InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FGF17

Summary

InnateDB Protein

IDBP-9981.5

Last Modified

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

Gene Symbol

FGF17

Protein Name

fibroblast growth factor 17

Synonyms

FGF-13; HH20;

Species

Homo sapiens

Ensembl Protein

ENSP00000352414

InnateDB Gene

IDBG-9977 (FGF17)

Protein Structure

UniProt Annotation

Function

Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development. {ECO:0000269PubMed:16597617}.

Subcellular Localization

Secreted.

Disease Associations

Hypogonadotropic hypogonadism 20 with or without anosmia (HH20) [MIM:615270]: 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). {ECO:0000269PubMed:23643382}. Note=The disease is caused by mutations 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). {ECO:0000269PubMed:23643382}.

Tissue Specificity

Preferentially expressed in the embryonic brain.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005105	type 1 fibroblast growth factor receptor binding
GO:0005111	type 2 fibroblast growth factor receptor binding
GO:0008083	growth factor activity

Biological Process

GO:0007165	signal transduction
GO:0007173	epidermal growth factor receptor signaling pathway
GO:0007267	cell-cell signaling
GO:0007399	nervous system development
GO:0008284	positive regulation of cell proliferation
GO:0008286	insulin receptor signaling pathway
GO:0008543	fibroblast growth factor receptor signaling pathway
GO:0038095	Fc-epsilon receptor signaling pathway
GO:0045087	innate immune response
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0048015	phosphatidylinositol-mediated signaling