSC Golden Path with GeneCards custom track

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

Genes around FGF23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGF23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 Thr178
  • Modification sites at PhosphoSitePlus

Other Protein References for FGF23 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Assay Products

  • Cloud-Clone Corp Assay Kits for FGF23

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:0004713 protein tyrosine kinase activity TAS --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005104 fibroblast growth factor receptor binding IEA --
GO:0005105 type 1 fibroblast growth factor receptor binding IEA --
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

Human Phenotype Ontology for FGF23 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FGF23 Gene

MGI Knock Outs for FGF23:

Animal Model Products

  • Taconic Biosciences Mouse Models for FGF23

CRISPR Products

miRNA for FGF23 Gene

miRTarBase miRNAs that target FGF23

Inhibitory RNA Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FGF23 gene
Compartment Confidence
extracellular 5
golgi apparatus 4
plasma membrane 2
cytosol 2
cytoskeleton 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:0005788 endoplasmic reticulum lumen TAS --
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with FGF23: view

Pathways & Interactions for FGF23 Gene

SuperPathways for FGF23 Gene

SuperPathway Contained pathways
1 RET signaling
2 Downstream signaling of activated FGFR2
3 Apoptotic Pathways in Synovial Fibroblasts
4 Negative regulation of FGFR1 signaling
5 GPCR Pathway
genes like me logo Genes that share pathways with FGF23: view

Gene Ontology (GO) - Biological Process for FGF23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0006796 phosphate-containing compound metabolic process IEA --
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
GO:0010966 regulation of phosphate transport IDA 11409890
GO:0010980 positive regulation of vitamin D 24-hydroxylase activity IDA 15040831
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

(63) Drugs for FGF23 Gene - From: ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cholecalciferol Approved Nutra Fat-soluble secosteroids 875,869
Niacin Approved, Investigational Nutra Unknown, Agonist 923,923
Nicotinamide Approved Nutra 919,923
Sevelamer Approved Pharma 74
Calcitriol Approved Nutra TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist 210

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for FGF23 Gene

NURSA nuclear receptor signaling pathways regulating expression of FGF23 Gene:

FGF23

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).

Evidence on tissue expression from TISSUES for FGF23 Gene

  • Kidney(3)
  • Bone(2.8)
  • Blood(2.3)
  • Thyroid gland(2.3)
  • Urine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FGF23 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • kidney
  • liver
Pelvis:
  • pelvis
  • ureter
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FGF23: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia FGF23 34 35
  • 99.07 (n)
dog
(Canis familiaris)
Mammalia FGF23 34 35
  • 82.71 (n)
cow
(Bos Taurus)
Mammalia FGF23 34 35
  • 77.37 (n)
rat
(Rattus norvegicus)
Mammalia Fgf23 34
  • 74.5 (n)
mouse
(Mus musculus)
Mammalia Fgf23 34 16 35
  • 72.91 (n)
oppossum
(Monodelphis domestica)
Mammalia FGF23 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves FGF23 34 35
  • 62.65 (n)
lizard
(Anolis carolinensis)
Reptilia FGF23 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fgf23.1 34
  • 61.54 (n)
zebrafish
(Danio rerio)
Actinopterygii fgf23 34 35
  • 53.59 (n)
Species where no ortholog for FGF23 was found in the sources mined by GeneCards:
  • 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
rs104894342 Likely pathogenic, Tumoral calcinosis, hyperphosphatemic, familial (HFTC) [MIM:211900] 4,379,372(-) TCTAC(A/G)GTGAG reference, missense
rs104894343 Pathogenic, Tumoral calcinosis, hyperphosphatemic, familial (HFTC) [MIM:211900] 4,372,622(-) CTGCA(C/T)GGATT reference, missense
rs104894344 Pathogenic, Tumoral calcinosis, hyperphosphatemic, familial (HFTC) [MIM:211900] 4,370,713(-) CCACT(C/T)TCCTC reference, missense
rs104894347 Pathogenic, Hypophosphatemic rickets, autosomal dominant (ADHR) [MIM:193100] 4,370,572(-) ACGGC(A/G)GCACA reference, missense
rs193922702 Pathogenic, Hypophosphatemic rickets, autosomal dominant (ADHR) [MIM:193100] 4,370,563(-) CACCC(A/G)GAGCG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FGF23 Gene

Variant ID Type Subtype PubMed ID
nsv1040098 CNV gain 25217958
nsv483060 CNV loss 15286789
nsv557123 CNV gain 21841781

Variation tolerance for FGF23 Gene

Residual Variation Intolerance Score: 40.5% 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

Human Gene Mutation Database (HGMD)
FGF23
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGF23

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGF23 Gene

Disorders for FGF23 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
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, ECO:0000269 PubMed:11409890, ECO:0000269 PubMed:16638743}. 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 3 4 22 64
  2. FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. (PMID: 11409890) Bowe A.E. … Schiavi S.C. (Biochem. Biophys. Res. Commun. 2001) 3 4 22 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. 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) 3 22 64
  5. Early control of PTH and FGF23 in normophosphatemic CKD patients: a new target in CKD-MBD therapy? (PMID: 19965540) Oliveira R.B. … MoysAcs R.M. (Clin J Am Soc Nephrol 2010) 3 22 64

Products for FGF23 Gene

Sources for FGF23 Gene

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