MRM2: Mitochondrial rRNA Methyltransferase 2
A nuclear gene encoding a mitochondrial 16S rRNA methyltransferase involved in mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRM2 |
|---|---|
| Full Name | Mitochondrial rRNA Methyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q32.1 |
| NCBI Gene ID | 29960 ncbi.nlm.nih.gov/gene/29960 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q9UI43 |
| OMIM ID | 611718 |
| HGNC ID | 24967 |
| Aliases | RRMJ, FTSJ2, HSPC048, MRM2 |
Description
MRM2 encodes a mitochondrial 2'-O-ribose methyltransferase that specifically methylates the 16S rRNA at position G1145 within the mitochondrial ribosome. This modification is essential for proper mitochondrial translation and assembly of the oxidative phosphorylation complexes. The protein localizes to the mitochondrial matrix and is required for efficient mitochondrial protein synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 55 (COXPD55) | Loss-of-function mutations in MRM2 impair 16S rRNA methylation, leading to defective mitochondrial translation and reduced activity of respiratory chain complexes I, IV, and V. | ClinVar, OMIM |
| Mitochondrial encephalopathy | Biallelic MRM2 variants cause neurological symptoms including developmental delay, hypotonia, and seizures due to mitochondrial dysfunction. | ClinVar, OMIM |
| Leigh syndrome spectrum | MRM2 mutations have been reported in patients with Leigh-like features, associated with decreased mitochondrial ATP production. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Brain | 6.4 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.3 | Cervical adenocarcinoma |
| HEK293 | 8.7 | Embryonic kidney |
| K562 | 6.5 | Chronic myelogenous leukemia |
| HepG2 | 7.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.472C>T (p.Arg158Trp) | Missense | Rare | Loss of methyltransferase activity; associated with COXPD55 |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein; pathogenic |
| c.626G>A (p.Arg209His) | Missense | Rare | Reduced rRNA methylation; reported in Leigh syndrome |
Mutation functional classification
Loss of Function (LOF)
Most MRM2 pathogenic variants are loss-of-function, reducing or abolishing 16S rRNA methylation, leading to impaired mitochondrial translation and respiratory chain deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MRM2.
Dominant Negative (DN)
No dominant-negative effects have been described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial translation (Reactome: R-HSA-5368287)
• rRNA modification in the mitochondrion (Reactome: R-HSA-6790901)
• Oxidative phosphorylation (KEGG: hsa00190)
Protein Summary
MRM2 is a 299-amino acid mitochondrial methyltransferase that catalyzes the 2'-O-ribose methylation of guanosine 1145 in the mitochondrial 16S rRNA. This modification stabilizes the mitochondrial ribosome and is critical for accurate translation of mtDNA-encoded subunits of the oxidative phosphorylation system. The protein contains an S-adenosylmethionine (SAM)-binding domain and a catalytic domain typical of the SpoU methyltransferase family. Defects in MRM2 cause combined oxidative phosphorylation deficiency type 55, a severe multisystem mitochondrial disorder.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRM2 Knockout HEK293 Cell Line | EDJ-KQ9106 | Human | 29960 | Details Get a Quote |
| MRM2 Knockout A-549 Cell Line | EDJ-KQ35608 | Human | 29960 | Details Get a Quote |
| MRM2 Knockout HCT 116 Cell Line | EDJ-KQ35609 | Human | 29960 | Details Get a Quote |
| MRM2 Knockout HeLa Cell Line | EDJ-KQ35610 | Human | 29960 | Details Get a Quote |
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