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KIR2DS3 Gene

protein-coding   GIFtS: 38
GCID: GC19U901482

Killer Cell Immunoglobulin-Like Receptor, Two Domains, Short...

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Killer Cell Immunoglobulin-Like Receptor, Two Domains, Short
Cytoplasmic Tail, 31 2
     MHC Class I NK Cell Receptor2 3
NKAT72 3 5     Killer Cell Immunoglobulin-Like Receptor 2DS32
Natural Killer-Associated Transcript 72 3     Natural Killer Cell Inhibitory Receptor2
NKAT-72 3     

External Ids:    HGNC: 63351   Entrez Gene: 38082   OMIM: 6049545   UniProtKB: Q149523   

Export aliases for KIR2DS3 gene to outside databases

Previous GC identifers: GC19P055480 GC19P9D0099 GC19P9F0099 GC00P9Q0098 GC19P9H0010 GC19P059933 GC19P9H0090 GC19P9I0099 GC19P9I0023 GC19P9I0100 GC19P055235


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KIR2DS3 Gene:
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)

GeneCards Summary for KIR2DS3 Gene:
KIR2DS3 (killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3) is a protein-coding gene. Diseases associated with KIR2DS3 include hematopoietic stem cell transplantation, and microscopic polyangiitis.

UniProtKB/Swiss-Prot: KI2S3_HUMAN, Q14952
Function: Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for KIR2DS3
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIR2DS3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIR2DS3


Genomic Location:
Chromosome:19   

Entrez Gene cytogenetic band: 19q13.4   HGNC cytogenetic band: 19q13.4 alternate reference locus

GeneLoc information about chromosome 19        


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KI2S3_HUMAN, Q14952 (See protein sequence)
Recommended Name: Killer cell immunoglobulin-like receptor 2DS3 precursor  
Size: 304 amino acids; 33717 Da
Secondary accessions: O00644

Explore the universe of human proteins at neXtProt for KIR2DS3: NX_Q14952

Explore proteomics data for KIR2DS3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn67, Asn84, Asn178

  • See KIR2DS3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036445.1  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KIR: Killer cell immunoglobulin-like receptors
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    3 InterPro protein domains:
     IPR003599 Ig_sub
     IPR013783 Ig-like_fold
     IPR013151 Immunoglobulin

    Graphical View of Domain Structure for InterPro Entry Q14952

    ProtoNet protein and cluster: Q14952

    1 Blocks protein domain: IPB003599 Immunoglobulin subtype

    UniProtKB/Swiss-Prot: KI2S3_HUMAN, Q14952
    Similarity: Belongs to the immunoglobulin superfamily
    Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains


    KIR2DS3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KI2S3_HUMAN, Q14952
    Function: Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells

         Genatlas biochemistry entry for KIR2DS3:
    natural killer cell immunoglobulin-like activating receptor for HLA-C antigens,2DS3,with alternatively spliced
    (truncated) forms

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KI2S3_HUMAN, Q14952: Cell membrane; Single-pass type I membrane protein

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS8765026

    KIR2DS3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KIR2DS3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Signaling by FGFR
    DAP12 interactions0.89
    2Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    3Allograft rejection
    Antigen processing and presentation0.36
    4Immune response Role of DAP12 receptors in NK cells
    Natural killer cell mediated cytotoxicity0.31
    5Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Kegg Pathways  (Kegg details for KIR2DS3):
        Antigen processing and presentation
    Natural killer cell mediated cytotoxicity


    KIR2DS3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIR2DS3
    Interactions:

        Search GeneGlobe Interaction Network for KIR2DS3

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006968cellular defense response TAS8765026

    KIR2DS3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KIR2DS3 (KI2S3)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KIR2DS3 gene: 
    NM_012313.1  


    miRNA
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    Selected AceView cDNA sequences (see all 93):

    AY052498 AY223515 AF285434 AY366242 AF208054 AF034773 AY052497 AY223513 
    AF034772 U73394 BV204361 BV204359 X98858 BV204358 NM_002255 AF352324 
    U24079 BI911888 L76668 AF002981 AY366247 AF002979 BV199186 BV180934 

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KIR2DS3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KIR2DS3 Expression
    About this image

    KIR2DS3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIR2DS3 Protein Expression
        Custom PCR Arrays for KIR2DS3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIR2DS3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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      --

