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MGP004168

UniProt Annotations

Entry Information
Gene NameCD96 molecule
Protein EntryTACT_HUMAN
UniProt IDP40200
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P40200-1; Sequence=Displayed; Name=2; IsoId=P40200-2; Sequence=VSP_029908;
Developmental StageExpressed at low levels on peripheral T-cells and is strongly up-regulated after activation, peaking 6 to 9 days after the activating stimulus.
DiseaseC syndrome (CSYN) [MIM:211750]: A syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. {ECO:0000269|PubMed:17847009}. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving CD96 has been found in a patient with C syndrome. 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.
FunctionMay 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.
SimilarityContains 1 Ig-like C2-type (immunoglobulin-like) domain. {ECO:0000305}.
SimilarityContains 2 Ig-like V-type (immunoglobulin-like) domains. {ECO:0000305}.
Subcellular LocationMembrane; Single-pass type I membrane protein.
SubunitHomodimer; disulfide-linked. Interacts with PVR. {ECO:0000269|PubMed:15034010}.
Tissue SpecificityExpressed 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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