S100B (S100 calcium binding protein B)
- symbol:
- S100B
- locus group:
- protein-coding gene
- location:
- 21q22.3
- gene_family:
- S100 calcium binding proteins|EF-hand domain containing
- alias symbol:
- S100beta
- alias name:
- None
- entrez id:
- 6285
- ensembl gene id:
- ENSG00000160307
- ucsc gene id:
- uc002zju.2
- refseq accession:
- NM_006272
- hgnc_id:
- HGNC:10500
- approved reserved:
- 1988-06-27
S100B是一种钙结合蛋白，属于S100基因家族（S100 family），该家族由21个成员组成，其共同特点是含有EF手型结构域（EF-hand domain，一种能结合钙离子的特定蛋白结构），并通过钙离子依赖的方式调节细胞功能。S100B主要由神经系统的星形胶质细胞（astrocytes）和少突胶质细胞（oligodendrocytes）分泌，在脑发育、细胞增殖、分化及炎症反应中起重要作用。其生物学功能包括调节细胞骨架动态、能量代谢和细胞凋亡，还能作为神经营养因子（neurotrophic factor）促进神经元存活。S100B的作用位点包括细胞内（如与p53、微管蛋白相互作用）和细胞外（通过RAGE受体激活信号通路）。突变或异常表达可能导致功能紊乱，例如S100B过表达与神经退行性疾病（如阿尔茨海默病、帕金森病）和神经损伤（如脑外伤、中风）相关，其高血清水平常作为脑损伤的生物标志物。此外，S100B在黑色素瘤中过表达可促进肿瘤转移。若S100B表达降低，可能影响神经修复能力或导致发育异常。S100B还参与胶质瘤（glioma）的进展，其过表达会激活NF-κB等促炎通路，加剧肿瘤恶性度。该蛋白具有浓度依赖性双效性：低浓度时促进神经生长，高浓度时则引发炎症甚至细胞死亡。基因家族成员（如S100A、S100P）多参与癌症、免疫调控等过程，共性为通过钙信号调节靶蛋白活性。
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 21q22.3. This protein may function in Neurite extension, proliferation of melanoma cells, stimulation of Ca2+ fluxes, inhibition of PKC-mediated phosphorylation, astrocytosis and axonal proliferation, and inhibition of microtubule assembly. Chromosomal rearrangements and altered expression of this gene have been implicated in several neurological, neoplastic, and other types of diseases, including Alzheimer's disease, Down's syndrome, epilepsy, amyotrophic lateral sclerosis, melanoma, and type I diabetes. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是S100家族含有2 EF手钙结合基序的蛋白质的成员。 S100蛋白是局部在广泛的细胞的细胞质和/或细胞核，并参与了许多细胞过程的调控，如细胞周期进程和分化。 S100基因包括至少13名成员分别位于作为染色体1q21集群;然而，该基因位于21q22.3。这种蛋白可以以轴突延伸，黑色素瘤细胞，钙离子通量的刺激，抑制蛋白激酶C介导的磷酸化，星形细胞和轴突增殖，微管组装的抑制增殖的作用。染色体重排和该基因的改变的表达有牵连几种神经学，肿瘤，和其他类型的疾病，包括阿尔茨海默氏病，唐氏综合征，癫痫症，肌萎缩性侧索硬化症，黑素瘤，和I型糖尿病。 [由RefSeq的，2008年7月提供]
基因本体信息
S100B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
S100B基因的本体（GO）信息：
| 名称 |
|---|
| Activated TLR4 signalling |
| Advanced glycosylation endproduct receptor signaling |
| Cytosolic sensors of pathogen-associated DNA |
| DEx/H-box helicases activate type I IFN and inflammatory cytokines production |
| Immune System |
| Innate Immune System |
| MyD88 cascade initiated on plasma membrane |
| MyD88 dependent cascade initiated on endosome |
| MyD88-independent TLR3/TLR4 cascade |
| MyD88:Mal cascade initiated on plasma membrane |
| Nuclear signaling by ERBB4 |
| RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways |
| RIP-mediated NFkB activation via ZBP1 |
| Signaling by ERBB4 |
| TAK1 activates NFkB by phosphorylation and activation of IKKs complex |
| 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 |
| TRAF6 mediated NF-kB activation |
| TRIF-mediated TLR3/TLR4 signaling |
| ZBP1(DAI) mediated induction of type I IFNs |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Bipolar Disorder | 0.203181358 | 5 | 0 | BeFree_CTD_human_GAD_RGD |
| Myocardial Infarction | 0.201357209 | 5 | 0 | BeFree_CTD_human_RGD |
| Hematoma | 0.2 | 2 | 0 | CTD_human_RGD |
| Brain Edema | 0.2 | 2 | 0 | CTD_human_RGD |
| Down Syndrome | 0.129248887 | 16 | 0 | BeFree_CTD_human_LHGDN |
| Cerebral Hemorrhage | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
| Attention Deficit and Disruptive Behavior Disorders | 0.12 | 1 | 0 | CTD_human |
| Vasospasm, Intracranial | 0.12 | 1 | 0 | CTD_human |
| Cerebrovascular accident | 0.083267234 | 4 | 0 | BeFree_LHGDN_RGD |
| Alzheimer's Disease | 0.083267234 | 4 | 0 | BeFree_LHGDN_RGD |
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