GeneID: 267
Names
Common Name: | MRM2 | Type: | Gene |
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Chromosome: | 7 (NC_000007.14) | Locus: | NM_013393.3 (MRM2) |
HUGO Symbol: | MRM2 | Full Name: | mitochondrial rRNA methyltransferase 2 |
Exons: | 3 | Introns: | 2 |
Description:
MRM2 encodes a nucleolar protein containing a methyltransferase domain. It belongs to S-adenosyl-L-methionine-dependent 2'-O-methyltransferases with a role in the processing and modification of rRNA, a crucial component of ribosome structure and function. MRM2 is suggested to be involved in cell cycle control and DNA repair. It is an ortholog of E.coli RrmJ, a methyltransferase that functions as a heat shock protein. Methylation is important in the regulation of cellular response to stress-stimuli, including drugs. Studies have reported methyltransferase-mediated chromatin structures that modulate azacitidine response/resistance in leukemia cells. Azacitidine is a DNA hypomethylating agent of clinical importance for the treatment of thalassaemia and sickle cell disease (SCD) via induction of Hb F production. A variation in MRM2 was associated with Hb F response to hydroxyurea in SCD cohorts.
Synonyms: FJH1 , FTSJ2 , RRMJ2
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Ching YP, Zhou HJ, Yuan JG, Qiang BQ, Kung Hf HF, Jin DY, Identification and characterization of FTSJ2, a novel human nucleolar protein homologous to bacterial ribosomal RNA methyltransferase., Genomics, 79(1), 2-6, 2002
- Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014
- Rorbach J, Boesch P, Gammage PA, Nicholls TJ, Pearce SF, Patel D, Hauser A, Perocchi F, Minczuk M, MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome., Mol. Biol. Cell, 25(17), 2542-55, 2014
- Ng NY, Ko CH, Natural Remedies for the Treatment of Beta-Thalassemia and Sickle Cell Anemia-Current Status and Perspectives in Fetal Hemoglobin Reactivation., Int Sch Res Notices, 2014(0), 123257, 2014
- Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M, Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome., Hum. Mol. Genet., 26(21), 4257-4266, 2017
- Cheng JX, Chen L, Li Y, Cloe A, Yue M, Wei J, Watanabe KA, Shammo JM, Anastasi J, Shen QJ, Larson RA, He C, Le Beau MM, Vardiman JW, RNA cytosine methylation and methyltransferases mediate chromatin organization and 5-azacytidine response and resistance in leukaemia., Nat Commun, 9(1), 1163, 2018
A/A | Date | Curator(s) | Comments |
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1 | 2019-09-24 10:45:42 | The IthaGenes Curation Team | Created |