FGF8
entrez
2253
canonical
uniprot
P55075
canonical
ensembl
ENSG00000107831
resolver
ensp
ENSP00000321797
resolver
ensp
ENSP00000321945
resolver
ensp
ENSP00000340039
resolver
ensp
ENSP00000344306
resolver
ensp
ENSP00000484420
resolver
enst
ENST00000618991
resolver
genesymbol
FGF8
resolver
genesymbol_syn
AIGF
resolver
hgnc
HGNC:3686
resolver
uniprot
A0A087X1S5
resolver
uniprot
A1A514
resolver
uniprot
A1A515
resolver
uniprot
Q14915
resolver
uniprot
Q15766
resolver
uniprot_entry
A0A087X1S5_HUMAN
resolver
uniprot_entry
A1A515_HUMAN
resolver
uniprot_entry
FGF8_HUMAN
resolver
uniprot_sec
A1A514
resolver
uniprot_sec
Q14915
resolver
uniprot_sec
Q15766
resolver
amino_acid_sequence
MGSPRSALSCLLLHLLVLCLQAQEGPGRGPALGRELASLFRAGREPQGVSQQHVREQSLVTDQLSRRLIRTYQLYSRTSGKHVQVLANKRINAMAEDGDPFAKLIVETDTFGSRVRVRGAETGLYICMNKKGKLIAKSNGKGKDCVFTEIVLENNYTALQNAKYEGWYMAFTRKGRPRKGSKTRQHQREVHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLRGSQRTWAPEPR
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:18596921, ECO:0000269|PubMed:23643382}. Note=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). {ECO:0000269|PubMed:23643382}.; DISEASE: Hypoplastic femurs and pelvis (HYPOFP) [MIM:619545]: An autosomal dominant disorder characterized by isolated bilateral hypoplasia of the femoral and pelvic bones. {ECO:0000269|PubMed:34433009}. Note=The gene represented in this entry is involved in disease pathogenesis. Duplications encompassing the FGF8 locus have been found in unrelated families with isolated bilateral hypoplasia of the femoral and pelvic bone. The phenotype is most likely the result of position effects causing altered FGF8 expression rather than gene dosage. {ECO:0000269|PubMed:34433009}.
uniprot
proteins
function
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 (PubMed:16384934, PubMed:16597617, PubMed:8663044). Plays a role in neurite outgrowth in hippocampal cells (PubMed:21576111). {ECO:0000269|PubMed:16384934, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:21576111, ECO:0000269|PubMed:8663044}.
uniprot
proteins
mass_dalton
26525
uniprot
proteins
protein_family
Heparin-binding growth factors family
uniprot
proteins
pubmed
11341643
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16384934
uniprot
proteins
pubmed
16597617
uniprot
proteins
pubmed
18596921
uniprot
proteins
pubmed
20094046
uniprot
proteins
pubmed
21576111
uniprot
proteins
pubmed
23643382
uniprot
proteins
pubmed
34433009
uniprot
proteins
pubmed
7737407
uniprot
proteins
pubmed
8661131
uniprot
proteins
pubmed
8663044
uniprot
proteins
pubmed
8700553
uniprot
proteins
pubmed
8891346
uniprot
proteins
sequence_length
233
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins