DTD2: D-Aminoacyl-tRNA Deacylase 2
A mitochondrial enzyme involved in translational quality control and linked to neurological disorders.
Gene Information Card
| Symbol | DTD2 |
|---|---|
| Full Name | D-Aminoacyl-tRNA Deacylase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q9Y2J8 |
| OMIM ID | 609790 |
| HGNC ID | 3053 |
| Aliases | DTD2, DTD, DTYMK, TYMK |
Description
DTD2 encodes a mitochondrial D-aminoacyl-tRNA deacylase that hydrolyzes D-aminoacyl-tRNA molecules, preventing the incorporation of D-amino acids into nascent polypeptides. This enzyme is critical for translational fidelity in mitochondria. Mutations in DTD2 are associated with mitochondrial dysfunction and neurological phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial encephalopathy | Loss of DTD2 function leads to accumulation of D-aminoacyl-tRNA, impairing mitochondrial translation and causing energy deficiency. | ClinVar; PMID: 25439727 |
| Leigh syndrome | Biallelic DTD2 variants disrupt mitochondrial protein synthesis, resulting in neurodegeneration. | OMIM; PMID: 25439727 |
| Developmental delay and seizures | Reduced DTD2 activity correlates with mitochondrial respiratory chain defects. | ClinVar; PMID: 25439727 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Liver | 6.3 | Low |
| Kidney | 8.1 | Medium |
| Skeletal muscle | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Detected |
| HEK293 | 9.5 | Detected |
| SH-SY5Y | 11.0 | Neuronal cell line, high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.152G>A (p.Arg51Gln) | Missense | Rare | Reduced deacylase activity; associated with Leigh syndrome |
| c.334C>T (p.Arg112Trp) | Missense | Rare | Loss of function; reported in mitochondrial encephalopathy |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein; severe neurological phenotype |
Mutation functional classification
Loss of Function (LOF)
Most reported DTD2 mutations are loss-of-function, impairing D-aminoacyl-tRNA deacylase activity and mitochondrial translation.
Gain of Function (GOF)
No gain-of-function mutations have been described for DTD2.
Dominant Negative (DN)
No dominant-negative effects have been reported; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • aminoacyl-tRNA editing activity (GO:0002161) |
| • hydrolase activity (GO:0016787) | • translation (GO:0006412) |
| • mitochondrial translation (GO:0032543) |
Pathways
• Mitochondrial translation
• tRNA aminoacylation and editing
Protein Summary
DTD2 is a 218-amino acid mitochondrial protein that belongs to the D-aminoacyl-tRNA deacylase family. It specifically removes D-amino acids mischarged on tRNAs, ensuring translational fidelity. The protein is ubiquitously expressed with higher levels in brain and heart. Structural studies reveal a conserved catalytic domain essential for substrate recognition.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DTD2 Knockout HEK293 Cell Line | EDJ-KQ7383 | Human | 112487 | Details Get a Quote |
| DTD2 Knockout HCT 116 Cell Line | EDJ-KQ31153 | Human | 112487 | Details Get a Quote |
| DTD2 Knockout A-549 Cell Line | EDJ-KQ32524 | Human | 112487 | Details Get a Quote |
| DTD2 Knockout HeLa Cell Line | EDJ-KQ32525 | Human | 112487 | Details Get a Quote |
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