KIR2DS4
killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4 (gene/pseudogene)
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 Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11667799 | 19:55,343,443 | G/C | — | — |
| rs113410873 | 19:55,344,235 | A/G | — | likely benign |
| rs746720874 | 19:55,344,243 | G/T | — | uncertain significance |
| rs114371119 | 19:55,345,723 | G/C | — | — |
| rs139861291 | 19:55,346,540 | T/C | — | uncertain significance |
| rs78487206 | 19:55,347,738 | G/T | — | — |
| rs112904746 | 19:55,349,034 | T/C | — | likely benign |
| rs1143507 | 19:55,349,070 | A/C | — | likely benign |
| rs2514371972 | 19:55,349,081 | T/C | — | uncertain significance |
| rs778305449 | 19:55,349,117 | G/A | — | likely benign |
| rs368657316 | 19:55,349,124 | T/G | — | uncertain significance |
| rs375695638 | 19:55,349,159 | A/C | — | uncertain significance |
| rs367851483 | 19:55,349,160 | A/G | — | uncertain significance |
| rs372124222 | 19:55,349,211 | A/G | — | uncertain significance |
| rs1130485 | 19:55,349,221 | T/C | — | likely benign |
| rs2514376042 | 19:55,349,230 | G/T | — | uncertain significance |
| rs2062924165 | 19:55,349,231 | A/C | — | uncertain significance |
| rs763642186 | 19:55,349,248 | A/G | — | likely benign |
| rs142635942 | 19:55,349,293 | G/T | — | uncertain significance |
| rs112240395 | 19:55,349,347 | A/T | intron variant | — |
| rs538956841 | 19:55,350,264 | G/C | — | — |
| rs1601579369 | 19:55,351,019 | A/G | — | likely benign |
| rs148015035 | 19:55,351,039 | C/T | — | likely benign |
| rs1601580596 | 19:55,351,094 | T/C | — | likely benign |
| rs111312586 | 19:55,351,112 | G/A | — | likely benign |
| rs34647213 | 19:55,353,731 | G/A | — | — |
| rs4806594 | 19:55,355,350 | A/G | intron variant | — |
| rs2365253 | 19:55,358,233 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.