CTU2
Chr 16cytosolic thiouridylase subunit 2
Also known as: C16orf84, MFRG, NCS2, UPF0432
This protein performs 2-thiolation of specific uridine residues at wobble positions in tRNAs, which enhances codon reading accuracy during protein synthesis. Biallelic mutations cause microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome with autosomal recessive inheritance. The gene is not highly constrained against loss-of-function variants, which is consistent with its recessive inheritance pattern.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
200 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 | 10 | 0 | 10 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 1 | 105 | 9 | 0 | 115 |
Likely Benign | 1 | 4 | 19 | 19 | 43 |
Benign | 0 | 1 | 1 | 1 | 3 |
Conflicting | — | 4 | |||
| Total | 2 | 110 | 39 | 20 | 175 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CTU2 · 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