InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FGF23

Summary

InnateDB Protein

IDBP-12970.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FGF23

Protein Name

fibroblast growth factor 23

Synonyms

ADHR; FGFN; HPDR2; HYPF; PHPTC;

Species

Homo sapiens

Ensembl Protein

ENSP00000237837

InnateDB Gene

IDBG-12968 (FGF23)

Protein Structure

UniProt Annotation

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. {ECO:0000250, ECO:0000269PubMed:11062477, ECO:0000269PubMed:11409890, ECO:0000269PubMed:15040831, ECO:0000269PubMed:16597617, ECO:0000269PubMed:18282132}.

Subcellular Localization

Secreted {ECO:0000269PubMed:16638743}. Note=Secretion is dependent on O-glycosylation.

Disease Associations

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. {ECO:0000269PubMed:11062477}. 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. {ECO:0000269PubMed:15590700}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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:0000269PubMed:12952917}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005104	fibroblast growth factor receptor binding
GO:0005105	type 1 fibroblast growth factor receptor binding
GO:0005515	protein binding
GO:0008083	growth factor activity

Biological Process

GO:0006796	phosphate-containing compound metabolic process
GO:0007173	epidermal growth factor receptor signaling pathway
GO:0008286	insulin receptor signaling pathway
GO:0008543	fibroblast growth factor receptor signaling pathway
GO:0010966	regulation of phosphate transport
GO:0010980	positive regulation of vitamin D 24-hydroxylase activity
GO:0030154	cell differentiation
GO:0030500	regulation of bone mineralization
GO:0030502	negative regulation of bone mineralization
GO:0030643	cellular phosphate ion homeostasis
GO:0038095	Fc-epsilon receptor signaling pathway
GO:0042359	vitamin D metabolic process
GO:0042369	vitamin D catabolic process
GO:0045087	innate immune response
GO:0045668	negative regulation of osteoblast differentiation
GO:0045893	positive regulation of transcription, DNA-templated
GO:0046888	negative regulation of hormone secretion
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0048015	phosphatidylinositol-mediated signaling
GO:0055062	phosphate ion homeostasis
GO:0070374	positive regulation of ERK1 and ERK2 cascade
GO:0090080	positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway