The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -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. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是CD3厄普西隆多肽,其用CD3-γ,-delta和-zeta,和T-细胞受体α/β和γ/三角异,一起形成的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的多肽的基因位于同一集群中的11号染色体的小量多肽在T-细胞发育中起重要作用。缺陷这个基因导致免疫缺陷。这种基因也被链接到易感性键入妇女I型糖尿病。 [由RefSeq的,2008年7月提供]
CD3E基因(以及对应的蛋白质)的细胞分布位置:
CD3E基因的本体(GO)信息:
名称 |
---|
4640 Hematopoietic cell lineage [PATH:hsa04640] |
4660 T cell receptor signaling pathway [PATH:hsa04660] |
5340 Primary immunodeficiency [PATH:hsa05340] |
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 |
Generation of second messenger molecules |
Immune System |
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
PD-1 signaling |
Phosphorylation of CD3 and TCR zeta chains |
TCR signaling |
Translocation of ZAP-70 to Immunological synapse |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Severe Combined Immunodeficiency | 0.120542884 | 3 | 0 | BeFree_CTD_human |
Immunologic Deficiency Syndromes | 0.120271442 | 2 | 0 | BeFree_CTD_human |
IMMUNODEFICIENCY 18 | 0.12 | 0 | 2 | CLINVAR |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive | 0.12 | 0 | 0 | CTD_human |
Inflammation | 0.12 | 1 | 0 | CTD_human |
Rheumatoid Arthritis | 0.12 | 1 | 0 | CTD_human |
Adenocarcinoma | 0.00272435 | 1 | 0 | LHGDN |
Renal Cell Carcinoma | 0.00272435 | 1 | 0 | LHGDN |
Carcinoma, Transitional Cell | 0.00272435 | 1 | 0 | LHGDN |
Celiac Disease | 0.002367032 | 1 | 0 | GAD |
关注微信订阅号,实时查看信息,关注医学生物学动态。