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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FGF23 Gene

protein-coding   GIFtS: 61
GCID: GC12M004477

fibroblast growth factor 23
 Explore 68 diseases affiliated with
FGF23 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FGF23    

Aliases
for FGF23 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Fibroblast Growth Factor 231 2     Phosphatonin3
HYPF2 3     Tumor-Derived Hypophosphatemia Inducing Factor2
ADHR2 5     FGF-233
HPDR22 5     Phosphatonin3
PHPTC2 5     Tumor-Derived Hypophosphatemia-Inducing Factor3
FGFN2     

External Ids:    HGNC: 36801   Entrez Gene: 80742   Ensembl: ENSG000001189727   OMIM: 6053805   UniProtKB: Q9GZV93   

Export aliases for FGF23 gene to outside databases

Previous GC identifers: GC12M004215 GC12M004369 GC12M004347


Summaries
for FGF23 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for FGF23:
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)

UniProtKB/Swiss-Prot: FGF23_HUMAN, Q9GZV9
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 Wiki entry for FGF23 (Fibroblast growth factor 23)


Genomic Views
for FGF23 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009759.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FGF23 gene promoter:
         PPAR-alpha   TBP   NF-AT2   TFIID   NF-AT1   NF-AT   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FGF23 promoter sequence
   Search SABiosciences Chromatin IP Primers for FGF23

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FGF23


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13.3   Ensembl cytogenetic band:  12p13.32   HGNC cytogenetic band: 12p13

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M004477:  view genomic region     (about GC identifiers)

Start:
 4,477,393 bp from pter      End:
 4,488,894 bp from pter
Size:
 11,502 bases      Orientation:
 minus strand

Proteins
for FGF23 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: FGF23_HUMAN, Q9GZV9 (See protein sequence)
Recommended Name: Fibroblast growth factor 23 precursor  
Size: 251 amino acids; 27954 Da
Subunit: 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)
Subcellular location: Secreted. Note=Secretion is dependent on O-glycosylation
1 PDB 3D structure from and Proteopedia for FGF23:
2P39 (3D)    
Secondary accessions: Q4V758

Explore the universe of human proteins at neXtProt for FGF23: NX_Q9GZV9

Post-translational modifications:

  • Following secretion this protein is inactivated by cleavage into a N-terminal fragment and a C-terminal fragment. The
    • processing is effected by proprotein convertases1
  • 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 FGF231
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9GZV9

    • FGF23 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_065689.1  
    ENSEMBL proteins: 
     ENSP00000237837  
    Reactome Protein details: Q9GZV9
    Human Recombinant Protein Products: 
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    R&D Systems Recombinant & Natural Proteins for FGF23 (FGF-23)
    Enzo Life Sciences proteins for FGF23
    OriGene Purified Protein: FGF23
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    ProSpec Recombinant Protein for FGF23
    Uscn Proteins for FGF23

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space NAS--
    GO:0044421extracellular region part ----


    FGF23 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for FGF23

    Protein Domains /
    Families
    for FGF23 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FGF23 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR002348 IL1_HBGF
     IPR008996 Cytokine_IL1-like

    Graphical View of Domain Structure for InterPro Entry Q9GZV9

    ProtoNet protein and cluster: Q9GZV9

    UniProtKB/Swiss-Prot: FGF23_HUMAN, Q9GZV9
    Similarity: Belongs to the heparin-binding growth factors family


    Function
    for FGF23 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: FGF23_HUMAN, Q9GZV9
    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

         Summary:  

    During embryonic development, FGF23 as signaling molecule is secreted from the following cells: Endochondral Osteocytes in Sacral Vertebrae, Endochondral Osteocytes in Cervical Vertebrae (see all 8).

    It affects the following cells: Endochondral Osteocytes in Cervical Vertebrae, Endochondral Osteocytes in Autopod Periosteum (see all 8).

