TAB3
Chr XTGF-beta activated kinase 1 (MAP3K7) binding protein 3
Also known as: MAP3K7IP3, NAP1
The encoded protein functions as an adapter in NF-κB and JNK signaling pathways by recognizing specific polyubiquitin chains and linking MAP3K7/TAK1 to TRAF6, facilitating inflammatory signaling cascades. TAB3 variants cause neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (NEDMEBA), which follows autosomal recessive inheritance and presents in early childhood. The gene shows high constraint against loss-of-function variants (LOEUF 0.42), indicating intolerance to such changes in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
237 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 71 | 0 | 71 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 51 | 7 | 0 | 58 |
Likely Benign | 0 | 0 | 0 | 2 | 2 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 51 | 80 | 2 | 133 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TAB3 · 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