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

Gene ID: 29960, updated on 22-Jan-2020

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
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

Genomic context

See MRM2 in Genome Data Viewer
Location:
7p22.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (2234195..2242205, complement)
105 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 uncharacterized LOC105375126 Neighboring gene Sharpr-MPRA regulatory region 7916 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: CN262227 OMIM: 618567 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686J14194

Gene Ontology Provided by GOA

Function Evidence Code Pubs
rRNA (uridine-2'-O-)-methyltransferase activity EXP
Inferred from Experiment
more info
PubMed 
rRNA (uridine-2'-O-)-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
rRNA (uridine-2'-O-)-methyltransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
rRNA 2'-O-methylation TAS
Traceable Author Statement
more info
 
rRNA methylation NAS
Non-traceable Author Statement
more info
PubMed 
rRNA processing NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
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)

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
    Q9UI43
    UniProtKB/TrEMBL
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    2234195..2242205 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.
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