developmental stage:Expressed at low levels on peripheral T-cells and is strongly up-regulated after activation , peaking 6 to 9 days after the activating stimulus. ,Disease:A chromosomal aberration involving CD96 is associated with C syndrome [MIM:211750]. Translocation t (3;18) (q13.13;q12.1) . CD96 gene was located at the 3q13.13 breakpoint. Precise structural analysis around the breakpoint showed that the gene was disrupted by the translocation in exon 5 , probably leading to premature termination or loss of expression of CD96 protein. No gene was detected at the chromosome 18 breakpoint. ,Disease:Defects in CD96 are a cause of C syndrome [MIM:211750]; also called Opitz trigonocephaly syndrome. This syndrome is characterized by trigonocephaly and associated anomalies , such as unusual facies , wide alveolar ridges , multiple buccal frenula , limb defects , visceral anomalies , redundant skin , psychomotor retardation and hypotonia. ,Disease:Defects in CD96 are a cause of C-like syndrome [MIM:605039]; also called Opitz trigonocephaly-like syndrome. The C-like syndrome seems to be a severe form of the C syndrome. It is controversial whether there is (1) a gradient of spectrum in the C syndrome , from the mild form (C syndrome) to the severe form (C-like syndrome) , or (2) genetic heterogeneity among the patients with the C syndrome. ,May be involved in adhesive interactions of activated T and NK cells during the late phase of the immune response. Promotes NK cell-target adhesion by interacting with PVR present on target cells. May function at a time after T and NK cells have penetrated the endothelium using integrins and selectins , when they are actively engaging diseased cells and moving within areas of inflammation. ,similarity:Contains 1 Ig-like C2-type (immunoglobulin-like) domain. ,similarity:Contains 2 Ig-like V-type (immunoglobulin-like) domains. ,subunit:Homodimer; disulfide-linked. Interacts with PVR. ,tissue specificity:Expressed on normal T-cell lines and clones , and some transformed T-cells , but no other cultured cell lines tested. It is expressed at very low levels on activated B-cells. ,
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