InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CD96

Summary

InnateDB Protein

IDBP-49396.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CD96

Protein Name

CD96 molecule

Synonyms

TACTILE;

Species

Homo sapiens

Ensembl Protein

ENSP00000283285

InnateDB Gene

IDBG-49394 (CD96)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

C 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:0000269PubMed: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.

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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function