RNMT (RNA Guanine-7 Methyltransferase)
Key regulator of mRNA cap methylation and gene expression
Gene Information Card
| Symbol | RNMT |
|---|---|
| Full Name | RNA guanine-7 methyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 18p11.23 |
| NCBI Gene ID | 8731 ncbi.nlm.nih.gov/gene/8731 |
| Ensembl ID | ENSG00000101473 |
| UniProt ID | O43148 |
| OMIM ID | 603514 |
| HGNC ID | 10073 |
| Aliases | MET, hCMT1, CMT1, MGC104235 |
Description
The RNMT gene encodes RNA guanine-7 methyltransferase, the enzyme responsible for catalyzing the addition of a methyl group to the N7 position of guanine in the mRNA cap structure. This cap methylation is essential for mRNA stability, nuclear export, and efficient translation. RNMT is a key component of the cap methyltransferase complex and is critical for proper gene expression in eukaryotic cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Overexpression of RNMT promotes mRNA cap methylation, enhancing translation of oncogenic transcripts | NCBI Gene, COSMIC |
| Developmental disorders | Mutations in RNMT may impair cap methylation, leading to altered gene expression | OMIM |
| Intellectual disability | Rare variants in RNMT associated with neurodevelopmental phenotypes | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Brain | 32.1 | Medium |
| Liver | 28.7 | Medium |
| Heart | 22.5 | Medium |
| Lung | 18.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 35.4 | Embryonic kidney |
| HeLa | 30.2 | Cervical cancer |
| HepG2 | 27.8 | Liver cancer |
| K562 | 22.1 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Potential loss of function |
| c.245C>T | Nonsense | <0.01% | Premature truncation |
| c.678G>A | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Rare nonsense and missense variants may reduce methyltransferase activity, impairing mRNA cap methylation.
Gain of Function (GOF)
Not well documented; overexpression in cancer may act as a gain-of-function mechanism.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • mRNA (guanine-N7-)-methyltransferase activity (GO:0004482) | • 7-methylguanosine mRNA capping (GO:0006370) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • RNA binding (GO:0003723) |
Pathways
• mRNA Capping (Reactome: R-HSA-77075)
• Gene Expression (Reactome: R-HSA-74160)
Protein Summary
RNMT is a 476-amino acid protein that functions as a monomeric methyltransferase. It uses S-adenosylmethionine (SAM) as a methyl donor to methylate the N7 position of guanine in the mRNA cap. The enzyme is localized primarily in the nucleus and is essential for cell viability. RNMT interacts with the cap-binding complex and is regulated by phosphorylation.
Related Services
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|---|---|---|---|---|
| No Data | ||||
