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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. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  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。 [由RefSeq的,2008年7月提供]
KIR2DL5A基因(以及对应的蛋白质)的细胞分布位置:
KIR2DL5A基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Ankylosing spondylitis | 0.011368221 | 9 | 0 | BeFree_GAD |
| Diabetes Mellitus, Insulin-Dependent | 0.010825337 | 9 | 0 | BeFree_GAD |
| HIV Infections | 0.009001189 | 10 | 0 | BeFree_GAD |
| Lupus Erythematosus, Systemic | 0.008458305 | 6 | 0 | BeFree_GAD |
| Psoriasis | 0.00827274 | 5 | 0 | BeFree_GAD_LHGDN |
| leukemia | 0.00764398 | 4 | 0 | BeFree_GAD |
| Hepatitis C, Chronic | 0.007101096 | 3 | 0 | GAD |
| Graft-vs-Host Disease | 0.006091273 | 7 | 0 | BeFree_GAD |
| Leukemia, Myelocytic, Acute | 0.005819831 | 6 | 0 | BeFree_GAD |
| Multiple Sclerosis | 0.00554839 | 5 | 0 | BeFree_GAD |
| Autoimmune Diseases | 0.005005506 | 3 | 0 | BeFree_GAD |
| Uveomeningoencephalitic Syndrome | 0.005005506 | 2 | 0 | BeFree_GAD |
| Spontaneous abortion | 0.004734064 | 2 | 0 | GAD |
| Hepatitis B, Chronic | 0.004734064 | 2 | 0 | GAD |
| Pregnancy loss | 0.004734064 | 2 | 0 | GAD |
| Myeloid Leukemia, Chronic | 0.003181358 | 4 | 0 | BeFree_GAD |
| Behcet Syndrome | 0.002909916 | 3 | 0 | BeFree_GAD |
| Cytomegalovirus Infections | 0.002909916 | 3 | 0 | BeFree_GAD |
| Tropical Spastic Paraparesis | 0.002638474 | 1 | 0 | BeFree_GAD |
| Familial Mediterranean Fever | 0.002638474 | 1 | 0 | BeFree_GAD |
| Acute GVH disease | 0.002638474 | 2 | 0 | BeFree_GAD |
| Recurrent respiratory papillomatosis | 0.002638474 | 1 | 0 | BeFree_GAD |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.002638474 | 2 | 0 | BeFree_GAD |
| Liver carcinoma | 0.002638474 | 2 | 0 | BeFree_GAD |
| Abortion, Habitual | 0.002367032 | 1 | 0 | GAD |
| Equine Infectious Anemia | 0.002367032 | 1 | 0 | GAD |
| Gastritis | 0.002367032 | 1 | 0 | GAD |
| Graves Disease | 0.002367032 | 1 | 0 | GAD |
| Hepatitis C | 0.002367032 | 1 | 0 | GAD |
| Leprosy | 0.002367032 | 1 | 0 | GAD |
| Leptospirosis | 0.002367032 | 1 | 0 | GAD |
| Myeloid Leukemia | 0.002367032 | 1 | 0 | GAD |
| Liver Cirrhosis | 0.002367032 | 1 | 0 | GAD |
| Liver neoplasms | 0.002367032 | 1 | 0 | GAD |
| Lymphocytosis | 0.002367032 | 1 | 0 | GAD |
| Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
| Neoplasm Recurrence, Local | 0.002367032 | 1 | 0 | GAD |
| Degenerative polyarthritis | 0.002367032 | 1 | 0 | GAD |
| Postoperative Complications | 0.002367032 | 1 | 0 | GAD |
| Hemorrhagic Fever, Ebola | 0.002367032 | 1 | 0 | GAD |
| Leukemia, Large Granular Lymphocytic | 0.002367032 | 1 | 0 | GAD |
| Arthritis, Psoriatic | 0.001357209 | 5 | 0 | BeFree |
| Rheumatoid Arthritis | 0.001357209 | 5 | 0 | BeFree |
| Lymphoma | 0.000814326 | 3 | 0 | BeFree |
| Malaria | 0.000814326 | 3 | 0 | BeFree |
| Psoriasis vulgaris | 0.000814326 | 3 | 0 | BeFree |
| Celiac Disease | 0.000542884 | 2 | 0 | BeFree |
| Endometriosis | 0.000542884 | 2 | 0 | BeFree |
| Hepatitis B | 0.000542884 | 2 | 0 | BeFree |
| Systemic Scleroderma | 0.000542884 | 2 | 0 | BeFree |
| Tuberculosis | 0.000542884 | 2 | 0 | BeFree |
| Tuberculosis, Pulmonary | 0.000542884 | 2 | 0 | BeFree |
| Aplastic Anemia | 0.000271442 | 1 | 0 | BeFree |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
| Leprosy, Lepromatous | 0.000271442 | 1 | 0 | BeFree |
| Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Obesity | 0.000271442 | 1 | 0 | BeFree |
| Virus Diseases | 0.000271442 | 1 | 0 | BeFree |
| Age related macular degeneration | 0.000271442 | 1 | 0 | BeFree |
| Neoplasm, Residual | 0.000271442 | 1 | 0 | BeFree |
| Superficial ulcer | 0.000271442 | 1 | 0 | BeFree |
| Idiopathic bronchiectasis | 0.000271442 | 1 | 0 | BeFree |
| Microscopic Polyangiitis | 0.000271442 | 1 | 0 | BeFree |
| Chronic Chagas' disease | 0.000271442 | 1 | 0 | BeFree |
| Leukaemia recurrent | 0.000271442 | 1 | 0 | BeFree |
| Colorectal cancer metastatic | 0.000271442 | 1 | 0 | BeFree |
| MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 0.000271442 | 1 | 0 | BeFree |
| Bone Marrow failure syndromes | 0.000271442 | 1 | 0 | BeFree |
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