RPS2 (ribosomal protein S2)
- symbol:
- RPS2
- locus group:
- protein-coding gene
- location:
- 16p13.3
- gene_family:
- S ribosomal proteins
- alias symbol:
- LLREP3|S2
- alias name:
- None
- entrez id:
- 6187
- ensembl gene id:
- ENSG00000140988
- ucsc gene id:
- uc002cno.3
- refseq accession:
- NM_002952
- hgnc_id:
- HGNC:10404
- approved reserved:
- 1998-07-29
RPS2（核糖体蛋白S2，ribosomal protein S2）是核糖体小亚基（40S）的组成蛋白之一，属于核糖体蛋白（RPs）家族。核糖体蛋白家族是一类高度保守的蛋白质，主要功能是参与核糖体的组装和维持其结构，从而在蛋白质翻译过程中发挥核心作用。RPS2作为核糖体的结构组分，直接参与mRNA的识别和翻译起始，确保蛋白质合成的准确性。其表达产物具有典型的核糖体蛋白特性，如碱性氨基酸富集、与rRNA结合的能力等。主要作用位点在细胞质，与其它核糖体蛋白和rRNA共同形成功能性核糖体。若RPS2发生突变，可能导致核糖体组装异常或功能缺陷，进而影响全局蛋白质合成，引发核糖体病（ribosomopathies），这类疾病常表现为发育异常、贫血或癌症倾向。例如，某些研究提示RPS2表达异常可能与骨髓增生异常综合征（MDS）或某些实体瘤相关。当RPS2过表达时，可能干扰核糖体平衡，触发p53依赖的细胞周期阻滞或凋亡（核糖体应激反应）；而低表达则会导致翻译效率下降，影响细胞增殖和分化。RPS2所属的核糖体蛋白家族（RPs）成员均具有保守的序列和相似功能，但不同成员可能通过核糖体外的“兼职功能”（moonlighting functions）参与DNA修复、信号传导等过程。目前该基因的中文译名“核糖体蛋白S2”已广泛使用，无需额外标注英文。
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
核糖体，催化蛋白质合成的细胞器，由一个小40S亚基和60S大亚基。一起这些亚基组成的4 RNA种类和大约80结构不同的蛋白质。该基因编码一种核糖体蛋白，它是40S亚基的一个组成部分。该蛋白属于S5P家族核糖体的蛋白质。它位于细胞质中。该基因股序列相似鼠标LLRep3。它是共转录的小核仁RNA基因U64，它位于其第三内含子。作为典型编码核糖体蛋白的基因，有该基因通过基因组分散的多个经处理的假基因。 [由RefSeq的，2008年7月提供]
基因本体信息
RPS2基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
RPS2基因的本体（GO）信息：
| 名称 |
|---|
| 3010 Ribosome [PATH:hsa03010] |
| 名称 |
|---|
| 3' -UTR-mediated translational regulation |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S |
| Cap-dependent Translation Initiation |
| Disease |
| Eukaryotic Translation Elongation |
| Eukaryotic Translation Initiation |
| Eukaryotic Translation Termination |
| Formation of a pool of free 40S subunits |
| Formation of the ternary complex, and subsequently, the 43S complex |
| Gene Expression |
| GTP hydrolysis and joining of the 60S ribosomal subunit |
| Infectious disease |
| Influenza Infection |
| Influenza Life Cycle |
| Influenza Viral RNA Transcription and Replication |
| L13a-mediated translational silencing of Ceruloplasmin expression |
| Metabolism of proteins |
| Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) |
| Nonsense-Mediated Decay (NMD) |
| Peptide chain elongation |
| Ribosomal scanning and start codon recognition |
| SRP-dependent cotranslational protein targeting to membrane |
| Translation |
| Translation initiation complex formation |
| Viral mRNA Translation |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Anoxia | 0.12 | 1 | 0 | CTD_human |
| Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
| Gonadal Dysgenesis, 45,X | 0.000542884 | 2 | 0 | BeFree |
| Turner Syndrome | 0.000542884 | 2 | 0 | BeFree |
| Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
| Prostatic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Inflammatory Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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