HLA-DRB5 (major histocompatibility complex, class II, DR beta 5)
- symbol:
- HLA-DRB5
- locus group:
- protein-coding gene
- location:
- 6p21.32
- gene_family:
- Histocompatibility complex|C1-set domain containing
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 3127
- ensembl gene id:
- ENSG00000198502
- ucsc gene id:
- uc003obj.4
- refseq accession:
- NM_002125
- hgnc_id:
- HGNC:4953
- approved reserved:
- 1990-10-16
HLA-DRB5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-DRB5基因位于6号染色体上，与HLA-DRB1基因紧密连锁。HLA-DRB5编码的蛋白质是HLA-DRβ链的一部分，与HLA-DRα链结合形成HLA-DR异二聚体，参与外源性抗原的呈递。HLA-DRB5的表达具有多态性，其表达水平在不同个体间存在差异。HLA-DRB5的突变可能影响其抗原结合能力或与T细胞的相互作用，导致免疫应答异常。HLA-DRB5与多种自身免疫性疾病相关，如多发性硬化症、类风湿性关节炎和系统性红斑狼疮。研究表明，某些HLA-DRB5等位基因可能增加或降低这些疾病的易感性。HLA-DRB5过表达可能导致过度免疫激活，增加自身免疫疾病风险；而表达降低可能削弱对外来病原体的免疫应答。HLA-DRB5的表达受多种因素调控，包括细胞因子和转录因子。HLA II类基因家族的共性包括编码细胞表面糖蛋白、参与抗原呈递、具有高度多态性以及在免疫应答中起核心作用。HLA-DRB5的研究有助于理解自身免疫疾病的发病机制和开发新的免疫治疗策略。
HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]
HLA-DRB5属于HLA II类β链旁系同源基??因。此Ⅱ类分子是选自由α（DRA）和β（DRB）链，无论在膜锚定的异源二聚体。它起着通过呈现由胞外蛋白衍生的肽在免疫系统中发挥中心作用。 （：B淋巴细胞，树突细胞，巨噬细胞，APC）II类分子在抗原呈递细胞中表达。的β链为约26-28 kDa和其基因含有6个外显子。外显子1编码前导肽，外显子2和3编码的两个细胞外结构域，外显子4编码的跨膜结构域和外显子5编码胞质尾区。在DR分子的β链包含了所有的多态性指定肽结合特异性。打字这些多态性是经常的骨髓和肾移植完成。 DRB1是在表达水平低于其旁系同源DRB3，DRB4和DRB5的5倍。 DRB5的存在与DRB1的等位基因变体相连，否则，它被删去。有4个相关的假：DRB2，DRB6，DRB7，DRB8和DRB9。 [由RefSeq的，2008年7月提供]
基因本体信息
HLA-DRB5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-DRB5基因的本体（GO）信息：
| 名称 |
|---|
| 4514 Cell adhesion molecules (CAMs) [PATH:hsa04514] |
| 4145 Phagosome [PATH:hsa04145] |
| 4640 Hematopoietic cell lineage [PATH:hsa04640] |
| 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 |
| Hypersensitivity | 0.12 | 1 | 0 | CTD_human |
| Multiple Sclerosis | 0.023169705 | 27 | 1 | BeFree_GAD_LHGDN |
| Lupus Erythematosus, Systemic | 0.014006695 | 12 | 0 | BeFree_GAD |
| Diabetes Mellitus, Insulin-Dependent | 0.01198705 | 21 | 0 | BeFree_GAD |
| HIV Infections | 0.00764398 | 4 | 0 | BeFree_GAD |
| Gestational Diabetes | 0.007372538 | 4 | 0 | BeFree_GAD |
| Sarcoidosis | 0.007372538 | 4 | 0 | BeFree_GAD |
| Rheumatoid Arthritis | 0.006710102 | 17 | 0 | BeFree_GAD |
| Systemic Scleroderma | 0.006091273 | 7 | 0 | BeFree_GAD |
| Tuberculosis | 0.005005506 | 3 | 0 | BeFree_GAD |
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