KIR2DL1

killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1

Summary

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. [provided by RefSeq, Jul 2008]

Known Variants15 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18673390619:55,283,590C/Gdownstream gene variant—
rs37128944419:55,284,821G/A—likely benign
rs3550991119:55,284,824G/C—benign
rs68700019:55,284,858G/A—likely benign
rs7900255819:55,284,976A/G—likely benign
rs68748519:55,284,986C/A—uncertain significance
rs7441545319:55,284,987G/A—likely benign
rs7699139619:55,285,053T/G—likely benign
rs56494881419:55,285,081A/G—likely benign
rs19964415319:55,286,665T/A—likely benign
rs20074602419:55,286,767G/T—likely benign
rs53855988819:55,286,770C/G—likely benign
rs131306296119:55,291,542G/A—likely benign
rs20152731619:55,359,436G/A—likely benign
rs275692319:55,359,483A/G—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.