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

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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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).
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.

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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 EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-32279 (e-PCR)
- UniSTS:73234

NoName (e-PCR)
- UniSTS:486637

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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA processing	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial matrix	IMP Inferred from Mutant Phenotype more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	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

EC 2.1.1.-

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)

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

2234195..2242205 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

2347636..2355623 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_177442.1: Suppressed sequence

Description

NM_177442.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.