The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质属于免疫球蛋白超家族。它是一个I型膜蛋白。该蛋白可能在免疫反应的后期阶段发挥活化T细胞和NK细胞的粘附相互作用的作用。它也可起到在抗原呈递。选择性剪接发生在此位点和两个转录物变体编码不同同种型也已确定。 [由RefSeq的,2008年7月提供]
CD96基因(以及对应的蛋白质)的细胞分布位置:
CD96基因的本体(GO)信息:
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 |
Opitz trigonocephaly syndrome | 0.480271442 | 1 | 1 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Bohring syndrome | 0.120271442 | 1 | 1 | BeFree_CTD_human |
Leukemia, Myelocytic, Acute | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Congenital Abnormality | 0.002367032 | 1 | 0 | GAD |
Chromosomal translocation | 0.002367032 | 1 | 0 | GAD |
Craniofacial Abnormalities | 0.002367032 | 1 | 0 | GAD |
Glomerular filtration rate finding | 0.002367032 | 1 | 1 | GAD |
Ki-1+ Anaplastic Large Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Undifferentiated leukemia | 0.000271442 | 1 | 0 | BeFree |
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