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FGF23
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate FGF23 (see all 9):
    hsa-miR-577 hsa-miR-34c-5p hsa-miR-449b hsa-miR-2278 hsa-miR-340 hsa-miR-449a hsa-miR-105 hsa-miR-34a
    SwitchGear 3'UTR luciferase reporter plasmid: FGF23 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FGF23 (see all 7)
    OriGene shRNA RFP: FGF23
    OriGene siRNA: FGF23
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FGF23

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: FGF23 (NM_020638)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FGF23 

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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005104fibroblast growth factor receptor binding ----
    GO:0005105type 1 fibroblast growth factor receptor binding IEA--
    GO:0005515protein binding ----
    GO:0008083growth factor activity IEA--


    FGF23 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for FGF23:
     Decreased G3BP1 protein expres  Decreased melanin production 

    Animal Models:
         Mouse knock-out Fgf23tm1Tyam for FGF23
         13 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Fgf23):
     cardiovascular system  digestive/alimentary  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  mortality/aging  renal/urinary system 
     reproductive system  respiratory system  skeleton 

    FGF23 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for FGF23 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/31 super-pathways (see all 31) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1FGFR2c binds to FGF
    8/17 pathways (see all 17)
    		FGFR2c binds to FGF1.00
    		FGFR4 ligand binding and activation0.73
    		FGFR2c ligand binding and activation1.00
    		FGFR1c ligand binding and activation0.71
    		FGFR3c ligand binding and activation0.79
    		Signaling by activated point mutants of FGFR10.71
    		FGFR3 ligand binding and activation0.79
    		FGFR1 ligand binding and activation0.59
    2Apoptotic Pathways in Synovial Fibroblasts
    8/14 pathways (see all 14)
    		Apoptotic Pathways in Synovial Fibroblasts1.00
    		ERK5 Signaling0.61
    		p53 Mediated Apoptosis0.84
    		eIF2 Pathway0.60
    		Mitochondrial Apoptosis0.73
    		Rac1 Pathway0.58
    		Telomerase Components in Cell Signaling0.72
    		Nuclear Receptor Activation by Vitamin-A0.57
    3Signaling by FGFR
    8/12 pathways (see all 12)
    		Signaling by FGFR1.00
    		DAP12 signaling0.83
    		Downstream signaling of activated FGFR0.92
    		Signaling by EGFR in Cancer0.83
    		Signaling by FGFR in disease0.91
    		DAP12 interactions0.76
    		Signaling by ERBB20.89
    		Signaling by PDGF0.72
    4PIP3 activates AKT signaling
    8/10 pathways (see all 10)
    		PI-3K cascade1.00
    		PI3K/AKT activation0.97
    		PIP3 activates AKT signaling1.00
    		GAB1 signalosome0.96
    		PI3K/AKT Signaling in Cancer1.00
    		Constitutive PI3K/AKT Signaling in Cancer0.88
    		PI3K events in ERBB2 signaling1.00
    		Signaling by SCF-KIT0.72
    5IRS-related events
    		IRS-related events1.00
    		Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.90
    		IRS-mediated signalling0.98
    		IGF1R signaling cascade0.90
    		Insulin receptor signalling cascade0.94
    		PI3K Cascade0.84
    		IRS-related events triggered by IGF1R0.93
    		Signaling by Insulin receptor0.74

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/59 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FGF23 (see all 59)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer

    3 BioSystems Pathways for FGF23 
        Regulation of Actin Cytoskeleton
    FGF signaling pathway
    Osteoblast Signaling

    5/59        Reactome Pathways for FGF23 (see all 59)
        Klotho-mediated ligand binding
    FGFR2 ligand binding and activation
    FGFR ligand binding and activation
    Signaling by EGFR in Cancer
    Signaling by FGFR2 mutants


    4         Kegg Pathways  (Kegg details for FGF23):
        MAPK signaling pathway
    Regulation of actin cytoskeleton
    Pathways in cancer
    Melanoma


