MRM2

Chr 7p22.3

mitochondrial rRNA methyltransferase 2

Aliases:: FJH1, RRMJ2
MANE:: ENST00000242257.14

OMIM: 606906 ↗NCBI: 29960 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MRM2 · Q9UI43

v62025-08-01

Predicted Aligned Error matrix for MRM2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.3/ 100

Confident

246 residues

Confidence breakdown

Very high(≥ 90)78%
Confident(70–90)9%
Low(50–70)1%
Very low(< 50)12%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

mitochondrial DNA depletion syndrome 17
0.46
mitochondrial DNA depletion syndrome
0.23
neuroblastoma
0.15
Abnormality of the skeletal system
0.11
retinitis pigmentosa
0.11
Progressive cone dystrophy
0.09
Cone rod dystrophy
0.09
atrial fibrillation
0.08
Leber congenital amaurosis
0.08
Familial exudative vitreoretinopathy
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

rRNA methyltransferase 2, mitochondrial

S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA (PubMed:25009282, PubMed:25074936, PubMed:35177605). This activity may require prior 2'-O-methylguanosine modification at position 1370 (Gm1370) by MRM3 (PubMed:35177605). Essential for late-stage assembly of mtLSU required for efficient translation of mitochondrial DNA encoded proteins; methyltransferase activity is not required for this function (PubMed:35177605). Essential for mitochondrial respiratory function (PubMed:35177605)