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] See more...

Aliases for MRM2 Gene

Aliases for MRM2 Gene

  • Mitochondrial RRNA Methyltransferase 2 2 3 5
  • 16S RRNA (Uridine(1369)-2'-O)-Methyltransferase 3 4
  • 16S RRNA [Um1369] 2'-O-Methyltransferase 3 4
  • RRNA Methyltransferase 2, Mitochondrial 3 4
  • RRNA (Uridine-2'-O-)-Methyltransferase 2 3
  • Protein FtsJ Homolog 2 3 4
  • FTSJ2 3 4
  • FJH1 3 4
  • MRM2 RNA Methyltransferase Homolog (S. Cerevisiae) 2
  • FtsJ RNA Methyltransferase Homolog 2 (E. Coli) 2
  • Putative Ribosomal RNA Methyltransferase 2 3
  • FtsJ RNA Methyltransferase Homolog 2 3
  • MRM2 RNA Methyltransferase Homolog 3
  • Epididymis Luminal Protein 97 3
  • Cell Division Protein FtsJ 3
  • FtsJ Homolog 2 3
  • EC 2.1.1.- 4
  • MTDPS17 3
  • HEL97 3
  • RRMJ2 3

External Ids for MRM2 Gene

Previous HGNC Symbols for MRM2 Gene

  • FTSJ2

Summaries for MRM2 Gene

Entrez Gene Summary for MRM2 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]

GeneCards Summary for MRM2 Gene

MRM2 (Mitochondrial RRNA Methyltransferase 2) is a Protein Coding gene. Diseases associated with MRM2 include Mitochondrial Dna Depletion Syndrome 17 and Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy. Among its related pathways are rRNA processing in the mitochondrion and Gene Expression. An important paralog of this gene is ENSG00000286192.

UniProtKB/Swiss-Prot Summary for MRM2 Gene

  • S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA.

Additional gene information for MRM2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRM2 Gene

Genomics for MRM2 Gene

GeneHancer (GH) Regulatory Elements for MRM2 Gene

Promoters and enhancers for MRM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J002241 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 512.7 +0.1 104 3 ZBTB40 ZNF217 SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 PHF8 ZFX MRM2 ENSG00000286192 NUDT1 piR-32451 EIF3B BRAT1 SNX8 MAD1L1
GH07J002231 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas 14 +8.9 8905 4.2 HNRNPK ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G PHF8 ZNF639 MAD1L1 NUDT1 MRM2 ENSG00000286192
GH07J002298 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE 20.7 -58.0 -58014 3.8 SIN3A SP1 TEAD4 EP300 RFX1 RELA MEF2C RCOR1 TRIM22 POLR2A RF00017-5968 piR-36393-468 piR-50308-569 MRM2 SNX8 NUDT1 MAD1L1 LFNG
GH07J002093 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 19.5 +144.7 144664 8.9 CTCF ZIC2 ZNF623 REST RAD21 BCL11A MBD2 TCF12 GABPA SMC3 MRM2 MAD1L1 NUDT1 IQCE piR-38756-018 piR-36366-017 lnc-MRM2-2 ENSG00000286192
GH07J002309 Promoter/Enhancer 1.9 EPDnew FANTOM5 ENCODE CraniofacialAtlas 12.4 -70.1 -70074 5.7 ZBTB40 ZNF217 NRF1 POLR2G USF1 SP1 BCLAF1 PHF8 JUND TEAD4 SNX8 MRM2 NUDT1 MAD1L1 piR-35674-462 RF00017-5969
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRM2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRM2

Genomic Locations for MRM2 Gene

Genomic Locations for MRM2 Gene
chr7:2,234,222-2,242,205
(GRCh38/hg38)
Size:
7,984 bases
Orientation:
Minus strand
chr7:2,273,866-2,281,840
(GRCh37/hg19)
Size:
7,975 bases
Orientation:
Minus strand

Genomic View for MRM2 Gene

Genes around MRM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRM2 Gene

Proteins for MRM2 Gene

  • Protein details for MRM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UI43-MRM2_HUMAN
    Recommended name:
    rRNA methyltransferase 2, mitochondrial
    Protein Accession:
    Q9UI43
    Secondary Accessions:
    • Q24JR8

    Protein attributes for MRM2 Gene

    Size:
    246 amino acids
    Molecular mass:
    27424 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MRM2 Gene

neXtProt entry for MRM2 Gene

Post-translational modifications for MRM2 Gene

  • Ubiquitination at Lys45, Lys48, and Lys225
  • Modification sites at PhosphoSitePlus

Other Protein References for MRM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRM2 Gene

Domains & Families for MRM2 Gene

Gene Families for MRM2 Gene

Protein Domains for MRM2 Gene

Blocks:
  • Cell division protein FtsJ
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRM2 Gene

GenScript: Design optimal peptide antigens:
  • FTSJ2 protein (Q1WWK4_HUMAN)
  • rRNA (uridine-2'-O-)-methyltransferase (RRMJ2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UI43

UniProtKB/Swiss-Prot:

MRM2_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family.
genes like me logo Genes that share domains with MRM2: view

Function for MRM2 Gene

Molecular function for MRM2 Gene

UniProtKB/Swiss-Prot Function:
S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-adenosyl-L-methionine + uridine(1369) in 16S rRNA = 2'-O-methyluridine(1369) in 16S rRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:47764, Rhea:RHEA-COMP:11903, Rhea:RHEA-COMP:11904, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:65315, ChEBI:CHEBI:74478; Evidence=. ;.

