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FGF23 Gene

protein-coding   GIFtS: 61
GCID: GC12M004477

Fibroblast Growth Factor 23

  See FGF23-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Fibroblast Growth Factor 231 2     phosphatonin2
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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 calcinosis, and enthesopathy. 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 FGF19.

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) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_009759.17  
Regulatory elements:
   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 plasmidFGF23 promoter sequence
   Search Chromatin IP Primers for FGF23

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
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

Explore proteomics data for FGF23 at MOPED

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
  • Glycosylation2 at Thr178

  • See FGF23 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065689.1  
    ENSEMBL proteins: 
     ENSP00000237837  
    Reactome Protein details: Q9GZV9

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    antibodies-online proteins for FGF23 (45 products) 

     
    antibodies-online peptides for FGF23

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR028304 FGF23
     IPR028142 IL-1_fam/FGF_fam
     IPR008996 Cytokine_IL1-like
     IPR002209 Fibroblast_GF_fam

    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


    Find genes that share domains with FGF23           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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:
                fully expand
    Bone: Endochondral Osteocytes (Vertebrae), Endochondral Osteocytes (Rib)      fully expand to see all 5 cells

    It affects the following cells:       fully expand
    Bone: Endochondral Osteocytes (Vertebrae), Endochondral Osteocytes (Rib)      fully expand to see all 5 cells

         Gene Ontology (GO): 4 molecular function terms:    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--
         
    Find genes that share ontologies with FGF23           About GenesLikeMe


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

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

    Find genes that share phenotypes with FGF23           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Fgf23tm1Tyam for FGF23

       genOway: Develop your customized and physiologically relevant rodent model for FGF23

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    Selected qRT-PCR 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 plasmidFGF23 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FGF23_HUMAN, Q9GZV9: Secreted. Note=Secretion is dependent on O-glycosylation
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space ISS--

    Find genes that share ontologies with FGF23           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for FGF23 About   (see all 34)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    2Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    3PI-3K cascade
    PI3K/AKT activation0.93
    PI3K/AKT Signaling in Cancer0.88
    GAB1 signalosome0.93
    PI3K events in ERBB4 signaling0.88
    Constitutive PI3K/AKT Signaling in Cancer0.88
    Role of LAT2/NTAL/LAB on calcium mobilization0.80
    PIP3 activates AKT signaling0.88
    Signaling by SCF-KIT0.72
    4Signaling by FGFR
    Signaling by FGFR0.91
    DAP12 interactions0.89
    Signaling by FGFR in disease0.91
    Signaling by PDGF0.87
    Downstream signaling of activated FGFR0.91
    Signaling by EGFR0.83
    Downstream signal transduction0.90
    Signaling by EGFR in Cancer0.82
    5FGFR ligand binding and activation
    FGFR ligand binding and activation0.79
    Klotho-mediated ligand binding0.00
    SHC-mediated cascade0.79
    FGFR4 ligand binding and activation0.00
    FGFR2 ligand binding and activation0.74
    FGFR1 ligand binding and activation0.00
    FRS2-mediated cascade0.70
    Activated point mutants of FGFR20.00


    Find genes that share SuperPaths with FGF23           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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


    Selected Reactome Pathways for FGF23 (see all 18)
        Signaling by activated point mutants of FGFR1
    FRS2-mediated cascade
    FGFR4 ligand binding and activation
    Negative regulation of FGFR signaling
    Activated point mutants of FGFR2


    Selected Kegg Pathways  (Kegg details for FGF23) (see all 8):
        MAPK signaling pathway
    Ras signaling pathway
    Rap1 signaling pathway
    PI3K-Akt signaling pathway
    Regulation of actin cytoskeleton

        Pathway & Disease-focused RT2 Profiler PCR Array including FGF23: 
              Growth Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FGF23

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for FGF23 (Q9GZV93 ENSP000002378374) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    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): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006796phosphate-containing compound metabolic process IEA--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0008543fibroblast growth factor receptor signaling pathway TAS--
    GO:0010966regulation of phosphate transport IDA11409890

    Find genes that share ontologies with FGF23           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FGF23

    1 HMDB Compound for FGF23    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected Novoseek inferred 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)



    Find genes that share compounds with FGF23           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat FGF23

    Additional mRNA 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 AY358323 AB037973 NM_020638 AB047858 BC069333 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FGF23 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCGGAATATA
    FGF23 Expression
    About this image


    FGF23 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Endochondral Osteocytes Zeugopod Periosteum
    FGF23 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FGF23 Protein Expression

    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)

        Pathway & Disease-focused RT2 Profiler PCR Array including FGF23: 
              Growth Factors in human mouse rat

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    In Situ
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    (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

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    This gene was present in the common ancestor of chordates.

