TRIB1
Chr 8tribbles pseudokinase 1
Also known as: C8FW, GIG-2, GIG2, SKIP1, TRB-1, TRB1
The TRIB1 protein functions as an adapter that regulates protein degradation by directing COP1 ubiquitin ligase activity toward specific substrates like CEBPA, and controls myeloid cell differentiation including macrophages, eosinophils, and neutrophils. Mutations in TRIB1 cause autosomal dominant intellectual disability with macrocephaly, seizures, and behavioral abnormalities. This gene is highly constrained against loss-of-function variants, indicating that haploinsufficiency is likely not well-tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TRIB1 · 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