RPS6KA2 (ribosomal protein S6 kinase A2)
- symbol:
- RPS6KA2
- locus group:
- protein-coding gene
- location:
- 6q27
- gene_family:
- alias symbol:
- RSK3|HU-2
- alias name:
- None
- entrez id:
- 6196
- ensembl gene id:
- ENSG00000071242
- ucsc gene id:
- uc003qvb.2
- refseq accession:
- NM_021135
- hgnc_id:
- HGNC:10431
- approved reserved:
- 1994-07-11
RPS6KA2（Ribosomal Protein S6 Kinase A2，核糖体蛋白S6激酶A2）属于RSK（Ribosomal S6 Kinase，核糖体S6激酶）家族，该家族是一类丝氨酸/苏氨酸蛋白激酶，主要参与调控细胞生长、增殖、存活和代谢等过程。RPS6KA2通过磷酸化下游靶蛋白（如转录因子CREB和核糖体蛋白S6）传递信号，其活性受MAPK/ERK通路（促分裂原活化蛋白激酶/细胞外信号调节激酶通路）调控。该基因在神经系统、肌肉组织和免疫系统中高表达，对突触可塑性（神经元连接强度的调节能力）和记忆形成有重要作用。突变可能导致功能异常，例如错义突变（单个氨基酸改变）可能削弱激酶活性，与智力障碍、自闭症谱系障碍等神经发育疾病相关；而某些突变可能增强激酶活性，促进肿瘤发生。RPS6KA2过表达常见于乳腺癌、前列腺癌等恶性肿瘤，通过激活促生存信号加速癌细胞增殖；低表达则可能影响神经元功能，导致认知缺陷。RSK家族共性包括：依赖ERK激活、含有两个激酶结构域（N端负责自磷酸化，C端负责底物磷酸化），并能穿梭于细胞核与细胞质传递信号。该基因与疾病关联的研究仍在深入，例如在阿尔茨海默病中可能通过tau蛋白（一种与微管结合的神经蛋白）磷酸化参与病理过程。
This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
该基因编码对RSK（核糖体S6激酶）家族丝氨酸/苏氨酸激酶的成员。这种激酶包含2不相同激酶催化结构域和磷酸化多种底物，包括信号转导通路的促分裂原活化激酶（MAPK）的成员。此蛋白的活性已牵涉在控制细胞生长和分化。备用转录剪接变体，编码不同同种型，已经表征。 [由RefSeq的，2008年7月提供]
基因本体信息
RPS6KA2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
RPS6KA2基因的本体（GO）信息：
| 名称 |
|---|
| 4010 MAPK signaling pathway [PATH:hsa04010] |
| 4150 mTOR signaling pathway [PATH:hsa04150] |
| 4114 Oocyte meiosis [PATH:hsa04114] |
| 4914 Progesterone-mediated oocyte maturation [PATH:hsa04914] |
| 4720 Long-term potentiation [PATH:hsa04720] |
| 4722 Neurotrophin signaling pathway [PATH:hsa04722] |
| 名称 |
|---|
| Activated TLR4 signalling |
| Activation of NMDA receptor upon glutamate binding and postsynaptic events |
| Axon guidance |
| Cellular responses to stress |
| Cellular Senescence |
| CREB phosphorylation |
| CREB phosphorylation through the activation of Ras |
| Developmental Biology |
| ERK/MAPK targets |
| Gastrin-CREB signalling pathway via PKC and MAPK |
| Immune System |
| Innate Immune System |
| L1CAM interactions |
| MAP kinase activation in TLR cascade |
| MAPK targets/ Nuclear events mediated by MAP kinases |
| MyD88 cascade initiated on plasma membrane |
| MyD88 dependent cascade initiated on endosome |
| MyD88-independent TLR3/TLR4 cascade |
| MyD88:Mal cascade initiated on plasma membrane |
| Neuronal System |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell |
| NGF signalling via TRKA from the plasma membrane |
| Nuclear Events (kinase and transcription factor activation) |
| Post NMDA receptor activation events |
| Recycling pathway of L1 |
| RSK activation |
| Senescence-Associated Secretory Phenotype (SASP) |
| Signaling by GPCR |
| Signalling by NGF |
| Toll Like Receptor 10 (TLR10) Cascade |
| Toll Like Receptor 2 (TLR2) Cascade |
| Toll Like Receptor 3 (TLR3) Cascade |
| Toll Like Receptor 4 (TLR4) Cascade |
| Toll Like Receptor 5 (TLR5) Cascade |
| Toll Like Receptor 7/8 (TLR7/8) Cascade |
| Toll Like Receptor 9 (TLR9) Cascade |
| Toll Like Receptor TLR1:TLR2 Cascade |
| Toll Like Receptor TLR6:TLR2 Cascade |
| Toll-Like Receptors Cascades |
| TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation |
| TRAF6 Mediated Induction of proinflammatory cytokines |
| Transmission across Chemical Synapses |
| TRIF-mediated TLR3/TLR4 signaling |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Blood pressure finding | 0.12 | 1 | 1 | GWASCAT |
| Dental caries | 0.12 | 1 | 1 | GWASCAT |
| Systemic arterial pressure | 0.12 | 1 | 1 | GWASCAT |
| Sclerosis | 0.00272435 | 1 | 0 | LHGDN |
| Mammary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Rectal Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Colonic Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
联系方式
山东省济南市章丘区文博路2号 齐鲁师范学院 genelibs生信实验室
山东省济南市高新区舜华路750号大学科技园北区F座4单元2楼
电话： 0531-88819269
E-mail: product@genelibs.com
微信公众号
关注微信订阅号，实时查看信息，关注医学生物学动态。
版权所有 © 2025.Genelibs 济南弘晖生物技术有限公司 鲁ICP备13024435号-2
