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Gene Review

KIR2DS4  -  killer cell immunoglobulin-like receptor,...

Homo sapiens

Synonyms: CD158 antigen-like family member I, CD158I, CD158i, KIR1D, KIR2DS1, ...
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Disease relevance of KIR2DS4


Psychiatry related information on KIR2DS4


High impact information on KIR2DS4


Chemical compound and disease context of KIR2DS4

  • Substitution of a basic amino acid for asparagine at residue 47, conserved in all known murine Pax and human PAX genes, appears to have a more drastic effect on the phenotype than missense, frameshift and deletion mutations of PAX3 that cause Waardenburg syndrome type 1 [10].

Biological context of KIR2DS4

  • The genes KIR3DL1, KIR2DS4 and KIR2DL3 were present on 31, 32 and 15 different B haplotypes, respectively, and 64, 65 and 40 of the total B haplotypes, respectively [11].
  • The method was designed around the specific amplification of exons 4-5 of the KIR2DS4 gene [12].
  • We observed eleven different genotypes and four KIR2DS4 alleles in the population, with the KIR2DS4*00101 having the highest frequency, 0.576, and also confirmed the new KIR2DS4*007 allele [12].
  • Furthermore, cell line DNA and families from the 13th International Histocompatibility Workshop, in addition to local families, have also been allele typed at the KIR2DS4 locus [13].
  • Haplotype definition included subtyping for the expressed and nonexpressed KIR2DL5 variants, for two alleles of pseudogene 3DP1, and for two alleles of 2DS4, including a novel 2DS4 allele, KIR1D [14].

Anatomical context of KIR2DS4


Associations of KIR2DS4 with chemical compounds

  • Similar to p50 molecules, the KKA3-encoded molecules are characterized by two extracellular immunoglobulin-like domains, by the presence of a lysine in the transmembrane region and a short (39 amino acids) cytoplasmic tail which does not contain immune receptor tyrosine-based activation motifs (ITAM)-like sequences [20].
  • In this review, we discuss the basic aspects of PAX gene structure and function and how mutations of PAX2 might interfere with structure of the developing nephron [21].

Other interactions of KIR2DS4

  • The binding of KIR2DS4-Ig to HLA-Cw4 is weaker than that of killer cell Ig-like receptor two-domain long tail number 1 (KIR2DL1)-Ig fusion protein; however, such weak recognition is capable of inhibiting lysis by an NK transfectant expressing a chimeric molecule of KIR2DS4 fused to the transmembrane and cytoplasmic portion of KIR2DL1 [15].
  • In this report, we demonstrate that recognition of HLA-Cw3 by the p50 KAR, NKAT8, can potentiate the cytotoxic response of appropriate NK cell clones [17].
  • A polymerase chain reaction sequence-specific oligonucleotide probe typing method identifying and distinguishing alleles of the KIR2DS4 gene has been established [13].

