KIR2DS2(杀伤细胞免疫球蛋白样受体2DS2)属于KIR基因家族,这是一个编码自然杀伤(NK)细胞表面受体的多基因家族,主要参与免疫调节和识别异常细胞。KIR基因家族的共性在于它们编码的受体能够识别主要组织相容性复合体(MHC)I类分子,从而调节NK细胞的活性。KIR2DS2是一种激活性受体,其胞内区含有免疫受体酪氨酸激活基序(ITAM),能够传递激活信号,促进NK细胞对靶细胞的杀伤作用。KIR2DS2主要识别HLA-C分子,特别是HLA-C1组配体,这种相互作用在病毒感染和肿瘤免疫监视中发挥重要作用。KIR2DS2的突变可能导致其与配体结合能力改变,从而影响NK细胞的激活状态,可能导致免疫应答异常或自身免疫疾病风险增加。研究表明,KIR2DS2与某些疾病相关,如类风湿性关节炎、系统性红斑狼疮和某些病毒感染(如HIV和HCV)的易感性。KIR2DS2的过表达可能增强NK细胞的杀伤活性,提高对病毒感染或肿瘤细胞的清除能力,但也可能增加自身免疫疾病的风险;而降低表达可能导致免疫监视功能减弱,增加感染或肿瘤发生的可能性。KIR2DS2与其他KIR家族成员(如KIR2DL1、KIR2DL2/3)共同调节NK细胞功能,其表达水平和基因多态性在个体间差异较大,影响免疫应答的多样性和疾病易感性。
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 represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
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。该基因代表编码蛋白质具有短胞质尾的特定单倍型的家庭成员。选择性剪接结果在多个抄本变形。 [由RefSeq的,2014年4月提供]
KIR2DS2基因(以及对应的蛋白质)的细胞分布位置:
KIR2DS2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] |
名称 |
---|
Adaptive Immune System |
DAP12 interactions |
Immune System |
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
Innate Immune System |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Lupus Erythematosus, Systemic | 0.013006804 | 6 | 0 | BeFree_GAD_LHGDN |
Graft-vs-Host Disease | 0.00764398 | 5 | 0 | BeFree_GAD |
leukemia | 0.007372538 | 4 | 0 | BeFree_GAD |
Rheumatoid Arthritis | 0.00617715 | 6 | 0 | BeFree_GAD_LHGDN |
HIV Infections | 0.006091273 | 7 | 0 | BeFree_GAD |
Ankylosing spondylitis | 0.005276948 | 4 | 0 | BeFree_GAD |
Diabetes Mellitus, Insulin-Dependent | 0.005276948 | 4 | 0 | BeFree_GAD |
Hepatitis B, Chronic | 0.005005506 | 2 | 0 | BeFree_GAD |
Leukemia, Myelocytic, Acute | 0.005005506 | 3 | 0 | BeFree_GAD |
Psoriasis | 0.004734064 | 2 | 0 | GAD |
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