U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 29960, updated on 7-Sep-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MRM2 in Genome Data Viewer
    Location:
    7p22.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (2234195..2242205, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (2347636..2355623, complement)
    105.20220307 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 H3K4me1 hESC enhancer GRCh37_chr7:2179597-2180202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2197373-2198322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2198323-2199271 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 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 nudix hydrolase 1 Neighboring gene microRNA 6836 Neighboring gene sorting nexin 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp686J14194

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in RNA methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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

    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)

    NEW Try the new Transcript table

    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_013393.3NP_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:33241
      RlmE; 23S rRNA U2552 (ribose-2'-O)-methylase RlmE/FtsJ [Translation, ribosomal structure and biogenesis]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

    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.