FGF8 Chromosome 10
Fibroblast growth factor 8
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What This Gene Does
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, Jul 2008]
Gene Info
Gene Group
"Receptor ligands|Fibroblast growth factor family"
Locus Type
gene with protein product
Location
10q24.32
Ensembl
ENSG00000107831
Associated Conditions (9)
Hypogonadotropic hypogonadism 6 with or without anosmia
Holoprosencephaly 1
Holoprosencephaly sequence
FGF8-related disorder
Inborn genetic diseases
Peters plus syndrome
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Semilobar holoprosencephaly
See cases
Key Variants
RS137852660
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 6 with or without anosmia, Hypogonadotropic hypogonadism 6 with or without anosmia
Health Risk
RS137852664
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 6 with or without anosmia, Holoprosencephaly 1, Hypogonadotropic hypogonadism 6 with or without anosmia
Health Risk
RS1554834321
Conflicting classifications of pathogenicity
Holoprosencephaly sequence, Holoprosencephaly sequence
Health Risk
RS606231408
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 6 with or without anosmia, FGF8-related disorder, Hypogonadotropic hypogonadism 6 with or without anosmia
Health Risk
RS61730334
Conflicting classifications of pathogenicity
Holoprosencephaly sequence, Holoprosencephaly sequence
Health Risk
RS762175290
Conflicting classifications of pathogenicity
Holoprosencephaly sequence, Hypogonadotropic hypogonadism 6 with or without anosmia, FGF8-related disorder
Health Risk
RS769756528
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781205876
Conflicting classifications of pathogenicity
Holoprosencephaly sequence, Peters plus syndrome, Holoprosencephaly sequence
Health Risk
RS1057524676
Likely pathogenic
Health Risk
RS139565972
Likely pathogenic
Holoprosencephaly sequence, Holoprosencephaly sequence
Health Risk
RS1490604080
Likely pathogenic
Holoprosencephaly sequence, Holoprosencephaly sequence
Health Risk
RS1554834303
Likely pathogenic
Hypogonadotropic hypogonadism 6 with or without anosmia, Hypogonadotropic hypogonadism 6 with or without anosmia
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137852660 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 6 with or without anosmia, Hypogonadotropic hypogonadism 6 with or without anosmia |
| RS137852664 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 6 with or without anosmia, Holoprosencephaly 1, Hypogonadotropic hypogonadism 6 with or without anosmia |
| RS1554834321 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly sequence, Holoprosencephaly sequence |
| RS606231408 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 6 with or without anosmia, FGF8-related disorder, Hypogonadotropic hypogonadism 6 with or without anosmia |
| RS61730334 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly sequence, Holoprosencephaly sequence |
| RS762175290 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly sequence, Hypogonadotropic hypogonadism 6 with or without anosmia, FGF8-related disorder |
| RS769756528 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781205876 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly sequence, Peters plus syndrome, Holoprosencephaly sequence |
| RS1057524676 | Health Risk | Likely pathogenic | — |
| RS139565972 | Health Risk | Likely pathogenic | Holoprosencephaly sequence, Holoprosencephaly sequence |
| RS1490604080 | Health Risk | Likely pathogenic | Holoprosencephaly sequence, Holoprosencephaly sequence |
| RS1554834303 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 6 with or without anosmia, Hypogonadotropic hypogonadism 6 with or without anosmia |
| RS1554834889 | Health Risk | Likely pathogenic | Holoprosencephaly sequence, Holoprosencephaly sequence |
| RS1554834892 | Health Risk | Likely pathogenic | Holoprosencephaly sequence, Holoprosencephaly sequence |
| RS537681304 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS876661328 | Health Risk | Likely pathogenic | Semilobar holoprosencephaly, Semilobar holoprosencephaly |
| RS876661329 | Health Risk | Likely pathogenic | Semilobar holoprosencephaly, Holoprosencephaly sequence, Hypogonadotropic hypogonadism 6 with or without anosmia |
| RS876661331 | Health Risk | Likely pathogenic | Holoprosencephaly sequence, See cases, Holoprosencephaly sequence |
| RS137852659 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 6 with or without anosmia, Hypogonadotropic hypogonadism 6 with or without anosmia |
| RS137852661 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 6 with or without anosmia, Hypogonadotropic hypogonadism 6 with or without anosmia |
| RS137852662 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 6 with or without anosmia, Hypogonadotropic hypogonadism 6 with or without anosmia |
| RS137852663 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 6 with or without anosmia, Hypogonadotropic hypogonadism 6 with or without anosmia, Hypogonadotropic hypogonadism 6 with or without anosmia |
| RS2539366540 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS876661330 | Health Risk | Pathogenic/Likely pathogenic | Holoprosencephaly sequence, Hypogonadotropic hypogonadism 6 with or without anosmia, Holoprosencephaly sequence |