THOC2
Chr XX-linkedTHO complex subunit 2
Also known as: AMC7, CXorf3, MRX12, MRX35, THO2, XLID12, dJ506G2.1, hTREX120
The protein is a member of the THO complex that binds to spliced mRNAs and facilitates their export from the nucleus. Loss-of-function mutations cause X-linked intellectual developmental disorder (Kumar type) and X-linked arthrogryposis multiplex congenita type 7. The inheritance pattern is X-linked, with the mechanism of pathogenicity being loss of function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Extremely missense-constrained (top ~0.01%)
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
THOC2 · 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