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIR2DS3 gene
    Selected SIMAP similar genes for KIR2DS3 using alignment to 7 protein entries:     KI2S3_HUMAN (see all proteins) (see all similar genes):
    KIR2DS5    KIR2DS2S3    KIR-K9    KIR2DS2    KIR2DS1    KIR411
    KIR-K3    KIR-K78    KIR412    KIR2DL3    KIR-K61    KIR-K64
    KIR-K65    KIR2DL2    KIR2DL1    KIR-K15    KIR-K36    KIR2DP1DL1

    KIR2DS3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Human Gene Mutation Database (HGMD): KIR2DS3
    Locus Specific Mutation Databases (LSDB): KIR2DS3

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing KIR2DS3
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604954    OMIM disorders: --

    Selected diseases for KIR2DS3 (see all 45):    About MalaCards
    hematopoietic stem cell transplantation    microscopic polyangiitis    birdshot chorioretinopathy    spondyloarthropathy
    leptospirosis    hepatitis b virus infection    vogt-koyanagi-harada disease    pulmonary tuberculosis
    anterior uveitis    ankylosing spondylitis    tropical spastic paraparesis    spastic paraparesis
    recurrent respiratory papillomatosis    familial mediterranean fever    uveitis    pemphigus foliaceus
    spondylitis    hodgkin's lymphoma    leprosy    non-hodgkin lymphoma


    KIR2DS3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genetic Association Database (GAD): KIR2DS3
    Human Genome Epidemiology (HuGE) Navigator: KIR2DS3 (85 documents)

    Export disorders for KIR2DS3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KIR2DS3 gene, integrated from 10 sources (see all 101):
    (articles sorted by number of sources associating them with KIR2DS3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alternatively spliced forms of human killer inhibitory receptors. (PubMed id 8662091)1, 2, 3 Doehring C.... Colonna M. (Immunogenetics 1996)
    2. KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations. (PubMed id 17498266)1, 4, 9 Flores A.C....Fainboim L. (Tissue Antigens 2007)
    3. Killer immunoglobulin-like receptor ligand HLA-Bw4 protects against multiple sclerosis. (PubMed id 19630074)1, 4, 9 Lorentzen A.R....Harbo H.F. (Ann. Neurol. 2009)
    4. The beneficial impact of missing KIR ligands and absence of donor KIR2DS3 gene on outcome following unrelated hematopoietic SCT for myeloid leukemia in the Chinese population. (PubMed id 20173784)1, 4 Wu G.Q....Huang H. (Bone Marrow Transplant. 2010)
    5. HLA-DQA1*0505 sharing and killer immunoglobulin-like receptors in sub fertile couples: report from the 15th International Histocompatibility Workshop. (PubMed id 20210919)1, 4 Varla-Leftherioti M....Spyropoulou-Vlachou M. (Tissue Antigens 2010)
    6. Association of killer cell immunoglobulin-like receptor 2DL5 with systemic lupus erythematosus and accompanying infections. (PubMed id 20371502)1, 4 Kimoto Y....Harada M. (Rheumatology (Oxford) 2010)
    7. Immunogenetic characteristics of patients with autoimmune gastritis. (PubMed id 20082482)1, 4 Oksanen A.M....Partanen J.A. (World J. Gastroenterol. 2010)
    8. Inhibitory KIR and specific HLA-C gene combinations confer susceptibility to or protection against chronic hepatitis B. (PubMed id 20643584)1, 4 Gao X....Zhao Y. (Clin. Immunol. 2010)
    9. Association of KIR2DS1 and KIR2DS3 with fatal outcome in Ebola virus infection. (PubMed id 20878400)1, 4 Wauquier N....Vieillard V. (Immunogenetics 2010)
    10. Influence of HLA class I and HLA-KIR compound genotypes on HIV-2 infection and markers of disease progression in a Manjako community in West Africa. (PubMed id 20519398)1, 4 Yindom L.M....Carrington M. (J. Virol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3808 HGNC: 6335 AceView: KIR2DL4 euGenes: HUgn3808 ECgene: KIR2DS3 Kegg: 3808
    H-InvDB: KIR2DS3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KIR2DS3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KIR2DS3 gene:
    Search GeneIP for patents involving KIR2DS3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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