CMTR2: Cap Methyltransferase 2
A key regulator of mRNA cap N7-methylation and RNA metabolism
Gene Information Card
| Symbol | CMTR2 |
|---|---|
| Full Name | Cap Methyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 55783 ncbi.nlm.nih.gov/gene/55783 |
| Ensembl ID | ENSG00000102931 |
| UniProt ID | Q8IYT8 |
| OMIM ID | 616520 |
| HGNC ID | 26273 |
| Aliases | FTSJD2, KIAA0082, MTr1 |
Description
CMTR2 encodes a cap methyltransferase that catalyzes the N7-methylation of the mRNA cap structure (m7G cap), a critical step in mRNA processing, stability, and translation initiation. The enzyme specifically methylates the guanine base at the 5' end of nascent RNA transcripts, contributing to efficient splicing, polyadenylation, and nuclear export. CMTR2 is widely expressed and plays a role in cellular stress responses and viral RNA recognition.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia (HSP) | Loss-of-function mutations in CMTR2 impair mRNA cap methylation, leading to defective RNA processing and axonal degeneration. | ClinVar, OMIM |
| Neurodevelopmental disorder with spasticity and brain anomalies | Biallelic CMTR2 variants disrupt cap methylation, affecting neuronal gene expression and development. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.3 | Medium |
| Heart | 8.7 | Low |
| Liver | 6.2 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 11.8 | Moderate expression |
| SH-SY5Y | 9.5 | Moderate expression |
| HepG2 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of methyltransferase domain |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; premature termination |
| c.890G>A (p.Arg297His) | Missense | Rare | Reduced catalytic activity; impaired cap methylation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated, non-functional protein, causing autosomal recessive neurodevelopmental disorders.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
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 pathway (Reactome: R-HSA-77075)
• Processing of capped intron-containing pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
CMTR2 is a 787-amino acid protein containing a methyltransferase domain and a nuclear localization signal. It functions as a homodimer to transfer a methyl group from S-adenosylmethionine to the N7 position of guanine in the mRNA cap. The protein is essential for proper RNA processing and has been implicated in neurological disorders when mutated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CMTR2 Knockout HEK293 Cell Line | EDJ-KQ12961 | Human | 55783 | Details Get a Quote |
| CMTR2 Knockout A-549 Cell Line | EDJ-KQ42172 | Human | 55783 | Details Get a Quote |
| CMTR2 Knockout HCT 116 Cell Line | EDJ-KQ42173 | Human | 55783 | Details Get a Quote |
| CMTR2 Knockout HeLa Cell Line | EDJ-KQ42174 | Human | 55783 | Details Get a Quote |
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