TMX2
Chr 11ARthioredoxin related transmembrane protein 2
Also known as: CGI-31, NEDMCMS, PDIA12, PIG26, TXNDC14
The protein is a disulfide isomerase that catalyzes protein folding and thiol-disulfide reactions in the endoplasmic reticulum and regulates cellular redox state, protein folding, and mitochondrial activity. Biallelic mutations cause neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.47), indicating intolerance to protein-disrupting changes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TMX2 · 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