Enzyme Numbers (IUBMB) for MRM2 Gene

Phenotypes From GWAS Catalog for MRM2 Gene

Gene Ontology (GO) - Molecular Function for MRM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
GO:0008650 rRNA (uridine-2'-O-)-methyltransferase activity NAS,EXP 11827451
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with MRM2: view
genes like me logo Genes that share phenotypes with MRM2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MRM2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRM2 Gene

Localization for MRM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRM2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRM2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MRM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA 11827451
GO:0005739 mitochondrion ISS --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MRM2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRM2 Gene

Pathways & Interactions for MRM2 Gene

genes like me logo Genes that share pathways with MRM2: view

Pathways by source for MRM2 Gene

Gene Ontology (GO) - Biological Process for MRM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000451 rRNA 2'-O-methylation TAS --
GO:0001510 RNA methylation IEA --
GO:0006364 rRNA processing NAS 11827451
GO:0031167 rRNA methylation NAS 11827451
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with MRM2: view

No data available for SIGNOR curated interactions for MRM2 Gene

Drugs & Compounds for MRM2 Gene

(1) Drugs for MRM2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for MRM2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with MRM2: view

Transcripts for MRM2 Gene

mRNA/cDNA for MRM2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRM2 Gene

No ASD Table

Relevant External Links for MRM2 Gene

GeneLoc Exon Structure for
MRM2

Expression for MRM2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRM2

mRNA Expression by UniProt/SwissProt for MRM2 Gene:

Q9UI43-MRM2_HUMAN
Tissue specificity: Widely expressed, with highest expression in muscle, placenta, and heart.

Evidence on tissue expression from TISSUES for MRM2 Gene

  • Nervous system(3.2)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRM2 Gene

Orthologs for MRM2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MRM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FTSJ2 31 30
  • 99.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FTSJ2 31 30
  • 84.99 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FTSJ2 31 30
  • 81.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ftsj2 31 30
  • 80.11 (n)
OneToOne
Mrm2 17
rat
(Rattus norvegicus)
Mammalia Ftsj2 30
  • 79.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FTSJ2 31
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves FTSJ2 31 30
  • 63.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FTSJ2 31
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ftsj2 30
  • 61.99 (n)
Str.10962 30
zebrafish
(Danio rerio)
Actinopterygii LOC555586 30
  • 60.49 (n)
FTSJ2 31
  • 47 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9100 30
fruit fly
(Drosophila melanogaster)
Insecta CG11447 31 30
  • 50.39 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004177 30
  • 49.4 (n)
worm
(Caenorhabditis elegans)
Secernentea F45G2.9 31 30
  • 49.35 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01980g 30
  • 50.51 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL117C 30
  • 49.48 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRM2 31 30
  • 46.73 (n)
OneToOne
Species where no ortholog for MRM2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MRM2 Gene

ENSEMBL:
Gene Tree for MRM2 (if available)
TreeFam:
Gene Tree for MRM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRM2: view image

Paralogs for MRM2 Gene

Paralogs for MRM2 Gene

genes like me logo Genes that share paralogs with MRM2: view

Variants for MRM2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRM2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
689394 Pathogenic: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 2,235,298(-) C/T MISSENSE_VARIANT
776192 Benign: not provided 2,239,684(-) G/A MISSENSE_VARIANT
787048 Benign: not provided 2,235,542(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MRM2 Gene

Structural Variations from Database of Genomic Variants (DGV) for MRM2 Gene

Variant ID Type Subtype PubMed ID
esv2761136 CNV gain 21179565
nsv1017814 CNV gain 25217958
nsv1018563 CNV gain 25217958
nsv1021173 CNV loss 25217958
nsv1021310 CNV loss 25217958
nsv830885 CNV loss 17160897
nsv830886 CNV loss 17160897

Variation tolerance for MRM2 Gene

Residual Variation Intolerance Score: 72.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRM2 Gene

Human Gene Mutation Database (HGMD)
MRM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRM2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRM2 Gene

Disorders for MRM2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MRM2 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Additional Disease Information for MRM2

genes like me logo Genes that share disorders with MRM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRM2 Gene

Publications for MRM2 Gene

  1. Identification and characterization of FTSJ2, a novel human nucleolar protein homologous to bacterial ribosomal RNA methyltransferase. (PMID: 11827451) Ching YP … Jin DY (Genomics 2002) 2 3 4 23 54
  2. MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome. (PMID: 25009282) Rorbach J … Minczuk M (Molecular biology of the cell 2014) 2 3 4 54
  3. Assignment of 2'-O-methyltransferases to modification sites on the mammalian mitochondrial large subunit 16 S ribosomal RNA (rRNA). (PMID: 25074936) Lee KW … Bogenhagen DF (The Journal of biological chemistry 2014) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for MRM2 Gene

Sources for MRM2 Gene