TRIM8
Chr 10tripartite motif containing 8
Also known as: FSGSNEDS, GERP, RNF27
The protein functions as an E3 ubiquitin-protein ligase that regulates innate immune signaling pathways, including interferon-gamma, TNF-alpha, and IL-1beta responses, by targeting specific proteins for ubiquitination and degradation. Mutations cause focal segmental glomerulosclerosis and neurodevelopmental syndrome with autosomal dominant inheritance, affecting both kidney and neurological development. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.26), indicating that most protein-truncating variants are likely pathogenic.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TRIM8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools