KLRC4
killer cell lectin like receptor C4
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. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs766206310 | 12:10,560,271 | G/C | — | uncertain significance |
| rs781732297 | 12:10,560,322 | T/C | — | uncertain significance |
| rs201936811 | 12:10,560,385 | C/T | — | uncertain significance |
| rs17513986 | 12:10,560,704 | A/C | downstream gene variant | — |
| rs2617169 | 12:10,560,824 | T/A | downstream gene variant | — |
| rs2617170 | 12:10,560,957 | T/C | missense variant | benign |
| rs2497584771 | 12:10,560,969 | A/T | — | uncertain significance |
| rs2617171 | 12:10,561,279 | C/G | downstream gene variant | — |
| rs2497586804 | 12:10,561,580 | C/T | — | uncertain significance |
| rs571344592 | 12:10,561,592 | C/G | — | uncertain significance |
| rs993640495 | 12:10,561,609 | C/A | — | uncertain significance |
| rs771983492 | 12:10,562,056 | T/C | — | uncertain significance |
| rs139613925 | 12:10,562,090 | T/C | — | uncertain significance |
| rs2137849390 | 12:10,562,110 | C/G | — | uncertain significance |
| rs1863553033 | 12:10,562,137 | A/C | — | uncertain significance |
| rs17549004 | 12:10,562,623 | G/T | — | — |
| rs3825295 | 12:10,562,675 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.