Gene Gene information from NCBI Gene database.
Entrez ID 8074
Gene name Fibroblast growth factor 23
Gene symbol FGF23
Synonyms (NCBI Gene)
ADHRFGFNHFTC2HPDR2HYPFPHPTC
Chromosome 12
Chromosome location 12p13.32
Summary 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 t
SNPs SNP information provided by dbSNP.
11
SNP ID Visualize variation Clinical significance Consequence
rs28937882 G>A,T Likely-pathogenic, pathogenic Missense variant, synonymous variant, coding sequence variant
rs104894342 T>C Pathogenic, likely-pathogenic, uncertain-significance Coding sequence variant, missense variant
rs104894343 A>G Pathogenic Coding sequence variant, missense variant
rs104894344 G>A Pathogenic Coding sequence variant, missense variant
rs104894347 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
62
miRTarBase ID miRNA Experiments Reference
MIRT017013 hsa-miR-335-5p Microarray 18185580
MIRT029016 hsa-miR-26b-5p Microarray 19088304
MIRT995668 hsa-miR-1273d CLIP-seq
MIRT995669 hsa-miR-1276 CLIP-seq
MIRT995670 hsa-miR-1286 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IEA
GO:0005104 Function Fibroblast growth factor receptor binding IEA
GO:0005105 Function Type 1 fibroblast growth factor receptor binding IBA
GO:0005105 Function Type 1 fibroblast growth factor receptor binding IEA
GO:0005515 Function Protein binding IPI 17086194, 19966287, 35512704
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605380 3680 ENSG00000118972
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9GZV9
Protein name Fibroblast growth factor 23 (FGF-23) (Phosphatonin) (Tumor-derived hypophosphatemia-inducing factor) [Cleaved into: Fibroblast growth factor 23 N-terminal peptide; Fibroblast growth factor 23 C-terminal peptide]
Protein function Regulator of phosphate homeostasis (PubMed:11062477). Inhibits renal tubular phosphate transport by reducing SLC34A1 levels (PubMed:11409890). Up-regulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid t
PDB 2P39 , 5W21 , 6S22 , 7YSH , 7YSU , 7YSW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00167 FGF 39 150 Fibroblast growth factor Domain
Tissue specificity 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). {ECO:0000269|PubMed:12952917}.
Sequence
MLGARLRLWVCALCSVCSMSVLRAYPNASPLLGSSWGGLIHLYTATARNSYHLQIHKNGH
VDGAPHQTIYSALMIRSEDAGFVVITGVMSRRYLCMDFRGNIFGSHYFDPENCRFQHQTL
ENGYDVYHSPQYHFLVSLGRAKRAFLPGMN
PPPYSQFLSRRNEIPLIHFNTPIPRRHTRS
AEDDSERDPLNVLKPRARMTPAPASCSQELPSAEDNSPMASDPLGVVRGGRVNTHAGGTG
PEGCRPFAKFI
Sequence length 251
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Regulation of actin cytoskeleton
Parathyroid hormone synthesis, secretion and action
Pathways in cancer
Melanoma
Breast cancer
Gastric cancer
  PI3K Cascade
PIP3 activates AKT signaling
Signaling by activated point mutants of FGFR1
Signaling by activated point mutants of FGFR3
FGFR4 ligand binding and activation
FGFR3c ligand binding and activation
FGFR1c ligand binding and activation
FGFR1c and Klotho ligand binding and activation
FGFR2c ligand binding and activation
FGFR3 mutant receptor activation
Activated point mutants of FGFR2
Constitutive Signaling by Aberrant PI3K in Cancer
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Phospholipase C-mediated cascade: FGFR1
Phospholipase C-mediated cascade; FGFR2
Phospholipase C-mediated cascade; FGFR3
Phospholipase C-mediated cascade; FGFR4
Downstream signaling of activated FGFR1
SHC-mediated cascade:FGFR1
PI-3K cascade:FGFR1
FRS-mediated FGFR1 signaling
PI-3K cascade:FGFR2
SHC-mediated cascade:FGFR2
FRS-mediated FGFR2 signaling
SHC-mediated cascade:FGFR3
FRS-mediated FGFR3 signaling
PI-3K cascade:FGFR3
FRS-mediated FGFR4 signaling
SHC-mediated cascade:FGFR4
PI-3K cascade:FGFR4
Negative regulation of FGFR1 signaling
Negative regulation of FGFR2 signaling
Negative regulation of FGFR3 signaling
Negative regulation of FGFR4 signaling
Signaling by FGFR2 in disease
Signaling by FGFR1 in disease
FGFRL1 modulation of FGFR1 signaling
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Signaling by FGFR3 point mutants in cancer
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant hypophosphatemic rickets Pathogenic; Likely pathogenic rs104894347, rs28937882, rs2497236074, rs193922701, rs193922702 RCV000005328
RCV000005329
RCV003476889
RCV000029797
RCV000029798
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome Likely pathogenic rs863224872 RCV000197637
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypophosphatemic rickets Pathogenic rs193922702 RCV001843462
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature Pathogenic rs193922702 RCV005245482
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CALCINOSIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FGF23-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERCALCEMIC TUMORAL CALCINOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 29710336
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 23393166
★☆☆☆☆
Found in Text Mining only
Adult Rickets Rickets BEFREE 12519781, 12952927, 16337659, 17033621, 19581284, 20841428, 21745613, 22396161, 23174215, 24006476, 25089825, 25165185, 26721590, 27754732, 27929669
View all (12 more)
★☆☆☆☆
Found in Text Mining only
Adult Rickets Rickets LHGDN 12590648, 15930999
★☆☆☆☆
Found in Text Mining only
Adult Rickets Rickets HPO_DG
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta Amelogenesis imperfecta Pubtator 36351670 Associate
★☆☆☆☆
Found in Text Mining only
Amelogenesis imperfecta local hypoplastic form Amelogenesis imperfecta Pubtator 36351670 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 24509850, 28475601, 28784656, 29073196, 29740119, 30353318, 30664681, 31145704, 31278194, 31461904, 31519999
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 29400142
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 26558428 Stimulate
★☆☆☆☆
Found in Text Mining only