Aliases for KIR2DL4 Gene
External Ids for KIR2DL4 Gene
Previous GeneCards Identifiers for KIR2DL4 Gene
Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
GeneCards Summary for KIR2DL4 Gene
KIR2DL4 (Killer Cell Immunoglobulin-Like Receptor, Two Domains, Long Cytoplasmic Tail, 4) is a Protein Coding gene. Diseases associated with KIR2DL4 include recurrent respiratory papillomatosis and leptospirosis. Among its related pathways are Class I MHC mediated antigen processing and presentation and Immune response Role of DAP12 receptors in NK cells. GO annotations related to this gene include transmembrane signaling receptor activity. An important paralog of this gene is KIR2DL3.
UniProtKB/Swiss-Prot for KIR2DL4 Gene
Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis