MRM2
rRNA methyltransferase 2, mitochondrial
Also known as: FJH1, FTSJ2, MRM2_HUMAN, RRMJ2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UI43
- Gene
- MRM2
- Ensembl
- ENSG00000122687
- Chromosome
- 7
- Canonical length
- 246 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
246 residues, UniProt reviewed canonical sequence.
>Q9UI43|MRM2
1 MAGYLKLVCV SFQRQGFHTV GSRCKNRTGA EHLWLTRHLR DPFVKAAKVE SYRCRSAFKL
61 LEVNERHQIL RPGLRVLDCG AAPGAWSQVA VQKVNAAGTD PSSPVGFVLG VDLLHIFPLE
121 GATFLCPADV TDPRTSQRIL EVLPGRRADV ILSDMAPNAT GFRDLDHDRL ISLCLTLLSV
181 TPDILQPGGT FLCKTWAGSQ SRRLQRRLTE EFQNVRIIKP EASRKESSEV YFLATQYHGR
241 KGTVKQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MRM2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 20 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 20 nTPM
- tonsil: 17 nTPM
- lymph node: 17 nTPM
- liver: 16 nTPM
- choroid plexus: 16 nTPM
- spleen: 15 nTPM
Single-cell type
- microglia: 12 nCPM
- papillary tip epithelial cells: 9.7 nCPM
- other brain neurons: 9 nCPM
- brain excitatory neurons: 8.2 nCPM
- loop of henle epithelial cells: 7.8 nCPM
- renal collecting duct principal cells: 7.5 nCPM
Immune cell
- myeloid DC: 72 nTPM
- intermediate monocyte: 57 nTPM
- memory B-cell: 52 nTPM
- classical monocyte: 49 nTPM
- non-classical monocyte: 49 nTPM
- naive B-cell: 49 nTPM
Brain region
- choroid plexus: 7.2 nTPM
- spinal cord: 6.8 nTPM
- white matter: 6.8 nTPM
- medulla oblongata: 6.5 nTPM
- cerebral cortex: 6.1 nTPM
- cerebellum: 5.7 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MRM2.
Disease | AllUniProt
Conditions MRM2 is implicated in, by any mechanism.
- Mitochondrial DNA depletion syndrome 17 (MTDPS17) MIM:618567
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 20 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Mitochondrial DNA depletion syndrome 17
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.57
- gnomAD pLI
- 0
- DepMap mean gene effect
- -0.32
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 16% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- mitochondrial large ribosomal subunit assembly
- RNA methylation
- rRNA 2'-O-methylation
- rRNA methylation
- rRNA processing
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MRM2 as an antibody target. Whether an autoantibody or antibody against MRM2 could matter depends on whether native MRM2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MRM2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MRM2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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