rs2255336
This is a protein-altering variant in the KLRK1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
NKG2-D type II integral membrane protein amount
▶Research that mentions this SNP (1)
▶Association of NKG2D genetic polymorphism with susceptibility to chronic hepatitis B in a Han Chinese populationAssociationN=500Juan Ma et al.(2010)· Journal of Medical Virology
This case-control association study of 500 Han Chinese patients analyzed genetic polymorphisms in NK cell receptor genes for association with chronic hepatitis B susceptibility. The TT genotype of rs2617160 in the NKG2D gene was independently associated with increased risk of chronic hepatitis B (P=0.044, OR=1.49, 95% CI=1.01-2.19), appearing more frequently in chronically infected patients (37.9%) than those who spontaneously cleared HBV (29.3%). Haplotype analysis of four NK receptor genes (KLRD1, KLRK1, KLRC4, KLRC1) showed no significant associations.
About KLRK1
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 NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-receptor interactions can result in the activation of NK and T cells. The surface expression of these ligands is important for the recognition of stressed cells by the immune system, and thus this protein and its ligands are therapeutic targets for the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lectin-like receptor subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010]
View all KLRK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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