InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FGF8

Summary

InnateDB Protein

IDBP-87430.7

Last Modified

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

Gene Symbol

FGF8

Protein Name

fibroblast growth factor 8 (androgen-induced)

Synonyms

AIGF; FGF-8; HBGF-8; HH6; KAL6;

Species

Homo sapiens

Ensembl Protein

ENSP00000321945

InnateDB Gene

IDBG-87424 (FGF8)

Protein Structure

UniProt Annotation

Function

Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. {ECO:0000269PubMed:16384934, ECO:0000269PubMed:16597617, ECO:0000269PubMed:8663044}.

Subcellular Localization

Secreted.

Disease Associations

Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702]: 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:18596921, ECO:0000269PubMed:23643382}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in FGF8 as well as in other HH- associated genes including FGFR1 (PubMed:23643382). {ECO:0000269PubMed:23643382}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	5 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
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:0008083	growth factor activity

Biological Process

GO:0001656	metanephros development
GO:0001823	mesonephros development
GO:0003148	outflow tract septum morphogenesis
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0007173	epidermal growth factor receptor signaling pathway
GO:0007369	gastrulation
GO:0008284	positive regulation of cell proliferation
GO:0008286	insulin receptor signaling pathway
GO:0008406	gonad development
GO:0008543	fibroblast growth factor receptor signaling pathway
GO:0009653	anatomical structure morphogenesis
GO:0038095	Fc-epsilon receptor signaling pathway
GO:0042476	odontogenesis
GO:0045087	innate immune response
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0048015	phosphatidylinositol-mediated signaling
GO:0051781	positive regulation of cell division
GO:0055026	negative regulation of cardiac muscle tissue development
GO:0060348	bone development
GO:0060563	neuroepithelial cell differentiation
GO:0071542	dopaminergic neuron differentiation