KIR2DL4 - killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Gene

中文名称：杀伤细胞免疫球蛋白样受体，两个 Ig 结构域和长胞质尾 4

种属: Homo sapiens

同用名: G9P; CD158D; KIR103; KIR-2DL4; KIR103AS; KIR-103AS

关于 KIR2DL4

功能概要

杀伤细胞免疫球蛋白样受体 (KIR) 是由自然杀伤细胞和 T 细胞亚群表达的跨膜糖蛋白。 KIR 基因具有多态性和高度同源性，它们位于 1 Mb 白细胞受体复合体 (LRC) 内染色体 19q13.4 的簇中。 KIR 基因簇的基因含量因单倍型而异，尽管在所有单倍型 (KIR3DL3、KIR3DP1、KIR3DL4、KIR3DL2) 中都发现了几个“框架”基因。 KIR 蛋白根据细胞外免疫球蛋白结构域 (2D 或 3D) 的数量以及它们是否具有长 (L) 或短 (S) 细胞质结构域进行分类。具有长细胞质结构域的 KIR 蛋白通过基于免疫酪氨酸的抑制基序 (ITIM) 在配体结合后转导抑制信号，而具有短细胞质结构域的 KIR 蛋白缺乏 ITIM 基序，而是与 TYRO 蛋白酪氨酸激酶结合蛋白结合以转导激活信号。几种 KIR 蛋白的配体是 HLA I 类分子的子集；因此，KIR 蛋白被认为在免疫反应的调节中起重要作用。该基因是存在于所有单倍型上的“框架”位点之一。该基因的替代等位基因在多个替代参考基因座 (ALT_REF_LOCs) 上表示。可变剪接导致多个转录本变体，其中一些可能未在主要参考装配上注释。[RefSeq 提供，2016 年 7 月]

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. Alternate alleles of this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splicing results in multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016]