CD3D (CD3 delta subunit of T-cell receptor complex)
- symbol:
- CD3D
- locus group:
- protein-coding gene
- location:
- 11q23.3
- gene_family:
- CD molecules
- alias symbol:
- CD3DELTA|CD3-DELTA
- alias name:
- T-cell surface glycoprotein CD3 de…
- entrez id:
- 915
- ensembl gene id:
- ENSG00000167286
- ucsc gene id:
- uc001pss.2
- refseq accession:
- NM_000732
- hgnc_id:
- HGNC:1673
- approved reserved:
- 1986-01-01
The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009]
由该基因编码的蛋白质是T细胞受体/ CD3复合物（TCR / CD3复合）的一部分，参与T细胞发育和信号转导。所编码的膜蛋白代表的CD3复合物的增量亚基，并与其他四个CD3亚基一起结合任一的TCRα/β或TCR伽玛/三角形以形成T细胞表面上的TCR / CD3复合。在这个基因的缺陷是严重的联合免疫缺陷常染色体隐性遗传的T细胞阴性??/ B细胞阳性/ NK细胞阳性（SCIDBNK）的一个原因。已发现该基因编码不同亚型的两个转录变异体。其它变型也是可能存在，但它们的转录物的全长性质尚未被定义。 [由RefSeq的，2009年2月提供]
基因本体信息
CD3D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
CD3D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 | 0.123810118 | 6 | 0 | BeFree_CTD_human_LHGDN |
| IMMUNODEFICIENCY 19 | 0.12 | 0 | 3 | CLINVAR |
| Neurotoxicity Syndromes | 0.12 | 1 | 0 | CTD_human |
| Dermatitis, Allergic Contact | 0.12 | 1 | 0 | CTD_human |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative | 0.12 | 0 | 0 | CTD_human |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive | 0.12 | 0 | 0 | CTD_human |
| Biliary cirrhosis | 0.12 | 1 | 0 | CTD_human |
| Liver diseases | 0.12 | 1 | 0 | CTD_human |
| Celiac Disease | 0.002367032 | 1 | 0 | GAD |
| Hay fever | 0.002367032 | 1 | 0 | GAD |
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