1. Gene
  2. MRPS2 - mitochondrial ribosomal protein S2 Gene

MRPS2 - mitochondrial ribosomal protein S2 Gene

中文名称:线粒体核糖体蛋白 S2

种属: Homo sapiens

同用名: S2mt; CGI-91; MRP-S2; COXPD36

基因 ID: 51116 | 基因类型: protein coding

关于 MRPS2

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:135,499,965-135,504,673 (from NCBI)

This gene has 8 transcripts (splice variants), 204 orthologues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 13.4), ovary (RPKM 10.7) and 25 other tissues.

功能概要

哺乳动物线粒体核糖体蛋白由核基因编码,有助于线粒体内的蛋白质合成。线粒体核糖体 (线粒体核糖体) 由一个小的 28S 亚基和一个大的 39S 亚基组成。与原核核糖体相比,它们估计有 75% 的蛋白质与 rRNA 组成,而原核核糖体的比例是相反的。哺乳动物 线粒体核糖体 和原核核糖体之间的另一个区别是后者包含 5S rRNA。在不同的物种中,构成核糖体的蛋白质在序列上有很大差异,有时在生化特性上也有很大差异,这使得序列同源性难以识别。该基因编码属于核糖体蛋白 S2 家族的 28S 亚基蛋白。已观察到该基因的可变剪接转录物变体。[RefSeq 提供,2012 年 5 月]

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]

MRPS2 基因产物(2)

mRNA Protein Name
NM_001371401.1 NP_001358330.1 28S ribosomal protein S2, mitochondrial
NM_016034.5 NP_057118.1 28S ribosomal protein S2, mitochondrial
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial ribosome assembly IMP
IMP: 通过突变表型推断
29576219 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of mitochondrial small ribosomal subunit IDA
IDA: 通过直接分析推断
25838379 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

MRPS2 蛋白结构

Ribosomal_S2

Ribosomal_S2: Ribosomal protein S2 (84 - 180)

Ribosomal_S2

Ribosomal_S2: Ribosomal protein S2 (185 - 260)

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

28S ribosomal protein S2, mitochondrial

mitochondrial small ribosomal subunit protein uS2m

关联疾病

疾病名称 别名
Combined Oxidative Phosphorylation Deficiency 36

COXPD36

Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 2

SRTD2

Atd2

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Jeune Syndrome 2

Hypoglycemia

Hypoglycaemia

Low Blood Sugar

Hypoglycaemia Nos

Spontaneous Hypoglycaemia

Nondiabetic Hypoglycaemia

Hypoglycaemic Disorder Nos

Hypoglycaemic Syndrome

Combined Oxidative Phosphorylation Deficiency
Combined Oxidative Phosphorylation Deficiency 9

COXPD9

Combined Oxidative Phosphorylation Defect Type 9

Combined Oxidative Phosphorylation Deficiency, Type 9

Brain Glioblastoma Multiforme

Brain Glioblastoma

Glioblastoma Multiforme Of Brain

Glioblastoma Nos

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
Bos taurus MRPS2 VGNC VGNC:31660
Macaca mulatta MRPS2 VGNC VGNC:74761
Mus musculus MRPS2 MGD MGI:2153089
Canis familiaris MRPS2 VGNC VGNC:54332
Felis catus MRPS2 VGNC VGNC:63617
Rattus norvegicus MRPS2 RGD RGD:1309116