TAG for FGF8

Gene content

Symbol

FGF8 ( by HUGO)

Name

Fibroblast Growth Factor 8 (Androgen-Induced)

Category

Oncogene

Alias

Fibroblast Growth Factor 8 (Androgen-Induced)
Androgen-Induced Growth Factor
Heparin-Binding Growth Factor 8
AIGF
FGF-8
HBGF-8
HH6
KAL6
Fibroblast Growth Factor 8

Cytogenetic band

NCBI: 10q24 Ensembl: 10q24.32

Protein information

FGF8_HUMAN

Size: 233 amino acids

Mass: 26525 Da

Subunit: Monomer. Homodimer. Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors Developmental stage: In adults expression is restricted to the gonads 1 PDB 3D structure from [IMAGE] and Proteopedia [IMAGE] for FGF8: 2FDB (3D) [IMAGE]

Function:

UniProtKB/Swiss-Prot Summary: FGF8_HUMAN, P55075 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

Similarity:

Belongs to the heparin-binding growth factors family [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR002209	Fibroblast_GF_fam	Heparin-binding growth factor/Fibroblast growth factor	Family
InterPro	IPR008996	Cytokine_IL1-like	Cytokine, IL-1 related	Family
Blocks	IPB002348	IL1/HBGF family signature	IL1/HBGF family signature

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	anatomical structure morphogenesis	NAS	GOA	8595889
	bone development	IMP	GOA	18596921
	dopaminergic neuron differentiation	IDA	GOA	15193767
	fibroblast growth factor receptor signaling pathway	IGI	GOA	8663044
	gastrulation	NAS	GOA	8700553
	gonad development	IMP	GOA	18596921
	mesonephros development	IEP	GOA	18437684
	metanephros development	IEP	GOA	18437684
	neuroepithelial cell differentiation	IDA	GOA	17309880
	odontogenesis	IEP	GOA	17394220
	positive regulation of cell proliferation	IDA	GOA	17265164
Cellular Component	extracellular space	IDA	GOA	8891346
Molecular Function	growth factor activity	IDA	GOA	17265164
	type 1 fibroblast growth factor receptor binding	IDA	GOA	16384934
	type 2 fibroblast growth factor receptor binding	IDA	GOA	16384934

Disorder & Mutation
Source	Disease
SWISS-PROT	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). 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)

FGF8 cross reference