    FGF23 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FGF23

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/23 Interacting proteins for FGF23 (Q9GZV93 ENSP000002378374) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FGFR3P226073, ENSP000002607954I2D: score=1 STRING: ENSP00000260795
    PHEXP785623, ENSP000003686824I2D: score=1 STRING: ENSP00000368682
    FGF1ENSP000003385484STRING: ENSP00000338548
    FGF10ENSP000002646644STRING: ENSP00000264664
    FGF18ENSP000002746254STRING: ENSP00000274625
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006796phosphate-containing compound metabolic process IEA--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0008543fibroblast growth factor receptor signaling pathway TAS--
    GO:0010966regulation of phosphate transport IDA11409890
    GO:0010980positive regulation of vitamin D 24-hydroxylase activity IDA15040831


    FGF23 for ontologies           About GeneDecksing



    Drugs & Compounds
    for FGF23 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FGF23 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FGF23

    1 HMDB Compound for FGF23    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    10/17 Novoseek chemical compound relationships for FGF23 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcitriol 89.8 154 16234967 (7), 15917335 (6), 15698453 (4), 20157195 (4) (see all 74)
    vitamin d 82.3 129 15671080 (5), 15838626 (3), 17976083 (3), 15885032 (3) (see all 63)
    sevelamer 76.8 10 16076378 (2), 19965540 (2), 16395276 (2), 19188744 (1) (see all 5)
    1,25 dihydroxy vitamin d3 70.6 40 17293108 (5), 15264182 (4), 19519602 (4), 18230836 (2) (see all 9)
    25-hydroxyvitamin d 69.4 31 19519602 (3), 15885032 (2), 17359508 (1), 18311810 (1) (see all 16)
    calcium 60.9 103 16381997 (5), 15248822 (3), 15595334 (2), 17437520 (2) (see all 52)
    phosphorus 59.1 90 16735491 (7), 16395276 (7), 16691036 (6), 15531762 (6) (see all 21)
    octreotide 50.1 5 20458578 (2), 18936605 (1), 15742370 (1), 18299479 (1)
    hydroxyapatite 24.4 9 19946326 (2), 19816015 (1), 18791804 (1), 15086938 (1) (see all 5)
    creatinine 10.1 22 16691036 (3), 18791804 (3), 14633152 (3), 15595334 (2) (see all 10)

    Search CenterWatch for drugs/clinical trials and news about FGF23 

    Transcripts
    for FGF23 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for FGF23 gene: 
    NM_020638.2  

    Unigene Cluster for FGF23:

    Fibroblast growth factor 23
    Hs.287370  [show with all ESTs]
    Unigene Representative Sequence: NM_020638
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000237837(uc001qmq.1)

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    hsa-miR-577 hsa-miR-34c-5p hsa-miR-449b hsa-miR-2278 hsa-miR-340 hsa-miR-449a hsa-miR-105 hsa-miR-34a
    SwitchGear 3'UTR luciferase reporter plasmid: FGF23 3' UTR sequence
    Inhib. RNA
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    OriGene siRNA: FGF23
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FGF23
    Clone
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    Primer
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    Additional cDNA sequence: 

    AB037973.1 AB047858.1 AF263537.1 AY358323.1 BC069333.1 BC096713.1 BC098147.1 BC098252.1 

    2 DOTS entries:

    DT.92008957  DT.95260144 

    6 AceView cDNA sequences:

    AF263537 AB037973 AB047858 NM_020638 AY358323 BC069333 

    GeneLoc Exon Structure


    Expression
    for FGF23 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FGF23 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCGGAATATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FGF23 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod PeriosteumEndochondral OsteocytesBone
    BoneCervical VertebraeEndochondral OsteocytesBone
    BoneLumbar VertebraeEndochondral OsteocytesBone
    BoneSacral VertebraeEndochondral OsteocytesBone
    BoneStylopod PeriosteumEndochondral OsteocytesBone
    BoneThoracic RibEndochondral OsteocytesBone
    BoneThoracic VertebraeEndochondral OsteocytesBone
    BoneZeugopod PeriosteumEndochondral OsteocytesBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FGF23 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FGF23

    SOURCE GeneReport for Unigene cluster: Hs.287370

    UniProtKB/Swiss-Prot: FGF23_HUMAN, Q9GZV9
    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)

