Aliases for CD48 Gene
External Ids for CD48 Gene
Previous HGNC Symbols for CD48 Gene
Previous GeneCards Identifiers for CD48 Gene
This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
GeneCards Summary for CD48 Gene
CD48 (CD48 Molecule) is a Protein Coding gene. Diseases associated with CD48 include Lymphoproliferative Syndrome, X-Linked, 1 and Cone-Rod Dystrophy 6. Among its related pathways are Cell surface interactions at the vascular wall and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include antigen binding. An important paralog of this gene is SLAMF8.
UniProtKB/Swiss-Prot Summary for CD48 Gene
Ligand for CD2. Might facilitate interaction between activated lymphocytes. Probably involved in regulating T-cell activation.