1. Gene
  2. MRM2 - mitochondrial rRNA methyltransferase 2 Gene

MRM2 - mitochondrial rRNA methyltransferase 2 Gene

中文名称:线粒体 rRNA 甲基转移酶 2

种属: Homo sapiens

同用名: FJH1; FTSJ2; HEL97; RRMJ2; MTDPS17

基因 ID: 29960 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是 S-腺苷甲硫氨酸结合蛋白家族的成员。它是一种核仁蛋白,可能参与 rRNA 的加工和修饰。该基因被认为参与细胞周期控制和 DNA 修复。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_013393.3 NP_037525.1 rRNA methyltransferase 2, mitochondrial
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables rRNA (uridine-2'-O-)-methyltransferase activity EXP
EXP: 通过实验结果推断
25074936 GOA
enables rRNA (uridine-2'-O-)-methyltransferase activity IMP
IMP: 通过突变表型推断
35177605 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial large ribosomal subunit assembly IMP
IMP: 通过突变表型推断
35177605 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleolus IDA
IDA: 通过直接分析推断
11827451 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MRM2 蛋白结构

FtsJ

FtsJ: FtsJ-like methyltransferase (52 - 236)

  • 0
  • 100
  • 200
  • 246 a.a.
蛋白主名 其他名称

rRNA methyltransferase 2, mitochondrial

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

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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