CD3G(也称为CD3γ)是T细胞受体(TCR)复合物的关键组成部分,属于CD3基因家族(包括CD3D、CD3E、CD3G和CD3Z)。该家族编码的蛋白共同形成TCR-CD3复合物,负责将TCR与抗原结合的信号传递到T细胞内,激活免疫反应。CD3G在T细胞发育和功能中起核心作用,其表达产物CD3γ是一种跨膜蛋白,与CD3ε形成异源二聚体,通过免疫受体酪氨酸激活基序(ITAM,一种信号传导结构域)触发下游信号通路。CD3G主要表达于T细胞表面,是T细胞识别抗原并启动免疫应答的必要分子。若CD3G发生突变(如错义突变或缺失),可能导致T细胞信号传导障碍,引发严重联合免疫缺陷(SCID)或自身免疫性疾病。例如,某些CD3G突变会减少TCR表达或削弱信号传导,导致免疫缺陷;而另一些突变可能过度激活T细胞,引发自身免疫问题。CD3G过表达可能增强T细胞活性,但可能增加自身免疫风险;而表达降低会导致T细胞功能不全,易发生感染。CD3基因家族的共性在于均编码TCR-CD3复合物的组分,通过ITAM传递信号,且均为T细胞特异性表达。研究还发现CD3G与某些淋巴瘤或T细胞白血病的异常信号传导相关,但其机制仍需进一步探索。
The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白是CD3-γ多肽,它与CD3-ε,-delta和-zeta和T细胞受体α/β和γ/三角洲异在一起,形成T细胞受体CD3复合。这种复杂起着抗原识别耦合到几个细胞内信号转导途径中起重要作用。编码的ε,γ和δ的多肽的基因位于11号染色体的缺陷在该基因与T细胞免疫缺陷相关联的相同簇中。 [由RefSeq的,2008年7月提供]
CD3G基因(以及对应的蛋白质)的细胞分布位置:
CD3G基因的本体(GO)信息:
名称 |
---|
4640 Hematopoietic cell lineage [PATH:hsa04640] |
4660 T cell receptor signaling pathway [PATH:hsa04660] |
5166 HTLV-I infection [PATH:hsa05166] |
5162 Measles [PATH:hsa05162] |
5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
名称 |
---|
Adaptive Immune System |
Costimulation by the CD28 family |
Downstream TCR signaling |
Fcgamma receptor (FCGR) dependent phagocytosis |
FCGR activation |
Generation of second messenger molecules |
Immune System |
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
Innate Immune System |
PD-1 signaling |
Phosphorylation of CD3 and TCR zeta chains |
Regulation of actin dynamics for phagocytic cup formation |
Role of phospholipids in phagocytosis |
TCR signaling |
Translocation of ZAP-70 to Immunological synapse |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
IMMUNODEFICIENCY 17 | 0.24 | 0 | 3 | CLINVAR_ORPHANET |
IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
Celiac Disease | 0.005091382 | 2 | 0 | GAD_LHGDN |
HTLV-I Infections | 0.00272435 | 1 | 0 | LHGDN |
Rheumatoid Arthritis | 0.002367032 | 1 | 0 | GAD |
leukemia | 0.000542884 | 2 | 0 | BeFree |
Lymphopenia | 0.000542884 | 2 | 0 | BeFree |
Severe Combined Immunodeficiency | 0.000542884 | 2 | 0 | BeFree |
Lupus Erythematosus, Discoid | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
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