MRM2 - mitochondrial rRNA methyltransferase 2 Gene

Also Known as FJH1; FTSJ2; HEL97; RRMJ2; MTDPS17

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 29960

About MRM2

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:2,234,195-2,242,205 (from NCBI)

This gene has 5 transcripts (splice variants), 199 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 11.5), appendix (RPKM 10.1) and 25 other tissues.

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]

MRM2 Products (1)

mRNA Protein Name
NM_013393.3 NP_037525.1 rRNA methyltransferase 2, mitochondrial
Molecular Function GO Annotation Evidence References Source
enables rRNA (uridine-2'-O-)-methyltransferase activity EXP
EXP: Inferred from Experiment
25074936 GOA
enables rRNA (uridine-2'-O-)-methyltransferase activity IMP
IMP: Inferred from mutant phenotype
35177605 GOA
Biological Process GO Annotation Evidence References Source
involved in mitochondrial large ribosomal subunit assembly IMP
IMP: Inferred from mutant phenotype
35177605 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleolus IDA
IDA: Inferred from direct assay
11827451 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MRM2 Protein Structure

FtsJ

FtsJ: FtsJ-like methyltransferase (52 - 236)

  • 0
  • 100
  • 200
  • 246 a.a.
Protein Preferred Names Protein Names

rRNA methyltransferase 2, mitochondrial

  • 16S rRNA (uridine(1369)-2'-O)-methyltransferase

Related Diseases

Diseases Alias
Mitochondrial Dna Depletion Syndrome 17
  • MTDPS17

Mitochondrial Dna Depletion Syndrome
  • Mtdna Depletion Syndrome

3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
  • MCC1D

  • Mccd Type 1

  • Mcc1 Deficiency

  • Methylcrotonylglycinuria Type I

  • 3-Methylcrotonylglycinuria I

  • 3-Methylcrotonoyl-Coa Carboxylase 1 Deficiency

  • 3-Methylcrotonylglycinuria Type I

  • Mcgi

  • 3 Methylcrotonyl-Coa Carboxylase 1 Deficiency

  • 3-Methylcrotonyl Coa Carboxylase 1 Deficiency

Lactic Acidosis
  • Acidosis, Lactic

  • Acidosis Lactic

Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
  • Peripheral Neuropathy And Optic Atrophy

  • Cmt6

  • Charcot-Marie-Tooth Disease Type 6

  • Hmsn Vi

  • HMSN6A

  • Hmsn Via

  • Hmsn6

  • Cmt6a

  • Charcot-Marie-Tooth Disease, Type 6

  • Hereditary Motor And Sensory Neuropathy Type 6

  • Hereditary Motor And Sensory Neuropathy Type Vi

  • Neuropathy, Hereditary Motor And Sensory, Type 6a

  • Neuropathy, Hereditary Motor And Sensory, Type Vi

  • Charcot-Marie-Tooth Disease, Type 6a

  • Hereditary Motor And Sensory Neuropathy Via

  • Hmsn 6

  • Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy

  • Charcot-Marie-Tooth Disease 6

  • Charcot-Marie-Tooth Disease 6a

  • Hereditary Motor And Sensory Neuropathy Type Via

  • Hereditary Motor And Sensory Neuropathy Vi

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
  • Melas Syndrome

  • MELAS

  • Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

  • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

  • Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

  • Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Non-Syndromic X-Linked Intellectual Disability
  • X-Linked Non-Syndromic Intellectual Disability

  • Non-Specific X-Linked Mental Retardation

  • X-Linked Non-Specific Intellectual Disability

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris MRM2 VGNC VGNC:43367
Macaca mulatta MRM2 VGNC VGNC:74775
Rattus norvegicus MRM2 RGD RGD:1305944
Bos taurus MRM2 VGNC VGNC:31606
Mus musculus MRM2 MGD MGI:1915267
Felis catus MRM2 VGNC VGNC:80594
Others MRM2 NCBI