| Entrez Gene ID | 348180 |
|---|---|
| Official Gene Symbol | CTU2 (GeneCards) |
| Full name | cytosolic thiouridylase subunit 2 |
| Location | 16q24.3 |
| Other ids | Vega : OTTHUMG00000173417 MIM : 617057 HGNC : HGNC:28005 Ensembl : ENSG00000174177 |
| Other names | NCS2, UPF0432, C16orf84 |
| Summary | This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29210 | 348180 | CTU2 | 16 | 88779854 | 88779854 | Autism Spectrum Disorders | PASM |