Entity Details

Primary name FGF17
Entity type gene
Source Source Link

Details

PrimaryID8822
RefseqGeneNG_033889
SymbolFGF17
Namefibroblast growth factor 17
Chromosome8
Location8p21.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-12-22
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsFGF17_HUMAN

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:0005111 type 2 fibroblast growth factor receptor binding
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0007165 signal transduction
GO:0007267 cell-cell signaling
GO:0007399 nervous system development
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:0030154 cell differentiation
GO:0030334 regulation of cell migration
GO:0051897 positive regulation of protein kinase B signaling

Diseases

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Disease IDSourceNameDescription
615270 OMIMHypogonadotropic hypogonadism 20 with or without anosmia (HH20)A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in FGF17 also have a mutation in another HH-associated gene including FGFR1, HS6ST1 and FLRT3 (PubMed:23643382).

Interactions

8 interactions