QTRT2: Queuine tRNA-Ribosyltransferase 2
A key enzyme in tRNA modification, linked to mitochondrial function and cancer metabolism.
Gene Information Card
| Symbol | QTRT2 |
|---|---|
| Full Name | Queuine tRNA-ribosyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q28 |
| NCBI Gene ID | 158471 ncbi.nlm.nih.gov/gene/158471 |
| Ensembl ID | ENSG00000163872 |
| UniProt ID | Q9H974 |
| OMIM ID | 611142 |
| HGNC ID | 25016 |
| Aliases | TGT, QTRT2, TGT2 |
Description
QTRT2 encodes the catalytic subunit of the tRNA-guanine transglycosylase (TGT) enzyme, which catalyzes the exchange of guanine with queuine in the anticodon loop of specific tRNAs. This modification is essential for accurate translation and is implicated in mitochondrial function and cellular stress responses. The gene is located on chromosome 3q28 and is expressed in various tissues, with highest levels in the thyroid and adrenal glands.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial encephalopathy | Defective queuosine modification leads to impaired mitochondrial translation and energy production. | ClinVar, OMIM |
| Colorectal cancer | Altered QTRT2 expression affects tRNA modification, promoting tumor growth and metastasis. | COSMIC, NCBI |
| Hepatocellular carcinoma | Downregulation of QTRT2 correlates with poor prognosis and altered metabolic pathways. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 12.5 | High |
| Adrenal gland | 10.2 | High |
| Liver | 6.8 | Medium |
| Kidney | 5.4 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.3 | Embryonic kidney cells |
| HepG2 | 7.1 | Hepatocellular carcinoma cells |
| MCF7 | 4.5 | Breast cancer cells |
| A549 | 3.2 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | 0.01% | Reduced enzyme activity; associated with mitochondrial disease |
| c.1456G>A (p.Gly486Ser) | Missense | 0.005% | Impaired tRNA binding; reported in colorectal cancer |
| c.1891_1893del (p.Lys631del) | In-frame deletion | 0.002% | Loss of function; observed in hepatocellular carcinoma |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that reduce or abolish TGT catalytic activity, leading to defective queuosine modification.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • tRNA-guanine transglycosylase activity | • tRNA modification |
| • queuosine biosynthetic process | • mitochondrion |
| • cytoplasm |
Pathways
• tRNA modification in the nucleus and mitochondria
• Queuosine biosynthesis
Protein Summary
QTRT2 encodes a 631-amino acid protein that forms a heterodimer with QTRT1 to constitute the active tRNA-guanine transglycosylase. The enzyme specifically replaces guanine with queuine at position 34 of tRNAs for Asp, Asn, His, and Tyr. This modification is critical for translational fidelity and is particularly important in mitochondria, where it influences oxidative phosphorylation. The protein is localized in both the cytoplasm and mitochondria.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| QTRT2 Knockout HEK293 Cell Line | EDJ-KQ3576 | Human | 79691 | Details Get a Quote |
| QTRT2 Knockout HCT 116 Cell Line | EDJ-KQ24085 | Human | 79691 | Details Get a Quote |
| QTRT2 Knockout A-549 Cell Line | EDJ-KQ25460 | Human | 79691 | Details Get a Quote |
| QTRT2 Knockout HeLa Cell Line | EDJ-KQ25462 | Human | 79691 | Details Get a Quote |
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