Protein-coding gene in the species Homo sapiens
KIR3DL2 |
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Identifiers |
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Aliases | KIR3DL2, CD158K, NKAT-4, NKAT4, NKAT4B, p140, 3DL2, KIR-3DL2, killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 |
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External IDs | OMIM: 604947 HomoloGene: 129622 GeneCards: KIR3DL2 |
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Gene location (Human) |
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| Chr. | Chromosome 19 (human)[1] |
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| Band | 19q13.42 | Start | 54,850,443 bp[1] |
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End | 54,867,207 bp[1] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - blood
- spleen
- bone marrow
- right lung
- lymph node
- gallbladder
- upper lobe of left lung
- appendix
- thymus
- salivary gland
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| | More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - protein binding
- MHC class Ib protein binding
| Cellular component | - integral component of membrane
- plasma membrane
- integral component of plasma membrane
- membrane
| Biological process | - cellular defense response
- regulation of immune response
- negative regulation of neuron death
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | ENSG00000275629 ENSG00000275838 ENSG00000277709 ENSG00000273735 ENSG00000284192
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ENSG00000276004 ENSG00000278361 ENSG00000284046 ENSG00000278442 ENSG00000275416 ENSG00000275626 ENSG00000284295 ENSG00000278707 ENSG00000278758 ENSG00000278656 ENSG00000278850 ENSG00000284213 ENSG00000276424 ENSG00000284528 ENSG00000277982 ENSG00000274722 ENSG00000278726 ENSG00000275511 ENSG00000275083 ENSG00000273911 ENSG00000283975 ENSG00000276357 ENSG00000278809 ENSG00000277181 ENSG00000284384 ENSG00000283951 ENSG00000278403 ENSG00000275262 ENSG00000278710 ENSG00000275566 ENSG00000284063 ENSG00000276882 ENSG00000240403 ENSG00000276739 ENSG00000284466 ENSG00000278474 ENSG00000284381 ENSG00000288389 |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | |
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NP_001229796 NP_006728 NP_001229796.1 |
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Location (UCSC) | Chr 19: 54.85 – 54.87 Mb | n/a |
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PubMed search | [2] | n/a |
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Wikidata |
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Killer cell immunoglobulin-like receptor 3DL2 is a protein that in humans is encoded by the KIR3DL2 gene.[3][4][5]
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.[5]
See also
References
- ^ a b c ENSG00000275838, ENSG00000277709, ENSG00000273735, ENSG00000284192, ENSG00000276004, ENSG00000278361, ENSG00000284046, ENSG00000278442, ENSG00000275416, ENSG00000275626, ENSG00000284295, ENSG00000278707, ENSG00000278758, ENSG00000278656, ENSG00000278850, ENSG00000284213, ENSG00000276424, ENSG00000284528, ENSG00000277982, ENSG00000274722, ENSG00000278726, ENSG00000275511, ENSG00000275083, ENSG00000273911, ENSG00000283975, ENSG00000276357, ENSG00000278809, ENSG00000277181, ENSG00000284384, ENSG00000283951, ENSG00000278403, ENSG00000275262, ENSG00000278710, ENSG00000275566, ENSG00000284063, ENSG00000276882, ENSG00000240403, ENSG00000276739, ENSG00000284466, ENSG00000278474, ENSG00000284381, ENSG00000288389 GRCh38: Ensembl release 89: ENSG00000275629, ENSG00000275838, ENSG00000277709, ENSG00000273735, ENSG00000284192, ENSG00000276004, ENSG00000278361, ENSG00000284046, ENSG00000278442, ENSG00000275416, ENSG00000275626, ENSG00000284295, ENSG00000278707, ENSG00000278758, ENSG00000278656, ENSG00000278850, ENSG00000284213, ENSG00000276424, ENSG00000284528, ENSG00000277982, ENSG00000274722, ENSG00000278726, ENSG00000275511, ENSG00000275083, ENSG00000273911, ENSG00000283975, ENSG00000276357, ENSG00000278809, ENSG00000277181, ENSG00000284384, ENSG00000283951, ENSG00000278403, ENSG00000275262, ENSG00000278710, ENSG00000275566, ENSG00000284063, ENSG00000276882, ENSG00000240403, ENSG00000276739, ENSG00000284466, ENSG00000278474, ENSG00000284381, ENSG00000288389 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Colonna M, Samaridis J (May 1995). "Cloning of immunoglobulin-superfamily members associated with HLA-C and HLA-B recognition by human natural killer cells". Science. 268 (5209): 405–8. Bibcode:1995Sci...268..405C. doi:10.1126/science.7716543. PMID 7716543.
- ^ Dohring C, Samaridis J, Colonna M (Aug 1996). "Alternatively spliced forms of human killer inhibitory receptors". Immunogenetics. 44 (3): 227–30. doi:10.1007/BF02602590. PMID 8662091. S2CID 38478576.
- ^ a b "Entrez Gene: KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2".
