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KIR2DL4
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 3WYR
Identifiers
Aliases	KIR2DL4, CD158D, G9P, KIR-103AS, KIR103, KIR103AS, KIR, KIR-2DL4, killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4
External IDs	OMIM: 604945; HomoloGene: 124412; GeneCards: KIR2DL4; OMA:KIR2DL4 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) Band 19q13.42 Start 54,803,611 bp End 54,814,517 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle spleen granulocyte mucosa of transverse colon blood right lung rectum duodenum epithelium of colon appendix n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding transmembrane signaling receptor activity MHC class Ib receptor activity Cellular component integral component of membrane plasma membrane integral component of plasma membrane membrane endosome early endosome membrane Biological process cellular defense response signal transduction regulation of immune response positive regulation of natural killer cell cytokine production negative regulation of natural killer cell mediated cytotoxicity positive regulation of cellular senescence Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3805 n/a Ensembl ENSG00000274945 ENSG00000278606 ENSG00000277540 ENSG00000273575 ENSG00000275732 ENSG00000275699 ENSG00000275317 ENSG00000284509 ENSG00000277750 ENSG00000284365 ENSG00000275848 ENSG00000275456 ENSG00000274955 ENSG00000277964 ENSG00000277362 ENSG00000276979 ENSG00000283961 ENSG00000277850 ENSG00000284460 ENSG00000278074 ENSG00000277076 ENSG00000274189 ENSG00000276044 ENSG00000276779 ENSG00000277355 ENSG00000283869 ENSG00000278201 ENSG00000278271 ENSG00000275237 ENSG00000189013 ENSG00000273498 ENSG00000274193 ENSG00000278430 ENSG00000274232 ENSG00000274609 ENSG00000284013 ENSG00000283986 ENSG00000284340 ENSG00000284562 ENSG00000284206 ENSG00000284457 n/a UniProt Q99706 n/a RefSeq (mRNA) NM_002255 NM_001080770 NM_001080772 NM_001258383 n/a RefSeq (protein) NP_001074239 NP_001074241 NP_002246 n/a Location (UCSC) Chr 19: 54.8 – 54.81 Mb n/a PubMed search n/a
Wikidata
View/Edit Human

Killer cell immunoglobulin-like receptor 2DL4 is a protein that in humans is encoded by the KIR2DL4 gene.

Function

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of CD8+ 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, KIR2DL4, 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. Alternative splicing results in multiple transcript variants.

The only so far reported ligand of KIR2DL4 is the non-classical HLA class 1 gene HLA-G, leading to the inhibition of the cytolytic NK cell function.

See also

• Cluster of differentiation

References

1. ^ ENSG00000278606, ENSG00000277540, ENSG00000273575, ENSG00000275732, ENSG00000275699, ENSG00000275317, ENSG00000284509, ENSG00000277750, ENSG00000284365, ENSG00000275848, ENSG00000275456, ENSG00000274955, ENSG00000277964, ENSG00000277362, ENSG00000276979, ENSG00000283961, ENSG00000277850, ENSG00000284460, ENSG00000278074, ENSG00000277076, ENSG00000274189, ENSG00000276044, ENSG00000276779, ENSG00000277355, ENSG00000283869, ENSG00000278201, ENSG00000278271, ENSG00000275237, ENSG00000189013, ENSG00000273498, ENSG00000274193, ENSG00000278430, ENSG00000274232, ENSG00000274609, ENSG00000284013, ENSG00000283986, ENSG00000284340, ENSG00000284562, ENSG00000284206, ENSG00000284457 GRCh38: Ensembl release 89: ENSG00000274945, ENSG00000278606, ENSG00000277540, ENSG00000273575, ENSG00000275732, ENSG00000275699, ENSG00000275317, ENSG00000284509, ENSG00000277750, ENSG00000284365, ENSG00000275848, ENSG00000275456, ENSG00000274955, ENSG00000277964, ENSG00000277362, ENSG00000276979, ENSG00000283961, ENSG00000277850, ENSG00000284460, ENSG00000278074, ENSG00000277076, ENSG00000274189, ENSG00000276044, ENSG00000276779, ENSG00000277355, ENSG00000283869, ENSG00000278201, ENSG00000278271, ENSG00000275237, ENSG00000189013, ENSG00000273498, ENSG00000274193, ENSG00000278430, ENSG00000274232, ENSG00000274609, ENSG00000284013, ENSG00000283986, ENSG00000284340, ENSG00000284562, ENSG00000284206, ENSG00000284457 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. Selvakumar A, Steffens U, Dupont B (October 1996). "NK cell receptor gene of the KIR family with two IG domains but highest homology to KIR receptors with three IG domains". Tissue Antigens. 48 (4 Pt 1): 285–94. doi:10.1111/j.1399-0039.1996.tb02647.x. PMID 8946682.
4. ^ "Entrez Gene: KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4".
5. ^ Carosella ED, Favier B, Rouas-Freiss N, Moreau P, Lemaoult J (May 2008). "Beyond the increasing complexity of the immunomodulatory HLA-G molecule". Blood. 111 (10): 4862–70. doi:10.1182/blood-2007-12-127662. PMID 18334671.

