LCP2 (lymphocyte cytosolic protein 2)
- symbol:
- LCP2
- locus group:
- protein-coding gene
- location:
- 5q35.1
- gene_family:
- SH2 domain containing
- alias symbol:
- SLP-76
- alias name:
- 76 kDa tyrosine phosphoprotein|SH2…
- entrez id:
- 3937
- ensembl gene id:
- ENSG00000043462
- ucsc gene id:
- uc003man.2
- refseq accession:
- NM_005565
- hgnc_id:
- HGNC:6529
- approved reserved:
- 1996-03-12
LCP2（淋巴细胞胞浆蛋白2）基因编码一种称为SLP-76的衔接蛋白，主要在造血细胞（如T细胞、B细胞、巨噬细胞和肥大细胞）中表达，是免疫信号传导的关键分子。SLP-76通过其多个结构域（如SH2结构域、酪氨酸磷酸化位点和脯氨酸富集区）与下游信号分子（如PLCγ、Vav和Gads）相互作用，参与T细胞受体（TCR）和B细胞受体（BCR）的信号转导，调控免疫细胞的活化、增殖和分化。LCP2基因突变可能导致免疫缺陷或异常免疫反应，例如某些突变与严重联合免疫缺陷病（SCID）或自身免疫疾病相关。若LCP2过表达，可能增强免疫细胞活化，导致过度炎症或自身免疫反应；而降低表达则可能削弱免疫应答，增加感染风险。LCP2属于SLP家族（SLP-76家族），该家族成员通常含有SH2结构域和多个酪氨酸磷酸化位点，介导免疫受体下游信号传导。此外，LCP2还参与血小板活化、血管生成和肿瘤微环境调控，其异常表达可能与某些癌症（如淋巴瘤）的发展有关。研究LCP2有助于理解免疫调节机制并为相关疾病治疗提供靶点。
SLP-76 was originally identified as a substrate of the ZAP-70 protein tyrosine kinase following T cell receptor (TCR) ligation in the leukemic T cell line Jurkat. The SLP-76 locus has been localized to human chromosome 5q33 and the gene structure has been partially characterized in mice. The human and murine cDNAs both encode 533 amino acid proteins that are 72% identical and comprised of three modular domains. The NH2-terminus contains an acidic region that includes a PEST domain and several tyrosine residues which are phosphorylated following TCR ligation. SLP-76 also contains a central proline-rich domain and a COOH-terminal SH2 domain. A number of additional proteins have been identified that associate with SLP-76 both constitutively and inducibly following receptor ligation, supporting the notion that SLP-76 functions as an adaptor or scaffold protein. Studies using SLP-76 deficient T cell lines or mice have provided strong evidence that SLP-76 plays a positive role in promoting T cell development and activation as well as mast cell and platelet function. [provided by RefSeq, Jul 2008]
SLP-76最初被鉴定为下面的T细胞受体（TCR）在白血病T细胞系Jurkat结扎的ZAP-70蛋白酪氨酸激酶的底物。的SLP-76基因座已被定位于人染色体5q33和基因结构已经部分特征的小鼠。人和鼠的cDNA都编码533氨基酸蛋白质72％相同，并包括三个模块结构域的。 NH 2 - 末端包含包括PEST域和它们磷酸以下TCR结扎几个酪氨酸残基的酸性区域。 SLP-76还包含一个中央富含脯氨酸的结构域和COOH-末端SH2结构域。许多额外的蛋白质已经确定了联想与SLP-76两种组成和可诱导以下受体结扎，支持的概念，SLP-76功能如同一个适配器或支架蛋白。已经使用SLP-76缺陷型T细胞系或小鼠中的研究提供了有力的证据表明，SLP-76在促进T细胞发育和活化以及肥大细胞和血小板功能的积极作用。 [由RefSeq的，2008年7月提供]
基因本体信息
LCP2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
LCP2基因的本体（GO）信息：
| 名称 |
|---|
| 4015 Rap1 signaling pathway [PATH:hsa04015] |
| 4611 Platelet activation [PATH:hsa04611] |
| 4650 Natural killer cell mediated cytotoxicity [PATH:hsa04650] |
| 4660 T cell receptor signaling pathway [PATH:hsa04660] |
| 4664 Fc epsilon RI signaling pathway [PATH:hsa04664] |
| 4380 Osteoclast differentiation [PATH:hsa04380] |
| 名称 |
|---|
| Adaptive Immune System |
| DAP12 interactions |
| DAP12 signaling |
| Fc epsilon receptor (FCERI) signaling |
| FCERI mediated Ca+2 mobilization |
| FCERI mediated MAPK activation |
| Generation of second messenger molecules |
| GPVI-mediated activation cascade |
| Hemostasis |
| Immune System |
| Innate Immune System |
| Platelet activation, signaling and aggregation |
| TCR signaling |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Lymphedema | 0.002367032 | 1 | 0 | GAD |
| Ischemia | 0.000271442 | 1 | 0 | BeFree |
| Renal ischaemia | 0.000271442 | 1 | 0 | BeFree |
| Congenital vascular anomaly | 0.000271442 | 1 | 0 | BeFree |
| Precursor B-cell lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Kidney Failure, Acute | 0.000271442 | 1 | 0 | BeFree |
| Vascular anomaly | 0.000271442 | 1 | 0 | BeFree |
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