FGF8

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq]

fibroblast growth factor 8 (androgen-induced)

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 (PubMed:16384934, PubMed:16597617, PubMed:8663044).

Plays a role in neurite outgrowth in hippocampal cells (PubMed:21576111).

Anatomical structure morphogenesis Source: UniProtKB
Animal organ morphogenesis Source: GO_Central
Aorta morphogenesis Source: Ensembl
Blood vessel remodeling Source: Ensembl
Bone development Source: UniProtKB
Branching involved in blood vessel morphogenesis Source: Ensembl
Branching involved in salivary gland morphogenesis Source: Ensembl
Branching involved in ureteric bud morphogenesis Source: Ensembl
Cell differentiation Source: GO_Central
Cell fate commitment Source: Ensembl
Cell migration involved in mesendoderm migration Source: Ensembl
Cell proliferation in forebrain Source: Ensembl
Corticotropin hormone secreting cell differentiation Source: Ensembl
Dopaminergic neuron differentiation Source: UniProtKB
Dorsal/ventral axon guidance Source: Ensembl
Dorsal/ventral pattern formation Source: GO_Central
Embryonic heart tube development Source: GO_Central
Embryonic hindlimb morphogenesis Source: Ensembl
Embryonic neurocranium morphogenesis Source: Ensembl
Epithelial to mesenchymal transition involved in endocardial cushion formation Source: BHF-UCL
Fibroblast growth factor receptor signaling pathway Source: MGI
Forebrain dorsal/ventral pattern formation Source: Ensembl
Forebrain morphogenesis Source: Ensembl
Forebrain neuron development Source: Ensembl
Gastrulation Source: UniProtKB
Gonad development Source: UniProtKB
Heart looping Source: Ensembl
Heart morphogenesis Source: GO_Central
Larynx morphogenesis Source: Ensembl
Limb morphogenesis Source: GO_Central
Lung morphogenesis Source: Ensembl
Male genitalia development Source: Ensembl
MAPK cascade Source: Ensembl
Mesodermal cell migration Source: Ensembl
Mesonephros development Source: UniProtKB
Metanephros development Source: UniProtKB
Midbrain-hindbrain boundary development Source: Ensembl
Motor neuron axon guidance Source: Ensembl
Negative regulation of cardiac muscle tissue development Source: BHF-UCL
Negative regulation of neuron apoptotic process Source: Ensembl
Neural plate morphogenesis Source: Ensembl
Neuroepithelial cell differentiation Source: UniProtKB
Neuron differentiation Source: GO_Central
Odontogenesis Source: UniProtKB
Organ induction Source: Ensembl
Otic vesicle formation Source: Ensembl
Outflow tract septum morphogenesis Source: UniProtKB
Pallium development Source: Ensembl
Pharyngeal system development Source: Ensembl
Positive regulation of cell differentiation Source: ParkinsonsUK-UCL
Positive regulation of cell division Source: UniProtKB-KW
Positive regulation of cell population proliferation Source: UniProtKB
Positive regulation of ERK1 and ERK2 cascade Source: Ensembl
Positive regulation of gene expression Source: GO_Central
Positive regulation of G protein-coupled receptor signaling pathway Source: Ensembl
Positive regulation of mitotic nuclear division Source: Ensembl
Positive regulation of organ growth Source: Ensembl
Positive regulation of peptidyl-tyrosine phosphorylation Source: Ensembl
Positive regulation of protein phosphorylation Source: GO_Central
Regulation of cell migration Source: GO_Central
Regulation of odontogenesis of dentin-containing tooth Source: Ensembl
Response to drug Source: Ensembl
Response to organic cyclic compound Source: Ensembl
Response to oxidative stress Source: Ensembl
Signal transduction involved in regulation of gene expression Source: Ensembl
Subpallium development Source: Ensembl
Thyroid gland development Source: Ensembl
Thyroid-stimulating hormone-secreting cell differentiation Source: Ensembl

Secreted

Hypogonadotropic hypogonadism 6 with or without anosmia (HH6):
The disease is caused by variants 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).
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).