CD48

Description

The CD48 (CD48 molecule) is a protein-coding gene located on chromosome 1.

CD48, also known as B-lymphocyte activation marker (BLAST-1), signaling lymphocytic activation molecule 2 (SLAMF2), or TCT.1, is a protein encoded by the CD48 gene in humans. It belongs to the CD2 subfamily of the immunoglobulin superfamily (IgSF), which includes SLAM proteins like CD84, CD150, CD229, and CD244. CD48 is found on the surface of lymphocytes, other immune cells, dendritic cells, and endothelial cells. It plays a role in the activation and differentiation of these cells. CD48 is located on chromosome 1q23 and consists of four domains: a signal peptide, a variable (V) domain, a constant 2 (C2) domain, and a glycophosphatidylinositol anchor (GPI anchor). The protein is heavily glycosylated with five potential asparagine-linked glycosylation sites.

CD48 is a cell surface protein that interacts with other receptors, such as CD2 and CD244, to regulate immune cell function and activation. It participates in T-cell signaling by associating with CD2, bringing the LCK protein kinase and LAT to the TCR/CD3 complex, which promotes LCK phosphorylation and activation. CD48 also initiates signaling events in NK cells and T lymphocytes that lead to the formation of the immunological synapse and the release of cytotoxic granules.

CD48 is also known as BCM1, BLAST, BLAST1, MEM-102, SLAMF2, hCD48, mCD48.

Associated Diseases

WES Whole Exome Sequencing