        SABiosciences Expression via Pathway-Focused PCR Array including FGF23: 
              Growth Factors in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for FGF23 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for FGF23 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves FGF231 fibroblast growth factor 23 62.5(n)
    58.8(a)    		   428104  XM_425663.1  XP_425663.1 
    lizard
    (Anolis carolinensis)    		 Reptilia FGF236
    		 --
    		 64(a)
    		 1 ↔ 1
    		 5(81042423-81052503)
    zebrafish
    (Danio rerio)    		 Actinopterygii fgf231 fibroblast growth factor 23 53.59(n)
    41.44(a)    		   494456  NM_001009564.2  NP_001009564.2 


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

    Paralogs
    for FGF23 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FGF23 gene
    FGF192  FGF212  

    FGF23 for paralogs           About GeneDecksing



    Genomic Variants
    for FGF23 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/282 NCBI SNPs in FGF23 are shown (see all 282)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048943421,2
    		Cpathogenic6544181(-) TCTACA/GGTGAG 2 S G mis10--------
    rs1048943471,2
    		Cpathogenic6552973(-) ACGGCA/GGCACA 2 Q R mis10--------
    rs289378821,2
    		Cpathogenic6552981(-) ACACCC/TGGAGC 2 R W mis1 ese32Minor allele frequency- T:0.00NA 4
    rs133128041,2
    		C,--4333896(-) tcaagC/Tgattc 1 -- ds50011Minor allele frequency- T:0.01NS 178
    rs133128031,2
    		C,F,--4333930(-) gatctC/Gggctc 1 -- ds50011Minor allele frequency- G:0.01NS 178
    rs133128021,2
    		H--4334010(-) TTTTCT/Cttctt 1 -- ds50015Minor allele frequency- C:0.00NS EA 596
    rs133128011,2
    		C,F,H,--4334347(-) TTTGCC/TTATCC 1 -- ut31 ese35Minor allele frequency- T:0.01NS EA 600
    rs133128001,2
    		C,H,--4334378(-) ATGTGG/ACAGTA 1 -- ut31 ese35Minor allele frequency- A:0.00NS EA 600
    rs133127991,2
    		H--4334615(-) CAGTAA/GAACTA 1 -- ut315Minor allele frequency- G:0.00NS EA 592
    rs133127981,2
    		C,F,H,--4335071(-) GCATCA/GAGGAC 1 -- ut318Minor allele frequency- G:0.01NS EA NA WA 712

    HapMap Linkage Disequilibrium report for FGF23 (4477393 - 4488894 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FGF23: --
    Human Gene Mutation Database (HGMD): FGF23

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FGF23
    DNA2.0 Custom Variant and Variant Library Synthesis for FGF23

    Disorders / Diseases
    for FGF23 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    FGF23 for disorders           About GeneDecksing

    OMIM gene information: 605380   
    OMIM disorders: 193100  211900  
    UniProtKB/Swiss-Prot: FGF23_HUMAN, Q9GZV9
  • Defects in FGF23 are the cause of autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]. ADHR is
    • characterized by low serum phosphorus concentrations, rickets, osteomalacia, leg deformities, short stature, bone pain
    and dental abscesses
  • Defects in FGF23 are a cause of hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900]. HFTC is a
    • severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in
    the skin and subcutaneous tissues

    20/68 diseases for FGF23 (see all 68):    About MalaCards
    familial tumoral calcinosis    calcinosis    rickets    osteomalacia
    hypophosphatemic rickets, autosomal dominant    hypophosphatemia    hyperphosphatemia    tumoral calcinosis, hyperphosphatemic
    osteomalacia, tumor-induced    hereditary hypophosphatemic rickets    hypophosphatemic rickets with hypercalciuria    linear nevus sebaceous syndrome
    jansen's metaphyseal chondrodysplasia    hyperphosphatemic familial tumoral calcinosis    x-linked hypophosphatemia    hereditary hypophosphatemic rickets with hypercalciuria
    hyperostosis-hyperphosphatemia syndrome    metaphyseal chondrodysplasia    epidermal nevus    oncogenic osteomalacia

