KLRC1
killer cell lectin like receptor C1
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. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7957375 | 12:10,596,720 | T/C | downstream gene variant | — |
| rs61917716 | 12:10,597,582 | A/C | downstream gene variant | — |
| rs2734419 | 12:10,598,538 | T/G | — | — |
| rs2734414 | 12:10,598,802 | A/T | regulatory region variant | — |
| rs763426864 | 12:10,599,167 | A/T | — | uncertain significance |
| rs377273500 | 12:10,599,170 | G/A | — | uncertain significance |
| rs2682471 | 12:10,599,347 | T/G | upstream gene variant | — |
| rs181158957 | 12:10,600,137 | T/C | — | uncertain significance |
| rs369792162 | 12:10,600,186 | G/A | — | uncertain significance |
| rs1851073 | 12:10,600,589 | G/A | — | — |
| rs7301582 | 12:10,601,690 | C/T | intron variant | — |
| rs773012109 | 12:10,601,840 | T/C | — | uncertain significance |
| rs2734440 | 12:10,602,077 | C/T | intron variant | — |
| rs776358075 | 12:10,602,529 | A/T | — | uncertain significance |
| rs540820887 | 12:10,603,106 | A/G | — | uncertain significance |
| rs112218726 | 12:10,603,517 | C/T | intron variant | — |
| rs142983959 | 12:10,603,634 | G/A | — | uncertain significance |
| rs769120555 | 12:10,603,659 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.