Analytical, diagnostic and therapeutic context of KIR2DS4


  1. MHC class I-independent recognition of NK-activating receptor KIR2DS4. Katz, G., Gazit, R., Arnon, T.I., Gonen-Gross, T., Tarcic, G., Markel, G., Gruda, R., Achdout, H., Drize, O., Merims, S., Mandelboim, O. J. Immunol. (2004) [Pubmed]
  2. Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. Stapleton, P., Weith, A., Urbánek, P., Kozmik, Z., Busslinger, M. Nat. Genet. (1993) [Pubmed]
  3. Induction of apoptosis in rhabdomyosarcoma cells through down-regulation of PAX proteins. Bernasconi, M., Remppis, A., Fredericks, W.J., Rauscher, F.J., Schäfer, B.W. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  4. Deregulated expression of PAX5 in medulloblastoma. Kozmik, Z., Sure, U., Rüedi, D., Busslinger, M., Aguzzi, A. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  5. Identification and epitope enhancement of a PAX-FKHR fusion protein breakpoint epitope in alveolar rhabdomyosarcoma cells created by a tumorigenic chromosomal translocation inducing CTL capable of lysing human tumors. van den Broeke, L.T., Pendleton, C.D., Mackall, C., Helman, L.J., Berzofsky, J.A. Cancer Res. (2006) [Pubmed]
  6. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Sanyanusin, P., Schimmenti, L.A., McNoe, L.A., Ward, T.A., Pierpont, M.E., Sullivan, M.J., Dobyns, W.B., Eccles, M.R. Nat. Genet. (1995) [Pubmed]
  7. Loss of p53 function through PAX-mediated transcriptional repression. Stuart, E.T., Haffner, R., Oren, M., Gruss, P. EMBO J. (1995) [Pubmed]
  8. Homeobox gene methylation in lung cancer studied by genome-wide analysis with a microarray-based methylated CpG island recovery assay. Rauch, T., Wang, Z., Zhang, X., Zhong, X., Wu, X., Lau, S.K., Kernstine, K.H., Riggs, A.D., Pfeifer, G.P. Proc. Natl. Acad. Sci. U.S.A. (2007) [Pubmed]
  9. Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample. Rademakers, R., Cruts, M., Sleegers, K., Dermaut, B., Theuns, J., Aulchenko, Y., Weckx, S., De Pooter, T., Van den Broeck, M., Corsmit, E., De Rijk, P., Del-Favero, J., van Swieten, J., van Duijn, C.M., Van Broeckhoven, C. Am. J. Hum. Genet. (2005) [Pubmed]
  10. Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. Asher, J.H., Sommer, A., Morell, R., Friedman, T.B. Hum. Mutat. (1996) [Pubmed]
  11. KIR haplotype content at the allele level in 77 Northern Irish families. Middleton, D., Meenagh, A., Gourraud, P.A. Immunogenetics (2007) [Pubmed]
  12. Diversity of the killer cell immunoglobulin-like receptor gene KIR2DS4 in the Chinese population. Yan, L.X., Zhu, F.M., Jiang, K., He, J. Tissue Antigens (2007) [Pubmed]
  13. Investigation of killer cell immunoglobulin-like receptor gene diversity: II. KIR2DS4. Maxwell, L.D., Williams, F., Gilmore, P., Meenagh, A., Middleton, D. Hum. Immunol. (2004) [Pubmed]
  14. Killer Ig-like receptor haplotype analysis by gene content: evidence for genomic diversity with a minimum of six basic framework haplotypes, each with multiple subsets. Hsu, K.C., Liu, X.R., Selvakumar, A., Mickelson, E., O'Reilly, R.J., Dupont, B. J. Immunol. (2002) [Pubmed]
  15. Recognition of HLA-Cw4 but not HLA-Cw6 by the NK cell receptor killer cell Ig-like receptor two-domain short tail number 4. Katz, G., Markel, G., Mizrahi, S., Arnon, T.I., Mandelboim, O. J. Immunol. (2001) [Pubmed]
  16. Hypothetical soluble KIR2DS4 natural killer cell receptor molecule does not associate with successful ageing in the Irish. Ross, O.A., Maxwell, L.D., Rea, I.M., Curran, M.D. Exp. Gerontol. (2004) [Pubmed]
  17. Signaling through human killer cell activating receptors triggers tyrosine phosphorylation of an associated protein complex. Campbell, K.S., Cella, M., Carretero, M., López-Botet, M., Colonna, M. Eur. J. Immunol. (1998) [Pubmed]
  18. Heritable diseases of the skeleton. Part I: Molecular insights into skeletal development-transcription factors and signaling pathways. Mundlos, S., Olsen, B.R. FASEB J. (1997) [Pubmed]
  19. Paired-Box genes are frequently expressed in cancer and often required for cancer cell survival. Muratovska, A., Zhou, C., He, S., Goodyer, P., Eccles, M.R. Oncogene (2003) [Pubmed]
  20. A novel surface molecule homologous to the p58/p50 family of receptors is selectively expressed on a subset of human natural killer cells and induces both triggering of cell functions and proliferation. Bottino, C., Sivori, S., Vitale, M., Cantoni, C., Falco, M., Pende, D., Morelli, L., Augugliaro, R., Semenzato, G., Biassoni, R., Moretta, L., Moretta, A. Eur. J. Immunol. (1996) [Pubmed]
  21. What PAX genes do in the kidney. Torban, E., Goodyer, P. Exp. Nephrol. (1998) [Pubmed]
  22. Functional analysis of paired box missense mutations in the PAX6 gene. Tang, H.K., Chao, L.Y., Saunders, G.F. Hum. Mol. Genet. (1997) [Pubmed]
  23. Identification of a PAX-FKHR gene expression signature that defines molecular classes and determines the prognosis of alveolar rhabdomyosarcomas. Davicioni, E., Finckenstein, F.G., Shahbazian, V., Buckley, J.D., Triche, T.J., Anderson, M.J. Cancer Res. (2006) [Pubmed]
  24. Expression of PAX 3 alternatively spliced transcripts and identification of two new isoforms in human tumors of neural crest origin. Parker, C.J., Shawcross, S.G., Li, H., Wang, Q.Y., Herrington, C.S., Kumar, S., MacKie, R.M., Prime, W., Rennie, I.G., Sisley, K., Kumar, P. Int. J. Cancer (2004) [Pubmed]
  25. Differential expression of the chicken Pax-1 and Pax-9 gene: in situ hybridization and immunohistochemical analysis. Peters, H., Doll, U., Niessing, J. Dev. Dyn. (1995) [Pubmed]
  26. Use of a novel FISH assay on paraffin-embedded tissues as an adjunct to diagnosis of alveolar rhabdomyosarcoma. Nishio, J., Althof, P.A., Bailey, J.M., Zhou, M., Neff, J.R., Barr, F.G., Parham, D.M., Teot, L., Qualman, S.J., Bridge, J.A. Lab. Invest. (2006) [Pubmed]
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