rs3745902
This is a protein-altering variant in the KIR3DL2 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.
blood protein amount
▶Research that mentions this SNP (1)
▶Pemphigus is associated with KIR3DL2 expression levels and provides evidence that KIR3DL2 may bind HLA‐A3 and A11 in vivoAssociationN=297Danillo G. Augusto et al.(2015)· European Journal of Immunology
This case-control association study (156 patients, 141 controls) identified KIR3DL2*001 as increasing susceptibility to pemphigus foliaceus (OR=2.04, p=0.007), with stronger risk when combined with HLA-A3/A11 ligands (OR=3.76, p=0.013). The SNP rs3745902 (1190C>T, causing Thr376Met) was protective (OR=0.52, p=0.018), correlating with lower KIR3DL2 expression levels. These findings provide the first in vivo evidence that HLA-A3 and A11 interact with KIR3DL2 and suggest KIR3DL2 expression levels are critical for disease susceptibility.
About KIR3DL2
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. This gene is one of the "framework" loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]
View all KIR3DL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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