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Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4
KIR2DS4, KIR1D
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. [provided by RefSeq, Jul 2008] (from
NCBI)
Wu et al., Suzhou, China. In Biol Blood Marrow Transplant, Feb 2016
The associations between KIR2DS4 and its variant KIR1D with outcomes of HSCT from a sibling-related HLA-matched donor with KIR haplotype A have not been explored, however.
Kuśnierczyk et al., Poznań, Poland. In Arch Immunol Ther Exp (warsz), Feb 2016
The study revealed that levels of liver enzymes before therapy were about 30 % higher in patients who possessed a variant KIR2DS4 gene with 22-base pair deletion.
OBJECTIVE: The objective of this study is to identify human leukocyte antigen (HLA) class I and killer-cell immunoglobulin-like receptor (KIR) genotypes associated with different risks for HIV acquisition and HIV disease progression.
Kuijpers et al., Amsterdam, Netherlands. In Genes Immun, Mar 2015
In this way, we could show that KIR3DL1 and KIR2DS4 gene variants are linked and that--contrary to current views--the gene KIR2DS5 is only present in the telomeric half of the KIR locus.
Mahfouz et al., Beirut, Lebanon. In Meta Gene, 2014
CONCLUSION: The interesting observation of the significant presence of KIR2DS4 and KIR2DS5 genes more among multiple myeloma patients than controls is worth further clinical, translational as well as survival research studies in these cases.
RESULTS: The frequency of the homozygous A haplotype (only KIR2DS4 as activating KIR) was higher in symptomatic patients than controls (30% vs 12%, respectively; odds ratio [OR] = 3.24; P = .01).
The results of our meta-analysis show statistical significance between the genetic variations in the KIR2DL1, KIR2DS4, KIR2DS5 and KIR3DS1 genes and an increased susceptibility to AS (KIR2DL1: OR 7.82, 95% CI 3.87-15.81,
Kuśnierczyk et al., Wrocław, Poland. In Bmc Musculoskelet Disord, 2013
RESULTS: We observed that patients possessing the full-length KIR2DS4 (KIR2DS4f) gene had a lower chance of responding in comparison to KIR2DS4f-negative cases.
Tang et al., Birmingham, United States. In Plos One, 2013
BACKGROUND: KIR2DS4 gene variants encode full-length and truncated protein products, with only the former serving as membrane-bound receptors to activate natural killer (NK) cells.
Zaia et al., Duarte, United States. In Biol Blood Marrow Transplant, 2011
The CMV seropositivity of donors was not associated with activating KIR expression, and donor null expression in those with the KIR2DS2 or KIR2DS4 genotype was not predictive for CMV reactivation in the recipient.
Dolstra et al., Nijmegen, Netherlands. In Exp Hematol, 2011
Data indicate that the increased frequency of CD8(+) effector-memory T cells with activating NKR KIR2DS4, NKG2C and NKG2D, and cytotoxicity toward hematopoietic cell lines suggests involvement in bone marrow failure and clonal expansion in PNH.
Kaslow et al., Birmingham, United States. In J Infect Dis, 2011
KIR2DS4*001, the only allele of KIR2DS4 known to encode a functional activating receptor, was associated with relatively high viral load for HIV-1 and with accelerated transmission of HIV-1 to cohabiting seronegative partners.
significant association of full-length KIR2DS4 or KIR2DL1/3DL1 expression with the occurrence of acute graft vs host disease in hematopoietic stem cell transplantation