KLRC2
killer cell lectin like receptor C2
Summary
Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2981595 | 12:10,583,297 | G/A | regulatory region variant | — |
| rs3003 | 12:10,583,611 | C/G | — | — |
| rs375212295 | 12:10,583,750 | G/C | — | uncertain significance |
| rs750916853 | 12:10,583,756 | C/T | — | uncertain significance |
| rs1863808160 | 12:10,583,804 | T/A | — | uncertain significance |
| rs76478238 | 12:10,584,192 | T/C | intron variant | — |
| rs2741884 | 12:10,585,040 | G/A | intron variant | — |
| rs112413037 | 12:10,585,253 | C/T | intron variant | — |
| rs2947114 | 12:10,585,446 | G/C | — | — |
| rs1201244225 | 12:10,586,422 | T/G | — | uncertain significance |
| rs376549170 | 12:10,586,479 | C/T | — | likely benign |
| rs769246569 | 12:10,586,493 | C/T | — | likely benign |
| rs1006808993 | 12:10,586,506 | T/C | — | uncertain significance |
| rs762754548 | 12:10,586,538 | C/T | — | uncertain significance |
| rs373440622 | 12:10,586,539 | G/A | — | uncertain significance |
| rs1141715 | 12:10,587,111 | A/G | — | benign |
| rs780064470 | 12:10,587,974 | C/A | — | uncertain significance |
| rs529518672 | 12:10,588,414 | T/C | — | uncertain significance |
| rs113695732 | 12:10,588,418 | A/G | — | benign |
| rs147031208 | 12:10,588,420 | C/T | — | uncertain significance |
| rs75545535 | 12:10,588,530 | C/G | — | benign |
| rs28403159 | 12:10,588,581 | T/C | — | benign |
| rs1915318 | 12:10,589,765 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.