    Orthologs for FGF23 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fgf231 , 5 fibroblast growth factor 231, 5 72.91(n)1
    70.52(a)1
      6 (61.92 cM)5
    646541  NM_022657.41  NP_073148.11 
     1270729025 
    chicken
    (Gallus gallus)
    Aves FGF231 fibroblast growth factor 23 62.65(n)
    58.8(a)
      428104  XM_425663.2  XP_425663.1 
    lizard
    (Anolis carolinensis)
    Reptilia FGF236
    fibroblast growth factor 23
    60(a)
    1 ↔ 1
    5(81042423-81052503)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fgf23.11 fibroblast growth factor 23, gene 1 61.54(n)
    57.69(a)
      100233219  XM_002940301.2  XP_002940347.2 
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FGF23 gene
    FGF192  FGF212  

    Find genes that share paralogs with FGF23           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FGF23 (see all 342)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289378821,2,,4
    CHypophosphatemic rickets, autosomal dominant (ADHR)4 pathogenic14410180(-) ACACCC/TGGAGC 2 R W mis1 ese30--------
    VAR_0107174
    Hypophosphatemic rickets, autosomal dominant (ADHR)4--see VAR_0107172 R Q mis40--------
    VAR_0238314
    Tumoral calcinosis, hyperphosphatemic, familial (HFTC)4--see VAR_0238312 S G mis40--------
    VAR_0107194
    Hypophosphatemic rickets, autosomal dominant (ADHR)4--see VAR_0107192 R Q mis40--------
    rs1048943471,2
    Cpathogenic14410188(-) ACGGCA/GGCACA 2 Q R mis10--------
    rs1048943441,2
    Cpathogenic14410329(-) CCACTC/TTCCTC 2 S F mis10--------
    rs1048943431,2
    Cpathogenic14412238(-) CTGCAC/TGGATT 2 T M mis10--------
    rs1048943421,2
    Cpathogenic14418988(-) TCTACA/GGTGAG 2 S G mis10--------
    rs1401740601,2
    C--4342332(+) TTTTT-/TGAGAC 1 -- int10--------
    rs578260721,2
    C--4345015(+) ACACA-/CAAACAC 1 -- int12Minor allele frequency- CA:0.00NA CSA 8

    HapMap Linkage Disequilibrium report for FGF23 (4477393 - 4488894 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FGF23: --
    Human Gene Mutation Database (HGMD): FGF23
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FGF23
    DNA2.0 Custom Variant and Variant Library Synthesis for FGF23

    (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.)
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    OMIM gene information: 605380   
    OMIM disorders: 193100  211900  
    UniProtKB/Swiss-Prot: FGF23_HUMAN, Q9GZV9
  • 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. 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for FGF23 (see all 37):    
    About MalaCards
    calcinosis    enthesopathy    oncogenic osteomalacia    paraneoplastic syndromes
    hyperphosphatemic familial tumoral calcinosis    linear nevus sebaceous syndrome    hyperphosphatemia    familial tumoral calcinosis
    osteomalacia, tumor-induced    hypophosphatemic rickets, autosomal dominant    hyperphosphatemic familial tumoral calcinosis, fgf23-related    mesenchymal cell neoplasm
    hypophosphatemia    tumoral calcinosis, hyperphosphatemic    hyperostosis-hyperphosphatemia syndrome    melorheostosis
    osteomalacia    mccune albright syndrome    opsismodysplasia    hereditary hypophosphatemic rickets

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

    Find genes that share disorders with FGF23           About GenesLikeMe

    Selected Novoseek inferred 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

    (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)
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    PubMed articles for FGF23 gene, integrated from 10 sources (see all 502):
    (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. (Biochem. Biophys. Res. Commun. 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. (Biochem. Biophys. Res. Commun. 2001)
    3. FGF23 is processed by proprotein convertases but not by PHEX. (PubMed id 15268897)1, 2, 9 Benet-Pages A.... Strom T.M. (Bone 2004)
    4. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. (PubMed id 15590700)1, 2, 9 Benet-Pages A.... Lorenz-Depiereux B. (Hum. Mol. Genet. 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. (J. Clin. Invest. 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. (J. Clin. Endocrinol. Metab. 2001)
    7. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. (PubMed id 11062477)1, 2, 9 White K.E.... Strom T.M. (Nat. Genet. 2000)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Infantile hypercalcemia and hypercalciuria: new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment. (PubMed id 20394945)1, 4 Nguyen M....Garabedian M. (J. Pediatr. 2010)
    10. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=FGF23[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/fgf23/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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