KIR3DL2(杀伤细胞免疫球蛋白样受体3DL2)属于KIR基因家族,这是一个编码自然杀伤(NK)细胞和某些T细胞表面受体的多基因家族,主要参与免疫调节。KIR家族成员通常识别MHC I类分子,调节NK细胞的活性,从而在抗感染、抗肿瘤和自身免疫中发挥作用。KIR3DL2是一种抑制性受体,通过识别HLA-A3和HLA-A11等MHC I类分子传递抑制信号,防止NK细胞攻击正常细胞。该基因的突变可能导致免疫功能异常,例如增加自身免疫疾病风险或降低对病毒感染和肿瘤的免疫监视能力。KIR3DL2的过表达可能过度抑制NK细胞活性,削弱机体抗肿瘤和抗病毒能力,而表达降低则可能导致NK细胞过度激活,增加自身免疫疾病风险。此外,KIR3DL2在T细胞淋巴瘤和某些自身免疫性疾病(如银屑病)中异常表达,可能与疾病进展相关。KIR基因家族的共性包括高度多态性、定位于19号染色体上的紧密连锁基因簇,以及通过识别MHC I类分子调节免疫反应的功能。KIR3DL2的遗传变异与个体对疾病的易感性和治疗反应差异相关,因此在免疫治疗和疾病预测中具有潜在应用价值。
Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]
杀伤细胞免疫球蛋白样受体(的KIRs)是通过自然杀伤细胞和T细胞亚群表达跨膜糖蛋白。的KIR基因多态和高度同源的并且它们中的1兆白细胞受体复合物(LRC)内染色体19q13.4群集找到。的KIR基因簇的基因含量的单倍型的不同而不同,虽然有几个“框架”的基因在所有的单倍型(KIR3DL3,KIR3DP1,KIR3DL4,KIR3DL2)找到。的KIR蛋白由细胞外免疫球蛋白结构域(2D或3D)的数目和由划分他们是否具有长(L)或短(S) - 胞质域。与长的胞质域的KIR蛋白质在配体经由一个基于免疫受体酪氨酸的抑制基序(ITIM)结合转导抑制性信号,同时与短胞质域KIR蛋白缺乏ITIM基序,而是与TYRO蛋白酪氨酸激酶关联结合蛋白转导激活信号。数KIR蛋白配体是HLA I类分子的子集;因而,KIR蛋白被认为在免疫应答的调节中发挥着重要作用。这个基因就是“框架”的位点是存在于所有的单倍型中的一个。编码多种亚型选择性剪接的转录物变体已经观察到这种基因。 [由RefSeq的,2011年6月提供]
KIR3DL2基因(以及对应的蛋白质)的细胞分布位置:
KIR3DL2基因的本体(GO)信息:
名称 |
---|
4650 Natural killer cell mediated cytotoxicity [PATH:hsa04650] |
4612 Antigen processing and presentation [PATH:hsa04612] |
5332 Graft-versus-host disease [PATH:hsa05332] |
名称 |
---|
Adaptive Immune System |
Immune System |
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Cervix carcinoma | 0.009468128 | 4 | 0 | GAD |
Diabetes Mellitus, Insulin-Dependent | 0.007101096 | 3 | 0 | GAD |
leukemia | 0.007101096 | 3 | 0 | GAD |
Graft-vs-Host Disease | 0.007101096 | 3 | 0 | GAD |
Sezary Syndrome | 0.005991584 | 4 | 0 | BeFree_LHGDN |
Ankylosing spondylitis | 0.00554839 | 4 | 0 | BeFree_GAD |
Autoimmune Diseases | 0.005005506 | 3 | 0 | BeFree_GAD |
Pregnancy loss | 0.004734064 | 2 | 0 | GAD |
Celiac Disease | 0.004734064 | 2 | 0 | GAD |
Psoriasis | 0.004734064 | 2 | 0 | GAD |
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