CTU2
Cytosolic Thiouridylase Subunit 2
Gene Information Card
| Symbol | CTU2 |
|---|---|
| Full Name | Cytosolic Thiouridylase Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 348180 ncbi.nlm.nih.gov/gene/348180 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q2VPK5 |
| OMIM ID | 617057 |
| HGNC ID | 26505 |
| Aliases | ATPBD3, C16orf40, NCS6 |
Description
CTU2 encodes the cytosolic thiouridylase subunit 2, a component of the tRNA thiolation complex that catalyzes the 2-thiolation of 5-methoxycarbonylmethyl-2-thiouridine (mcm5s2U) at the wobble position of certain tRNAs. This modification is essential for accurate codon-anticodon pairing and translational fidelity. CTU2 interacts with CTU1 to form the functional thiouridylase enzyme.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly, intellectual disability, and developmental delay | Loss-of-function mutations in CTU2 impair tRNA thiolation, leading to defective translation of genes critical for neurodevelopment. | PMID: 31006510; ClinVar |
| Autosomal recessive intellectual disability type 2 (MRT2) | Homozygous missense and nonsense variants in CTU2 disrupt tRNA modification, affecting protein synthesis in neurons. | OMIM #617057; PMID: 31006510 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | Medium |
| Brain | 9.8 | Medium |
| Thyroid | 8.5 | Medium |
| Liver | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.5 | High expression |
| HeLa | 10.1 | Moderate expression |
| SH-SY5Y | 9.4 | Neuronal cell line |
| HepG2 | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
| c.208C>T (p.Arg70*) | Nonsense | Rare | Premature truncation |
| c.572G>A (p.Arg191Gln) | Missense | Rare | Impaired thiolation activity |
Mutation functional classification
Loss of Function (LOF)
Most CTU2 mutations are loss-of-function, leading to reduced or absent tRNA thiolation and translational defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • tRNA thiolation | • tRNA wobble uridine modification |
| • ATP binding | • cytosol |
| • protein homodimerization activity |
Pathways
• tRNA modification in the nucleus and cytosol
• Sulfur relay system
Protein Summary
CTU2 is a 346-amino acid protein that localizes to the cytosol. It contains an ATP-binding domain and forms a heterodimer with CTU1. The complex catalyzes the ATP-dependent 2-thiolation of uridine at the wobble position of tRNAs specific for lysine, glutamate, and glutamine. This modification is critical for maintaining translational accuracy and efficiency.
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