ZSWIM2
Chr 2zinc finger SWIM-type containing 2
Also known as: MEX, ZZZ2
The protein functions as an E3 ubiquitin-protein ligase that regulates Fas-, DR3- and DR4-mediated apoptosis by working with specific E2 ubiquitin-conjugating enzymes. Mutations cause autosomal recessive primary microcephaly, a neurodevelopmental disorder characterized by significantly reduced head circumference present from birth. The gene shows extreme intolerance to loss-of-function variants, indicating it is essential for normal human development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ZSWIM2 · 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 →No open access results found
External Resources
Links to major genomics databases and tools