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FGF23 (fibroblast growth factor 23)

Gene

8074

Fibroblast growth factor 23

FGF23

ADHR, FGFN, HFTC2, HPDR2, HYPF, PHPTC

12p13.32

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

Show/Hide all(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
rs193922701	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs193922702	C>T	Pathogenic	Missense variant, coding sequence variant
rs863224872	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795205	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1220533001	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs1555096583	A>G	Pathogenic	Missense variant, coding sequence variant

Show/Hide all(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
MIRT995671	hsa-miR-1321	CLIP-seq
MIRT995672	hsa-miR-140-3p	CLIP-seq
MIRT995673	hsa-miR-186	CLIP-seq
MIRT995674	hsa-miR-1910	CLIP-seq
MIRT995675	hsa-miR-1912	CLIP-seq
MIRT995676	hsa-miR-3119	CLIP-seq
MIRT995677	hsa-miR-3133	CLIP-seq
MIRT995678	hsa-miR-3148	CLIP-seq
MIRT995679	hsa-miR-335	CLIP-seq
MIRT995680	hsa-miR-3936	CLIP-seq
MIRT995681	hsa-miR-4293	CLIP-seq
MIRT995682	hsa-miR-4311	CLIP-seq
MIRT995683	hsa-miR-4419a	CLIP-seq
MIRT995684	hsa-miR-4510	CLIP-seq
MIRT995685	hsa-miR-455-3p	CLIP-seq
MIRT995686	hsa-miR-4659a-5p	CLIP-seq
MIRT995687	hsa-miR-4659b-5p	CLIP-seq
MIRT995688	hsa-miR-4722-5p	CLIP-seq
MIRT995689	hsa-miR-4729	CLIP-seq
MIRT995690	hsa-miR-4739	CLIP-seq
MIRT995691	hsa-miR-4756-5p	CLIP-seq
MIRT995692	hsa-miR-4776-3p	CLIP-seq
MIRT995693	hsa-miR-4786-5p	CLIP-seq
MIRT995694	hsa-miR-583	CLIP-seq
MIRT995695	hsa-miR-591	CLIP-seq
MIRT995668	hsa-miR-1273d	CLIP-seq
MIRT995675	hsa-miR-1912	CLIP-seq
MIRT1995258	hsa-miR-2278	CLIP-seq
MIRT1995259	hsa-miR-3127-3p	CLIP-seq
MIRT1995260	hsa-miR-3161	CLIP-seq
MIRT1995261	hsa-miR-323b-3p	CLIP-seq
MIRT1995262	hsa-miR-34a	CLIP-seq
MIRT1995263	hsa-miR-34c-5p	CLIP-seq
MIRT1995264	hsa-miR-4274	CLIP-seq
MIRT1995265	hsa-miR-449a	CLIP-seq
MIRT1995266	hsa-miR-449b	CLIP-seq
MIRT1995267	hsa-miR-4501	CLIP-seq
MIRT1995268	hsa-miR-539	CLIP-seq
MIRT1995269	hsa-miR-548a-3p	CLIP-seq
MIRT1995270	hsa-miR-548e	CLIP-seq
MIRT1995271	hsa-miR-548f	CLIP-seq
MIRT2229365	hsa-miR-1290	CLIP-seq
MIRT2229366	hsa-miR-3152-5p	CLIP-seq
MIRT2229367	hsa-miR-3167	CLIP-seq
MIRT2229368	hsa-miR-326	CLIP-seq
MIRT2229369	hsa-miR-330-5p	CLIP-seq
MIRT2229370	hsa-miR-4297	CLIP-seq
MIRT2229371	hsa-miR-4700-3p	CLIP-seq
MIRT2229372	hsa-miR-4774-3p	CLIP-seq
MIRT2229373	hsa-miR-4782-5p	CLIP-seq
MIRT2229374	hsa-miR-876-5p	CLIP-seq
MIRT2229375	hsa-miR-942	CLIP-seq
MIRT1995260	hsa-miR-3161	CLIP-seq
MIRT1995261	hsa-miR-323b-3p	CLIP-seq
MIRT1995269	hsa-miR-548a-3p	CLIP-seq
MIRT1995270	hsa-miR-548e	CLIP-seq
MIRT1995271	hsa-miR-548f	CLIP-seq

Show/Hide all(40)

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
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	16638743
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0006796	Process	Phosphate-containing compound metabolic process	IEA
GO:0008083	Function	Growth factor activity	IBA	21873635
GO:0008284	Process	Positive regulation of cell population proliferation	IBA	21873635
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IBA	21873635
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	TAS
GO:0009887	Process	Animal organ morphogenesis	IBA	21873635
GO:0010628	Process	Positive regulation of gene expression	IBA	21873635
GO:0010966	Process	Regulation of phosphate transport	IDA	11409890
GO:0010980	Process	Positive regulation of vitamin D 24-hydroxylase activity	IDA	15040831
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030334	Process	Regulation of cell migration	IBA	21873635
GO:0030502	Process	Negative regulation of bone mineralization	IDA	18282132
GO:0030643	Process	Cellular phosphate ion homeostasis	IEA
GO:0032026	Process	Response to magnesium ion	IEA
GO:0042369	Process	Vitamin D catabolic process	IDA	15040831
GO:0043687	Process	Post-translational protein modification	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0044320	Process	Cellular response to leptin stimulus	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IDA	18282132
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IEA
GO:0046888	Process	Negative regulation of hormone secretion	ISS
GO:0051897	Process	Positive regulation of protein kinase B signaling	TAS
GO:0055062	Process	Phosphate ion homeostasis	IMP	11062477
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0071305	Process	Cellular response to vitamin D	IEA
GO:0071354	Process	Cellular response to interleukin-6	IEA
GO:0071374	Process	Cellular response to parathyroid hormone stimulus	IEA
GO:0090080	Process	Positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway	IEA
GO:1904383	Process	Response to sodium phosphate	IEA

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

Sequence

MLGARLRLWVCALCSVCSMSVLRAYPNASPLLGSSWGGLIHLYTATARNSYHLQIHKNGH
VDGAPHQTIYSALMIRSEDAGFVVITGVMSRRYLCMDFRGNIFGSHYFDPENCRFQHQTL
ENGYDVYHSPQYHFLVSLGRAKRAFLPGMNPPPYSQFLSRRNEIPLIHFNTPIPRRHTRS
AEDDSERDPLNVLKPRARMTPAPASCSQELPSAEDNSPMASDPLGVVRGGRVNTHAGGTG
PEGCRPFAKFI

Sequence length

251

Interactions

View interactions

	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

Show/Hide Causal Diseases (3)

Causal
Disease name	Disease term	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, rs1556025994, rs1064793847, rs1556128253, rs1554278331, rs899142959, rs373044722	11062477, 15590700, 16638743, 19655082, 11409890, 19655082, 11062477
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, rs1555096583, rs1220533001, rs762936774, rs775341386	17710231, 15590700, 19188744, 22142751, 19188744, 22142751, 15590700, 15590700, 16151858, 16030159, 24680727

Show/Hide Unknown Diseases (5)

Unknown
Disease name	Disease term	dbSNP ID	References
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Dwarfism	Dwarfism
Hyperphosphatemia	Hyperphosphatemia (disorder)		17710231
Phosphate diabetes	Phosphate Diabetes
Rickets	Adult Rickets

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