GID8

Chr 20

GID complex subunit 8 homolog

Also known as: C20orf11, TWA1

NCBI Gene: 54994ENSG00000101193UniProt: Q9NWU2OMIM: 611625

Predicted to enable protein homodimerization activity. Involved in positive regulation of canonical Wnt signaling pathway and positive regulation of cell population proliferation. Located in cell junction; cytosol; and nucleoplasm. Part of ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
LOEUF 0.36
Clinical Summary— GID8
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.94). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.36LOEUF
pLI 0.940
Z-score 3.13
OE 0.08 (0.03–0.36)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.47Z-score
OE missense 0.41 (0.33–0.51)
57 obs / 139.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.08 (0.03–0.36)
0≤0.351.4
Missense OE?0.41 (0.33–0.51)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 1 / 13.3Missense obs/exp: 57 / 139.0Syn Z: -0.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GID8 · 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

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients