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MRM2 mitochondrial rRNA methyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 29960, updated on 2-Nov-2024

Summary

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Official Symbol
MRM2provided by HGNC
Official Full Name
mitochondrial rRNA methyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:16352
See related
Ensembl:ENSG00000122687 MIM:606906; AllianceGenome:HGNC:16352
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FJH1; FTSJ2; HEL97; RRMJ2; MTDPS17
Summary
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]
Expression
Ubiquitous expression in lymph node (RPKM 11.5), appendix (RPKM 10.1) and 25 other tissues See more
Orthologs
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Genomic context

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See MRM2 in Genome Data Viewer
Location:
7p22.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (2234195..2242205, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (2347636..2355623, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2273830..2281840, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene mitotic arrest deficient 1 like 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:2149574-2150773 Neighboring gene uncharacterized LOC105375127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2163326-2163826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2167782-2168380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2168381-2168978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2168979-2169576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2179597-2180202 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2187008-2187194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2197373-2198322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2198323-2199271 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2205752-2205962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2207917-2208590 Neighboring gene Sharpr-MPRA regulatory region 12216 Neighboring gene uncharacterized LOC105375126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2242330-2243304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2248383-2248916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17863 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2272476-2272854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2273433-2273965 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:2276450-2277649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2280373-2281224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25515 Neighboring gene nudix hydrolase 1 Neighboring gene microRNA 6836 Neighboring gene sorting nexin 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity. Shafique A, et al. J Med Genet, 2023 Apr. PMID 36002240
  2. FTSJ2, a heat shock-inducible mitochondrial protein, suppresses cell invasion and migration. Lai CW, et al. PLoS One, 2014. PMID 24595062, Free PMC Article
  3. Identification and characterization of FTSJ2, a novel human nucleolar protein homologous to bacterial ribosomal RNA methyltransferase. Ching YP, et al. Genomics, 2002 Jan. PMID 11827451
  4. MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome. Rorbach J, et al. Mol Biol Cell, 2014 Sep 1. PMID 25009282, Free PMC Article
  5. MiR-542-3p exerts tumor suppressive functions in non-small cell lung cancer cells by upregulating FTSJ2. Liu B, et al. Life Sci, 2017 Nov 1. PMID 28866101

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.
    Title: MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.
  2. Targeted exome sequencing of genes encoding the mitochondrial proteome identified a damaging mutation, c.567 G > A, affecting a highly conserved amino acid residue (p.Gly189Arg) of the MRM2 protein. Our findings establish that defective MRM2 causes a MELAS-like phenotype, and suggests the genetic screening of the MRM2 gene in patients with a m.3243 A > G negative MELAS-like presentation.
    Title: Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
  3. miR-542-3p functions as a suppressor gene by targeting and upregulating FTSJ2, thus inhibiting the malignancy of non-small cell lung cancer cells
    Title: MiR-542-3p exerts tumor suppressive functions in non-small cell lung cancer cells by upregulating FTSJ2.
  4. MRM2 and MRM3 are human mitochondrial methyltransferases involved in the modification of 16S rRNA and are important factors for the biogenesis and function of the large subunit of the mitochondrial ribosome.
    Title: MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome.
  5. Data show that 2'-O-methyltransferases MRM1, MRM2, and RNMTL1 are responsible for modification of large subunit rRNA at residues G1145, U1369, and G1370, respectively.
    Title: Assignment of 2'-O-methyltransferases to modification sites on the mammalian mitochondrial large subunit 16 S ribosomal RNA (rRNA).
  6. FTSJ2 possesses suppressive effects on the invasion and migration of cancer cells.
    Title: FTSJ2, a heat shock-inducible mitochondrial protein, suppresses cell invasion and migration.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  8. FTSJ2 is a nucleolar RNA methyltransferase involved in eukaryotic RNA processing and modification.
    Title: Identification and characterization of FTSJ2, a novel human nucleolar protein homologous to bacterial ribosomal RNA methyltransferase.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Mitochondrial DNA depletion syndrome 17
MedGen: C5231412 OMIM: 618567 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
EBI GWAS Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686J14194

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables rRNA (uridine-2'-O-)-methyltransferase activity EXP
Inferred from Experiment
more info
 PubMed 
enables rRNA (uridine-2'-O-)-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables rRNA (uridine-2'-O-)-methyltransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables rRNA (uridine-2'-O-)-methyltransferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in RNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial large ribosomal subunit assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in rRNA 2'-O-methylation TAS
Traceable Author Statement
more info
  
involved_in rRNA methylation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in rRNA processing NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
rRNA methyltransferase 2, mitochondrial
Names
16S rRNA (uridine(1369)-2'-O)-methyltransferase
16S rRNA [Um1369] 2'-O-methyltransferase
FtsJ RNA methyltransferase homolog 2
FtsJ homolog 2
MRM2 RNA methyltransferase homolog
cell division protein FtsJ
epididymis luminal protein 97
protein ftsJ homolog 2
putative ribosomal RNA methyltransferase 2
rRNA (uridine-2'-O-)-methyltransferase
NP_037525.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_013393.3 → NP_037525.1  rRNA methyltransferase 2, mitochondrial

    See identical proteins and their annotated locations for NP_037525.1

    Status: REVIEWED

    Source sequence(s)
    AC004971, AC005282, AF093415
    Consensus CDS
    CCDS5328.1
    UniProtKB/Swiss-Prot
    Q24JR8, Q9UI43
    UniProtKB/TrEMBL
    Q1WWK4, V9HWJ9
    Related
    ENSP00000242257.8, ENST00000242257.14
    Conserved Domains (1) summary
    COG0293
    Location:33 → 241
    RlmE; 23S rRNA U2552 (ribose-2'-O)-methylase RlmE/FtsJ [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    2234195..2242205 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    2347636..2355623 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_177442.1: Suppressed sequence

    Description
    NM_177442.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UI43.1 GenPept UniProtKB/Swiss-Prot:Q9UI43

Gene LinkOut

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