HLA-DQA2 (major histocompatibility complex, class II, DQ alpha 2)
- symbol:
- HLA-DQA2
- locus group:
- protein-coding gene
- location:
- 6p21.32
- gene_family:
- Histocompatibility complex|C1-set domain containing
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 3118
- ensembl gene id:
- ENSG00000237541
- ucsc gene id:
- uc011hzy.3
- refseq accession:
- NM_020056
- hgnc_id:
- HGNC:4943
- approved reserved:
- 2001-06-22
HLA-DQA2是人类白细胞抗原（HLA）基因家族中的一员，属于HLA II类基因。HLA基因家族编码主要组织相容性复合体（MHC）蛋白，在免疫系统中起关键作用，负责抗原呈递以激活T细胞。HLA-DQA2编码的蛋白质与HLA-DQB1或HLA-DQB2基因编码的蛋白质形成异源二聚体，共同构成HLA-DQ分子，参与外源性抗原的呈递过程。HLA-DQA2主要在抗原呈递细胞（如树突状细胞、B细胞和巨噬细胞）中表达。HLA-DQA2基因突变可能影响其与HLA-DQB基因产物的结合能力，导致抗原呈递功能受损，从而影响免疫应答。某些HLA-DQA2等位基因与自身免疫性疾病如乳糜泻、1型糖尿病和类风湿性关节炎的易感性相关。HLA-DQA2过表达可能导致过度免疫激活，增加自身免疫疾病风险；而表达降低则可能削弱对外来病原体的免疫应答，增加感染风险。HLA基因家族具有高度多态性，成员间共享相似的基因结构和功能，均参与抗原呈递和免疫调节。HLA-DQA2与家族其他成员如HLA-DQA1有较高序列相似性，但表达模式和功能存在差异。
This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010]
None
基因本体信息
HLA-DQA2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
HLA-DQA2基因的本体（GO）信息：
| 名称 |
|---|
| 4514 Cell adhesion molecules (CAMs) [PATH:hsa04514] |
| 4145 Phagosome [PATH:hsa04145] |
| 4612 Antigen processing and presentation [PATH:hsa04612] |
| 4672 Intestinal immune network for IgA production [PATH:hsa04672] |
| 5310 Asthma [PATH:hsa05310] |
| 5322 Systemic lupus erythematosus [PATH:hsa05322] |
| 5323 Rheumatoid arthritis [PATH:hsa05323] |
| 5320 Autoimmune thyroid disease [PATH:hsa05320] |
| 5321 Inflammatiory bowel disease (IBD) [PATH:hsa05321] |
| 5330 Allograft rejection [PATH:hsa05330] |
| 5332 Graft-versus-host disease [PATH:hsa05332] |
| 5416 Viral myocarditis [PATH:hsa05416] |
| 4940 Type I diabetes mellitus [PATH:hsa04940] |
| 5150 Staphylococcus aureus infection [PATH:hsa05150] |
| 5152 Tuberculosis [PATH:hsa05152] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 5164 Influenza A [PATH:hsa05164] |
| 5168 Herpes simplex infection [PATH:hsa05168] |
| 5169 Epstein-Barr virus infection [PATH:hsa05169] |
| 5145 Toxoplasmosis [PATH:hsa05145] |
| 5140 Leishmaniasis [PATH:hsa05140] |
| 名称 |
|---|
| Adaptive Immune System |
| Costimulation by the CD28 family |
| Cytokine Signaling in Immune system |
| Downstream TCR signaling |
| Generation of second messenger molecules |
| Immune System |
| Interferon gamma signaling |
| Interferon Signaling |
| MHC class II antigen presentation |
| 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 |
| Rheumatoid Arthritis | 0.123452799 | 6 | 8 | BeFree_CTD_human_GAD |
| Hepatitis B, Chronic | 0.120542884 | 3 | 1 | BeFree_GWASCAT |
| Diabetes Mellitus, Insulin-Dependent | 0.018653544 | 61 | 2 | BeFree_GAD |
| Celiac Disease | 0.006786047 | 25 | 0 | BeFree |
| Lupus Erythematosus, Systemic | 0.003995683 | 7 | 3 | BeFree_GAD |
| Graves Disease | 0.003528744 | 13 | 0 | BeFree |
| Asthma | 0.003181358 | 4 | 0 | BeFree_GAD |
| Narcolepsy | 0.002909916 | 3 | 0 | BeFree_GAD |
| Spontaneous abortion | 0.002367032 | 1 | 0 | GAD |
| Idiopathic Membranous Glomerulonephritis | 0.002171535 | 8 | 2 | BeFree |
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