Entity Details

Primary name FGF23_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9GZV9
EntryNameFGF23_HUMAN
FullNameFibroblast growth factor 23
TaxID9606
Evidenceevidence at protein level
Length251
SequenceStatuscomplete
DateCreated2001-04-27
DateModified2021-06-02

Ontological Relatives

GenesFGF23

GO terms

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GOName
GO:0000165 MAPK cascade
GO:0001934 positive regulation of protein phosphorylation
GO:0005104 fibroblast growth factor receptor binding
GO:0005105 type 1 fibroblast growth factor receptor binding
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005788 endoplasmic reticulum lumen
GO:0005796 Golgi lumen
GO:0006796 phosphate-containing compound metabolic process
GO:0008083 growth factor activity
GO:0008284 positive regulation of cell population proliferation
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0009887 animal organ morphogenesis
GO:0010628 positive regulation of gene expression
GO:0010966 regulation of phosphate transport
GO:0010980 positive regulation of vitamin D 24-hydroxylase activity
GO:0030154 cell differentiation
GO:0030334 regulation of cell migration
GO:0030502 negative regulation of bone mineralization
GO:0030643 cellular phosphate ion homeostasis
GO:0032026 response to magnesium ion
GO:0042369 vitamin D catabolic process
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0044320 cellular response to leptin stimulus
GO:0045668 negative regulation of osteoblast differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046888 negative regulation of hormone secretion
GO:0051897 positive regulation of protein kinase B signaling
GO:0055062 phosphate ion homeostasis
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0071305 cellular response to vitamin D
GO:0071354 cellular response to interleukin-6
GO:0071374 cellular response to parathyroid hormone stimulus
GO:0090080 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway
GO:1904383 response to sodium phosphate

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR002209 Fibroblast growth factor familyFamilyFamily
IPR008996 Cytokine IL1/FGFFamilyHomologous superfamily
IPR028304 Fibroblast growth factor 23FamilyFamily

Diseases

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Disease IDSourceNameDescription
617993 OMIMTumoral calcinosis, hyperphosphatemic, familial, 2 (HFTC2)A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. The disease is caused by variants affecting the gene represented in this entry.
193100 OMIMHypophosphatemic rickets, autosomal dominant (ADHR)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. The disease is caused by variants affecting the gene represented in this entry.