MRM2

Chr 7AR

mitochondrial rRNA methyltransferase 2

Also known as: FJH1, FTSJ2, HEL97, MTDPS17, RRMJ2

The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene has been suggested to be involved in cell cycle control and DNA repair. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial DNA depletion syndrome 17MIM #618567
AR
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.57
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.57LOEUF
pLI 0.000
Z-score 0.46
OE 0.82 (0.451.57)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.09Z-score
OE missense 0.98 (0.861.12)
150 obs / 153.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.82 (0.451.57)
00.351.4
Missense OE?0.98 (0.861.12)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 6 / 7.3Missense obs/exp: 150 / 153.0Syn Z: -0.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MRM2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →