KIR2DS1

KIR2DS1 is a gene that encodes a killer cell immunoglobulin-like receptor (KIR) protein. Specifically, KIR2DS1 belongs to the activating KIR family. KIRs are a family of transmembrane glycoproteins expressed on natural killer (NK) cells and some T cells. They are involved in the regulation of the immune system.

KIR2DS1, along with other KIRs, interacts with major histocompatibility complex class I (MHC-I) molecules, also known as human leukocyte antigens (HLA), on the surface of other cells. This interaction can either activate or inhibit NK cell cytotoxicity, depending on the specific KIR and HLA allele involved. KIR2DS1 is an activating receptor, meaning that when it binds to its cognate HLA ligand (typically HLA-C group 2 alleles), it triggers an intracellular signaling cascade that leads to NK cell activation and the lysis of the target cell.

The primary function of KIR2DS1 is to detect cells that have reduced or altered expression of HLA-C group 2 alleles, such as those infected with viruses or transformed into cancer cells. By recognizing these cells, KIR2DS1 can trigger NK cell-mediated killing, contributing to the control of viral infections and tumor surveillance.

Genetic variation in the KIR2DS1 gene is associated with susceptibility or resistance to various diseases, including viral infections (like HIV), autoimmune disorders, and certain types of cancer. The presence or absence of the KIR2DS1 gene, as well as variations in its sequence, can influence the strength of NK cell responses and therefore the outcome of these diseases. The combination of specific KIR2DS1 alleles and their cognate HLA-C ligands determines the overall functional impact of KIR2DS1 in an individual's immune response. Because of its complex interaction with HLA and its role in immunity, KIR2DS1 is a subject of extensive research in immunology and genetics.