TRMT11: tRNA Methyltransferase 11 Homolog
A gene encoding a tRNA methyltransferase involved in RNA modification and potential links to cancer and developmental disorders.
Gene Information Card
| Symbol | TRMT11 |
|---|---|
| Full Name | tRNA methyltransferase 11 homolog |
| Gene Type | protein-coding |
| Chromosomal Location | 6q22.33 |
| NCBI Gene ID | 60487 ncbi.nlm.nih.gov/gene/60487 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q7Z4H3 |
| OMIM ID | 617661 |
| HGNC ID | 25964 |
| Aliases | MGC13170, TRM11, hTRM11 |
Description
TRMT11 (tRNA methyltransferase 11 homolog) encodes a protein that catalyzes the methylation of guanosine at position 10 (m2G10) in tRNA. This modification is important for tRNA stability and proper translation. The gene is located on chromosome 6q22.33 and is expressed in various tissues. Mutations in TRMT11 have been associated with neurodevelopmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and seizures | Loss-of-function mutations impair tRNA methylation, affecting protein synthesis in neurons | ClinVar, OMIM |
| Colorectal cancer | Somatic mutations and altered expression may contribute to tumorigenesis via dysregulated translation | COSMIC, NCBI |
| Breast cancer | Overexpression observed in some subtypes; potential role in proliferation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
| Kidney | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.5 | Cervical cancer cells |
| K562 | 6.3 | Leukemia cells |
| HepG2 | 5.9 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.215C>T (p.Pro72Leu) | Missense | 0.01% | Reduced enzyme activity |
| c.487G>A (p.Gly163Arg) | Missense | 0.005% | Impaired tRNA binding |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro72Leu) reduce methyltransferase activity, leading to hypomodified tRNAs and translational defects.
Gain of Function (GOF)
No gain-of-function mutations reported in TRMT11.
Dominant Negative (DN)
No dominant-negative mutations reported in TRMT11.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • RNA methyltransferase activity (GO:0008173) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
| • tRNA modification (GO:0006400) | • tRNA methylation (GO:0030488) |
Pathways
• tRNA modification in the nucleus and cytoplasm
• RNA methylation
Protein Summary
The TRMT11 protein is a tRNA methyltransferase that specifically methylates guanosine at position 10 (m2G10) in tRNA. This modification is conserved across eukaryotes and is essential for tRNA folding, stability, and accurate translation. The protein localizes to both the nucleus and cytoplasm. Structural studies indicate a Rossmann-fold domain typical of methyltransferases. Dysregulation of TRMT11 is linked to neurodevelopmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRMT11 Knockout HEK293 Cell Line | EDJ-KQ15944 | Human | 60487 | Details Get a Quote |
| TRMT11 Knockout A-549 Cell Line | EDJ-KQ46962 | Human | 60487 | Details Get a Quote |
| TRMT11 Knockout HCT 116 Cell Line | EDJ-KQ46963 | Human | 60487 | Details Get a Quote |
| TRMT11 Knockout HeLa Cell Line | EDJ-KQ46964 | Human | 60487 | Details Get a Quote |
