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FGF8 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. Defects in FGF8 are the cause of Kallmann syndrome type 6 (KAL6). Kallmann syndrome is a disorder that associates hypogonadotropic hypogonadism and anosmia. 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 some patients other developmental anomalies can be present, which include renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis. In some cases anosmia may be absent or inconspicuous. Defects in FGF8 are a cause of idiopathic hypogonadotropic hypogonadism (IHH). IHH is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function. Belongs to the heparin-binding growth factors family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cytokine; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 10q24.32
Cellular Component: external side of plasma membrane; extracellular region; intracellular
Molecular Function: 1-phosphatidylinositol-3-kinase activity; chemoattractant activity; fibroblast growth factor receptor binding; growth factor activity; phosphatidylinositol-4,5-bisphosphate 3-kinase activity; protein tyrosine kinase activity; Ras guanyl-nucleotide exchange factor activity
Biological Process: anatomical structure morphogenesis; apoptosis; blood vessel remodeling; BMP signaling pathway; branching involved in blood vessel morphogenesis; branching involved in ureteric bud morphogenesis; cell fate commitment; cell proliferation in forebrain; corticotropin hormone secreting cell differentiation; dorsal/ventral axon guidance; embryonic hindlimb morphogenesis; fibroblast growth factor receptor signaling pathway; forebrain dorsal/ventral pattern formation; forebrain morphogenesis; forebrain neuron development; gastrulation; gonad development; heart looping; induction of an organ; male genitalia development; MAPK cascade; mesodermal cell migration; mesonephros development; metanephros development; midbrain-hindbrain boundary development; motor axon guidance; negative regulation of cardiac muscle tissue development; negative regulation of neuron apoptosis; neural plate morphogenesis; odontogenesis; otic vesicle formation; pallium development; peptidyl-tyrosine phosphorylation; pharyngeal system development; phosphatidylinositol phosphorylation; phosphoinositide-mediated signaling; positive chemotaxis; positive regulation of cell differentiation; positive regulation of cell division; positive regulation of cell proliferation; positive regulation of GTPase activity; positive regulation of mitotic nuclear division; positive regulation of organ growth; regulation of odontogenesis of dentine-containing teeth; regulation of phosphatidylinositol 3-kinase signaling; response to drug; response to organic cyclic compound; response to oxidative stress; subpallium development; thyroid gland development; thyroid-stimulating hormone-secreting cell differentiation; Wnt receptor signaling pathway through beta-catenin
Disease: Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Reference #:  P55075 (UniProtKB)
Alt. Names/Synonyms: AIGF; Androgen-induced growth factor; FGF-8; FGF8; Fibroblast growth factor 8; fibroblast growth factor 8 (androgen-induced); HBGF-8; Heparin-binding growth factor 8; KAL6; MGC149376
Gene Symbols: FGF8
Molecular weight: 26,525 Da
Basal Isoelectric point: 10.44  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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