DTWD2: DTW Domain Containing 2
A gene encoding a protein with a DTW domain, involved in tRNA modification and potential links to cellular stress responses.
Gene Information Card
| Symbol | DTWD2 |
|---|---|
| Full Name | DTW domain containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 285605 ncbi.nlm.nih.gov/gene/285605 |
| Ensembl ID | ENSG00000164362 |
| UniProt ID | Q8N5K1 |
| OMIM ID | 617135 |
| HGNC ID | 28307 |
| Aliases | FLJ22662, MGC138499 |
Description
DTWD2 (DTW domain containing 2) is a protein-coding gene located on chromosome 5q31.1. The encoded protein contains a DTW domain, which is implicated in tRNA modification, specifically in the formation of 2-thiouridine in tRNAs. DTWD2 is broadly expressed in various tissues and may play a role in cellular stress responses and translation regulation. Limited direct disease associations have been reported, but its function in tRNA modification suggests potential links to neurological and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No established disease associations | Not applicable | No curated evidence in OMIM, ClinVar, or COSMIC as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 5.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
| Heart | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.5 | Moderate expression |
| HeLa | 4.2 | Low expression |
| K562 | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants curated | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function variants.
Dominant Negative (DN)
No documented dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
| • tRNA modification | • 2-thiouridine biosynthesis |
| • cytoplasm | • nucleus |
| • protein binding |
Pathways
• tRNA modification pathway
Protein Summary
The DTWD2 protein (UniProt Q8N5K1) is a 365-amino acid polypeptide that localizes to the cytoplasm and nucleus. It contains a DTW domain characteristic of proteins involved in tRNA thiouridine synthesis. The protein is predicted to function as a sulfurtransferase, catalyzing the conversion of uridine to 2-thiouridine in tRNAs, which is critical for translational fidelity. Structural studies suggest it may form homodimers or interact with other tRNA modification enzymes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DTWD2 Knockout HEK293 Cell Line | EDJ-KQ13219 | Human | 285605 | Details Get a Quote |
| DTWD2 Knockout HeLa Cell Line | EDJ-KQ41366 | Human | 285605 | Details Get a Quote |
| DTWD2 Knockout A-549 Cell Line | EDJ-KQ42589 | Human | 285605 | Details Get a Quote |
| DTWD2 Knockout HCT 116 Cell Line | EDJ-KQ42590 | Human | 285605 | Details Get a Quote |
| DTWD1 & DTWD2 Knockout HEK293 Cell Line | EDC08269 | Human | 56986 & 285605 | Details Get a Quote |
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