TRMT112
tRNA Methyltransferase 112 Homolog
Gene Information Card
| Symbol | TRMT112 |
|---|---|
| Full Name | tRNA Methyltransferase 112 Homolog |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 51504 ncbi.nlm.nih.gov/gene/51504 |
| Ensembl ID | ENSG00000149380 |
| UniProt ID | Q9UI30 |
| OMIM ID | 616947 |
| HGNC ID | 25691 |
| Aliases | HSPC152, MST070, CGI-36, TRM112 |
Description
TRMT112 is a protein-coding gene that encodes a methyltransferase subunit involved in the modification of tRNA and other RNA molecules. It acts as a cofactor for several methyltransferases, including METTL5 and ALKBH8, and plays a role in translation regulation and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Loss of TRMT112 function impairs tRNA methylation, affecting translation fidelity and neuronal development. | ClinVar; PMID: 31585110 |
| Cancer (various) | Altered TRMT112 expression may influence methylation of oncogenic transcripts. | COSMIC; PMID: 29622463 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | High expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Loss of start codon, reduced protein expression |
| c.214C>T | Nonsense | <0.01% | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing tRNA methylation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • tRNA methyltransferase activity | • methylation |
| • RNA modification | • cytoplasm |
| • nucleus |
Pathways
• tRNA modification in the nucleus and cytoplasm
Protein Summary
TRMT112 is a small protein (approx. 15 kDa) that functions as a regulatory subunit for multiple methyltransferases. It is essential for the methylation of specific tRNAs and other RNAs, influencing translation efficiency and accuracy. The protein is conserved across eukaryotes and is expressed in many tissues.
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