Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8074
Gene name Gene Name - the full gene name approved by the HGNC.
Fibroblast growth factor 23
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FGF23
Synonyms (NCBI Gene) Gene synonyms aliases
ADHR, FGFN, HFTC2, HPDR2, HYPF, PHPTC
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ADHR, HFTC2
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.32
Summary Summary of gene provided in NCBI Entrez 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 t
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0001934 Process Positive regulation of protein phosphorylation IBA 21873635
GO:0005104 Function Fibroblast growth factor receptor binding IBA 21873635
GO:0005105 Function Type 1 fibroblast growth factor receptor binding IBA 21873635
GO:0005515 Function Protein binding IPI 17086194, 19966287
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605380 3680 ENSG00000118972
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hyperphosphatemic tumoral calcinosis Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome rs863224872
Hypophosphatemic rickets Autosomal dominant hypophosphatemic rickets, Hypophosphatemic Rickets rs104894347, rs28937882, rs587776696, rs587776697, rs587776698, rs121908248, rs587776797, rs121908249, rs193922701, rs193922702, rs886041227, rs886041363, rs886041296, rs886041369, rs866429868
View all (6 more)
11062477, 15590700, 16638743, 19655082, 11409890
Tumoral calcinosis Tumoral calcinosis, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 rs104894343, rs104894344, rs745655924, rs137853086, rs375879489, rs761396172, rs137853087, rs137853091, rs137853088, rs137853089, rs137853090, rs766750282, rs760830864, rs786205250, rs267606841
View all (4 more)
17710231, 15590700, 19188744, 22142751, 16151858, 16030159, 24680727
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure ClinVar
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acute Kidney Injury Inhibit 21903990
Amelogenesis Imperfecta Associate 36351670
Amelogenesis imperfecta local hypoplastic form Associate 36351670
Aortic Dissection Stimulate 26558428
Arrhythmias Cardiac Associate 35008591
Arthritis Stimulate 37627287
Atherosclerosis Stimulate 28619026, 31542779
Atrial Fibrillation Associate 34798808
Bone Diseases Associate 24006476, 28594289, 32236867
Bone Diseases Metabolic Associate 31354894, 31648693, 37192015, 40133996