CD96
CD96 (CD96 Molecule) is a Protein Coding gene. Diseases associated with CD96 include Cat Eye Syndrome and Crouzon Syndrome. Among its related pathways are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Innate Immune System.
Alternative Names
CD96 Molecule; T Cell-Activated Increased Late Expression Protein; Cell Surface Antigen CD96; CD96 Antigen; T Cell Activation, Increased Late Expression; T-Cell Surface Protein Tactile; TACTILE;
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.
Biological Process
Cell adhesion Source: ProtInc
Cell-matrix adhesion Source: MGI
Immune response Source: ProtInc
Inflammatory response Source: GO_Central
Negative regulation of interferon-gamma production Source: Ensembl
Negative regulation of natural killer cell cytokine production Source: Ensembl
Regulation of immune response Source: Reactome
Response to lipopolysaccharide Source: Ensembl
Cellular Location
Membrane
Involvement in disease
C syndrome (CSYN): 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.
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.
Topology
Extracellular: 22-519
Helical: 520-540
Cytoplasmic: 541-585
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