FGF8

Chr 10

fibroblast growth factor 8

Also known as: AIGF, FGF-8, HBGF-8, HH6, KAL6

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypogonadotropic hypogonadism 6 with or without anosmia
UniProtHypoplastic femurs and pelvis

Clinical highlights

Gene-disease validity (ClinGen)
congenital heart disease · ADModerateconsider for supplementary testing
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
77
Pubs (1 yr)
P/LP submissions
P/LP missense
0.51
LOEUF
LOF
Mechanism· predicted
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GeneReview available — FGF8
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.51LOEUF
pLI 0.677
Z-score 2.73
OE 0.16 (0.070.51)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.57Z-score
OE missense 0.64 (0.550.76)
99 obs / 153.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.16 (0.070.51)
00.351.4
Missense OE?0.64 (0.550.76)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 2 / 12.4Missense obs/exp: 99 / 153.7Syn Z: 0.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FGF8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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