TRMT2A Gene: tRNA Methyltransferase 2 Homolog A
Genetic and Functional Insights into TRMT2A, a tRNA Modification Enzyme
Gene Information Card
| Symbol | TRMT2A |
|---|---|
| Full Name | tRNA methyltransferase 2 homolog A |
| Gene Type | protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 27037 ncbi.nlm.nih.gov/gene/27037 |
| Ensembl ID | ENSG00000100360 |
| UniProt ID | Q8IZ69 |
| OMIM ID | 610769 |
| HGNC ID | 19987 |
| Aliases | HTF9C, RP11-115J16.1 |
Description
TRMT2A encodes a tRNA methyltransferase that catalyzes the methylation of guanosine at position 26 (m2G26) in tRNA molecules. This modification is important for tRNA stability and proper protein translation. The gene is located on chromosome 22q11.21 and is expressed in various tissues. TRMT2A has been implicated in several diseases, including cancer and neurological disorders, though its precise role is still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered expression; potential role in tumor progression | COSMIC: mutations and expression changes observed in colorectal cancer samples |
| Breast Cancer | Overexpression; may affect cell proliferation | COSMIC: copy number alterations and expression changes |
| Intellectual Disability | Possible involvement in neurodevelopment | ClinVar: rare variants reported in patients with intellectual disability |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line; moderate expression |
| A549 | 7.8 | Lung carcinoma; low expression |
| MCF7 | 9.5 | Breast cancer; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Trp) | Missense | 0.01% | Potential loss of function; associated with intellectual disability |
| c.456_457insA (p.Thr153AsnfsTer2) | Frameshift | 0.005% | Loss of function; observed in cancer samples |
| c.789G>A (p.Val263Ile) | Missense | 0.02% | Uncertain significance; possibly benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to reduced or absent protein function, impairing tRNA methylation.
Gain of Function (GOF)
No evidence for gain-of-function mutations in TRMT2A.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • tRNA (guanine-N2-)-methyltransferase activity | • tRNA binding |
| • methyltransferase activity | • cytoplasm |
| • nucleus |
Pathways
• tRNA modification
• Gene expression (translation)
Protein Summary
The TRMT2A protein is a 299-amino acid enzyme that belongs to the methyltransferase family. It contains a conserved methyltransferase domain and is localized to the cytoplasm and nucleus. The protein catalyzes the formation of N2-methylguanine at position 26 of tRNA, which is crucial for tRNA stability and accurate translation. Structural studies suggest it functions as a monomer, and its activity is dependent on S-adenosylmethionine (SAM) as a methyl donor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRMT2A Knockout HEK293 Cell Line | EDJ-KQ51200 | Human | 27037 | Details Get a Quote |
| TRMT2A Knockout HeLa Cell Line | EDJ-KQ55991 | Human | 27037 | Details Get a Quote |
| TRMT2A Knockout A-549 Cell Line | EDJ-KQ64475 | Human | 27037 | Details Get a Quote |
| TRMT2A Knockout HCT 116 Cell Line | EDJ-KQ72933 | Human | 27037 | Details Get a Quote |
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