Further reading
- Wagtmann N, Biassoni R, Cantoni C, et al. (1995). "Molecular clones of the p58 NK cell receptor reveal immunoglobulin-related molecules with diversity in both the extra- and intracellular domains". Immunity. 2 (5): 439–49. doi:10.1016/1074-7613(95)90025-X. PMID 7749980.
- Döhring C, Scheidegger D, Samaridis J, et al. (1996). "A human killer inhibitory receptor specific for HLA-A1,2". J. Immunol. 156 (9): 3098–101. doi:10.4049/jimmunol.156.9.3098. PMID 8617928.
- Pende D, Biassoni R, Cantoni C, et al. (1996). "The natural killer cell receptor specific for HLA-A allotypes: a novel member of the p58/p70 family of inhibitory receptors that is characterized by three immunoglobulin-like domains and is expressed as a 140-kD disulphide-linked dimer". J. Exp. Med. 184 (2): 505–18. doi:10.1084/jem.184.2.505. PMC 2192700. PMID 8760804.
- Wagtmann N, Rajagopalan S, Winter CC, et al. (1996). "Killer cell inhibitory receptors specific for HLA-C and HLA-B identified by direct binding and by functional transfer". Immunity. 3 (6): 801–9. doi:10.1016/1074-7613(95)90069-1. PMID 8777725.
- Uhrberg M, Valiante NM, Shum BP, et al. (1998). "Human diversity in killer cell inhibitory receptor genes". Immunity. 7 (6): 753–63. doi:10.1016/S1074-7613(00)80394-5. PMID 9430221.
- Kwon D, Chwae YJ, Choi IH, et al. (2000). "Diversity of the p70 killer cell inhibitory receptor (KIR3DL) family members in a single individual". Mol. Cells. 10 (1): 54–60. doi:10.1007/s10059-000-0054-0. PMID 10774747. S2CID 21075797.
- Goodier MR, Londei M (2000). "Lipopolysaccharide stimulates the proliferation of human CD56+CD3- NK cells: a regulatory role of monocytes and IL-10". J. Immunol. 165 (1): 139–47. doi:10.4049/jimmunol.165.1.139. PMID 10861046.
- Gardiner CM, Guethlein LA, Shilling HG, et al. (2001). "Different NK cell surface phenotypes defined by the DX9 antibody are due to KIR3DL1 gene polymorphism". J. Immunol. 166 (5): 2992–3001. doi:10.4049/jimmunol.166.5.2992. PMID 11207248.
- Shilling HG, Guethlein LA, Cheng NW, et al. (2002). "Allelic polymorphism synergizes with variable gene content to individualize human KIR genotype". J. Immunol. 168 (5): 2307–15. doi:10.4049/jimmunol.168.5.2307. PMID 11859120.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Chan HW, Kurago ZB, Stewart CA, et al. (2003). "DNA methylation maintains allele-specific KIR gene expression in human natural killer cells". J. Exp. Med. 197 (2): 245–55. doi:10.1084/jem.20021127. PMC 2193817. PMID 12538663.
- Becker S, Tonn T, Füssel T, et al. (2003). "Assessment of killer cell immunoglobulinlike receptor expression and corresponding HLA class I phenotypes demonstrates heterogenous KIR expression independent of anticipated HLA class I ligands". Hum. Immunol. 64 (2): 183–93. doi:10.1016/S0198-8859(02)00802-9. PMID 12559621.
- Dorothée G, Echchakir H, Le Maux Chansac B, et al. (2003). "Functional and molecular characterization of a KIR3DL2/p140 expressing tumor-specific cytotoxic T lymphocyte clone infiltrating a human lung carcinoma". Oncogene. 22 (46): 7192–8. doi:10.1038/sj.onc.1206627. PMID 14562047. S2CID 23893345.
- Artavanis-Tsakonas K, Eleme K, McQueen KL, et al. (2004). "Activation of a subset of human NK cells upon contact with Plasmodium falciparum-infected erythrocytes". J. Immunol. 171 (10): 5396–405. doi:10.4049/jimmunol.171.10.5396. PMID 14607943.
- Meenagh A, Williams F, Sleator C, et al. (2005). "Investigation of killer cell immunoglobulin-like receptor gene diversity V. KIR3DL2". Tissue Antigens. 64 (3): 226–34. doi:10.1111/j.1399-0039.2004.00272.x. PMID 15304002.
- Yan LX, Zhu FM, Jiang K, et al. (2006). "Investigation of killer cell immunoglobulin-like receptors gene KIR3DL2 diversity and confirmation of KIR3DL2*015 in a Chinese population". Tissue Antigens. 68 (3): 220–4. doi:10.1111/j.1399-0039.2006.00651.x. PMID 16948642.
- Ortonne N, Bagot M, Bensussan A (2006). "[KIR3DL2: a new step for the management of patients with Sezary syndrome]" (PDF). Med Sci (Paris). 22 (8–9): 691–3. doi:10.1051/medsci/20062289691. PMID 16962036.
- Gedil MA, Steiner NK, Hurley CK (2007). "KIR3DL2: diversity in a hematopoietic stem cell transplant population". Tissue Antigens. 70 (3): 228–32. doi:10.1111/j.1399-0039.2007.00880.x. PMID 17661911.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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