InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FGF8

Summary

InnateDB Protein

IDBP-87426.7

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

ENSP00000321797

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
GO:0042056	chemoattractant activity

Biological Process

GO:0000165	MAPK cascade
GO:0001569	patterning of blood vessels
GO:0001656	metanephros development
GO:0001658	branching involved in ureteric bud morphogenesis
GO:0001759	organ induction
GO:0001822	kidney development
GO:0001823	mesonephros development
GO:0001839	neural plate morphogenesis
GO:0001947	heart looping
GO:0001974	blood vessel remodeling
GO:0003007	heart morphogenesis
GO:0003148	outflow tract septum morphogenesis
GO:0003151	outflow tract morphogenesis
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0006915	apoptotic process
GO:0006979	response to oxidative stress
GO:0007173	epidermal growth factor receptor signaling pathway
GO:0007368	determination of left/right symmetry
GO:0007369	gastrulation
GO:0007507	heart development
GO:0008045	motor neuron axon guidance
GO:0008078	mesodermal cell migration
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:0009792	embryo development ending in birth or egg hatching
GO:0010628	positive regulation of gene expression
GO:0014070	response to organic cyclic compound
GO:0021537	telencephalon development
GO:0021543	pallium development
GO:0021544	subpallium development
GO:0021798	forebrain dorsal/ventral pattern formation
GO:0021846	cell proliferation in forebrain
GO:0021884	forebrain neuron development
GO:0021954	central nervous system neuron development
GO:0023019	signal transduction involved in regulation of gene expression
GO:0030324	lung development
GO:0030509	BMP signaling pathway
GO:0030539	male genitalia development
GO:0030878	thyroid gland development
GO:0030916	otic vesicle formation
GO:0030917	midbrain-hindbrain boundary development
GO:0033563	dorsal/ventral axon guidance
GO:0035050	embryonic heart tube development
GO:0035108	limb morphogenesis
GO:0035116	embryonic hindlimb morphogenesis
GO:0035909	aorta morphogenesis
GO:0038095	Fc-epsilon receptor signaling pathway
GO:0042472	inner ear morphogenesis
GO:0042476	odontogenesis
GO:0042487	regulation of odontogenesis of dentin-containing tooth
GO:0042493	response to drug
GO:0043066	negative regulation of apoptotic process
GO:0043524	negative regulation of neuron apoptotic process
GO:0045087	innate immune response
GO:0045165	cell fate commitment
GO:0045840	positive regulation of mitosis
GO:0046622	positive regulation of organ growth
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0048015	phosphatidylinositol-mediated signaling
GO:0048699	generation of neurons
GO:0048853	forebrain morphogenesis
GO:0050918	positive chemotaxis
GO:0051781	positive regulation of cell division
GO:0055026	negative regulation of cardiac muscle tissue development
GO:0060037	pharyngeal system development
GO:0060070	canonical Wnt signaling pathway
GO:0060128	corticotropin hormone secreting cell differentiation
GO:0060129	thyroid-stimulating hormone-secreting cell differentiation
GO:0060348	bone development
GO:0060425	lung morphogenesis
GO:0060445	branching involved in salivary gland morphogenesis
GO:0060563	neuroepithelial cell differentiation
GO:0071542	dopaminergic neuron differentiation
GO:0090134	cell migration involved in mesendoderm migration