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Cd96

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.

Function

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.

Involvement in disease

C syndrome

CSYN

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.

None

The disease is caused by variants 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.

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.

Cellular localization

  • Membrane
  • Single-pass type I membrane protein

Alternative names

  • T-cell surface protein tactile
  • Cell surface antigen CD96
  • T cell-activated increased late expression protein
  • CD96

Target type

Proteins

Primary research area

Immuno-oncology

Molecular weight

65634Da