Further reading

• Selvakumar A, Steffens U, Dupont B (1997). "Polymorphism and domain variability of human killer cell inhibitory receptors". Immunol. Rev. 155: 183–96. doi:10.1111/j.1600-065X.1997.tb00951.x. PMID 9059894. S2CID 7040904.
• Selvakumar A, Steffens U, Palanisamy N, Chaganti RS, Dupont B (1997). "Genomic organization and allelic polymorphism of the human killer cell inhibitory receptor gene KIR103". Tissue Antigens. 49 (6): 564–73. doi:10.1111/j.1399-0039.1997.tb02803.x. PMID 9234477.
• Valiante NM, Uhrberg M, Shilling HG, Lienert-Weidenbach K, Arnett KL, D'Andrea A, Phillips JH, Lanier LL, Parham P (1997). "Functionally and structurally distinct NK cell receptor repertoires in the peripheral blood of two human donors". Immunity. 7 (6): 739–51. doi:10.1016/S1074-7613(00)80393-3. PMID 9430220.
• Uhrberg M, Valiante NM, Shum BP, Shilling HG, Lienert-Weidenbach K, Corliss B, Tyan D, Lanier LL, Parham P (1997). "Human diversity in killer cell inhibitory receptor genes". Immunity. 7 (6): 753–63. doi:10.1016/S1074-7613(00)80394-5. PMID 9430221.
• Rajagopalan S, Long EO (1999). "A human histocompatibility leukocyte antigen (HLA)-G-specific receptor expressed on all natural killer cells". J. Exp. Med. 189 (7): 1093–100. doi:10.1084/jem.189.7.1093. PMC 2193010. PMID 10190900.
• Rajalingam R, Gardiner CM, Canavez F, Vilches C, Parham P (2001). "Identification of seventeen novel KIR variants: fourteen of them from two non-Caucasian donors". Tissue Antigens. 57 (1): 22–31. doi:10.1034/j.1399-0039.2001.057001022.x. PMID 11169255.
• Rajagopalan S, Fu J, Long EO (2001). "Cutting edge: induction of IFN-gamma production but not cytotoxicity by the killer cell Ig-like receptor KIR2DL4 (CD158d) in resting NK cells". J. Immunol. 167 (4): 1877–81. doi:10.4049/jimmunol.167.4.1877. PMID 11489965.
• Witt CS, Whiteway JM, Warren HS, Barden A, Rogers M, Martin A, Beilin L, Christiansen FT (2002). "Alleles of the KIR2DL4 receptor and their lack of association with pre-eclampsia". Eur. J. Immunol. 32 (1): 18–29. doi:10.1002/1521-4141(200201)32:1<18::AID-IMMU18>3.0.CO;2-7. PMID 11754000.
• Yusa S, Catina TL, Campbell KS (2002). "SHP-1- and phosphotyrosine-independent inhibitory signaling by a killer cell Ig-like receptor cytoplasmic domain in human NK cells" (PDF). J. Immunol. 168 (10): 5047–57. doi:10.4049/jimmunol.168.10.5047. PMID 11994457. S2CID 35903264.
• Faure M, Long EO (2002). "KIR2DL4 (CD158d), an NK cell-activating receptor with inhibitory potential". J. Immunol. 168 (12): 6208–14. doi:10.4049/jimmunol.168.12.6208. PMID 12055234.
• Santourlidis S, Trompeter HI, Weinhold S, Eisermann B, Meyer KL, Wernet P, Uhrberg M (2002). "Crucial role of DNA methylation in determination of clonally distributed killer cell Ig-like receptor expression patterns in NK cells". J. Immunol. 169 (8): 4253–61. doi:10.4049/jimmunol.169.8.4253. PMID 12370356.
• Chan HW, Kurago ZB, Stewart CA, Wilson MJ, Martin MP, Mace BE, Carrington M, Trowsdale J, Lutz CT (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, Uhrberg M, Bogdanow M, Seifried E, Seidl C (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.
• Gómez-Lozano N, de Pablo R, Puente S, Vilches C (2003). "Recognition of HLA-G by the NK cell receptor KIR2DL4 is not essential for human reproduction". Eur. J. Immunol. 33 (3): 639–44. doi:10.1002/eji.200323741. PMID 12616484. S2CID 29340524.
• Stewart CA, Van Bergen J, Trowsdale J (2003). "Different and divergent regulation of the KIR2DL4 and KIR3DL1 promoters". J. Immunol. 170 (12): 6073–81. doi:10.4049/jimmunol.170.12.6073. PMID 12794136.
• Williams F, Maxwell LD, Halfpenny IA, Meenagh A, Sleator C, Curran MD, Middleton D (2003). "Multiple copies of KIR 3DL/S1 and KIR 2DL4 genes identified in a number of individuals". Hum. Immunol. 64 (7): 729–32. doi:10.1016/S0198-8859(03)00089-2. PMID 12826375.
• Goodridge JP, Witt CS, Christiansen FT, Warren HS (2003). "KIR2DL4 (CD158d) genotype influences expression and function in NK cells". J. Immunol. 171 (4): 1768–74. doi:10.4049/jimmunol.171.4.1768. PMID 12902476.

External links

• PDBe-KB provides an overview of all the structure information available in the PDB for Human Killer cell immunoglobulin-like receptor 2DL4 (KIR2DL4)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

• Genes on human chromosome 19
• Clusters of differentiation
• Immunoglobulin superfamily