    13 diseases from the University of Copenhagen DISEASES database for FGF23:
    Hypophosphatemia     X-linked hypophosphatemia     Osteomalacia     Hyperphosphatemia
    Rickets     Kidney disease     Calcinosis     Hyperparathyroidism
    Hypervitaminosis D     Mesenchymal cell neoplasm     McCune Albright syndrome     Hypercalcemia
    Fibrous dysplasia

    10/43 Novoseek disease relationships for FGF23 gene (see all 43)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypophosphatemic rickets, autosomal dominant 96.8 38 17227222 (2), 15687325 (1), 16214071 (1), 17565275 (1) (see all 25)
    rickets hypophosphatemic 96.1 101 12711740 (5), 14733920 (2), 19581284 (2), 15838626 (2) (see all 52)
    hypophosphatemia 95.4 145 17891358 (4), 16941023 (3), 16691036 (3), 15838626 (3) (see all 71)
    osteomalacia 95.4 183 12711740 (5), 16261449 (4), 12970268 (3), 15901526 (3) (see all 87)
    tumoral calcinosis, hyperphosphatemic 93.2 12 19837926 (1), 17657990 (1), 18682534 (1), 20219587 (1) (see all 7)
    hyperphosphatemia 92.8 77 15356053 (3), 19462937 (3), 17129170 (3), 15917335 (2) (see all 42)
    calcinosis, tumoral 91.1 31 16030159 (5), 19411468 (2), 17976082 (2), 15687325 (1) (see all 19)
    rickets 87.6 29 18234575 (4), 15483460 (1), 17565275 (1), 20513948 (1) (see all 18)
    hyperparathyroidism secondary 80.1 40 16076376 (4), 15332221 (4), 19050056 (2), 15698459 (2) (see all 21)
    calcification 72.7 42 16896512 (7), 17970775 (4), 18791804 (3), 19414634 (2) (see all 19)

    Genetic Association Database (GAD): FGF23
    Human Genome Epidemiology (HuGE) Navigator: FGF23 (8 documents)

    Export disorders for FGF23 gene to outside databases

    Publications
    for FGF23 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FGF23 gene, integrated from 9 sources (see all 463):
    (articles sorted by number of sources associating them with FGF23)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel fibroblast growth factor, FGF-23, preferentially expressed in the ventrolateral thalamic nucleus of the brain. (PubMed id 11032749)1, 2, 3, 9 Yamashita T.... Itoh N. (2000)
    2. FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. (PubMed id 11409890)1, 2, 9 Bowe A.E.... Schiavi S.C. (2001)
    3. FGF23 is processed by proprotein convertases but not by PHEX. (PubMed id 15268897)1, 2, 9 Benet-Pages A....Strom T.M. (2004)
    4. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. (PubMed id 15590700)1, 2, 9 Benet-Pages A.... Lorenz-Depiereux B. (2005)
    5. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. (PubMed id 12952917)2, 4, 9 Riminucci M....Gehron Robey P. (2003)
    6. The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. (PubMed id 11157998)1, 2, 9 White K.E.... Econs M.J. (2001)
    7. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. (PubMed id 11062477)1, 2, 9 White K.E.... Strom T.M. (2000)
    8. Physiological regulation and disorders of phosphate metabolism--pivotal role of fibroblast growth factor 23. (PubMed id 18310961)1, 3 Fukumoto S. (2008)
    9. Overexpression of fibroblast growth factor 23 suppresses osteoblast differentiation and matrix mineralization in vitro. (PubMed id 18282132)1, 2 Wang H.... Maeda N. (2008)
    10. Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family. (PubMed id 16597617)1, 2 Zhang X....Ornitz D.M. (2006)

    External Searches for FGF23 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing FGF23 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8074 HGNC: 3680 AceView: FGF23 Ensembl:ENSG00000118972 euGenes: HUgn8074
    ECgene: FGF23 Kegg: 8074 H-InvDB: FGF23

    Other Databases showing FGF23 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FGF23 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FGF23 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FGF23 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGF23
    NIEHS-SNPshttp://egp.gs.washington.edu/data/fgf23/

    Intellectual Property
    for FGF23 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for FGF23 gene:
    Search GeneIP for patents involving FGF23

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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