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KIR2DS2 Gene

protein-coding   GIFtS: 45
GCID: GC19P9W0464

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

  See KIR2DS2-related diseases
at  

(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, 21 2
     183ActI2
NKAT52 3 5     CD158b2
Natural Killer-Associated Transcript 52 3     cl-492
CD158J2 3     Killer Cell Immunoglobulin-Like Receptor 2DS22
NKAT-52 3     Killer-Cell Ig-Like Receptor2
CD158 Antigen-Like Family Member J2 3     Killer-Cell Immunoglobulin-Like Receptor Two Domains Short Tail 2 Protein2
MHC Class I NK Cell Receptor2 3     Natural Killer Associated Transcript 52
NK Receptor 183 ActI2 3     Natural Killer Cell Inhibitory Receptor2
P58 Natural Killer Cell Receptor Clone CL-492 3     P58 Killer Cell Inhibitory Receptor KIR-K7a2
P58 NK Receptor CL-492 3     P58 KIR2
1060P11.9.22     CD158j Antigen3

External Ids:    HGNC: 63341   Entrez Gene: 1001322852   OMIM: 6049535   UniProtKB: P436313   

Export aliases for KIR2DS2 gene to outside databases

Previous GC identifers: GC19P055513 GC19P9D0131 GC19P9F0131 GC00P9Q0131 GC19P9H0009 GC19P9H0131 GC19P059936 GC19P9I0131 GC19U900901 GC19P055237


(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 KIR2DS2 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 KIR2DS2 Gene:
KIR2DS2 (killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2) is a protein-coding gene. Diseases associated with KIR2DS2 include birdshot chorioretinopathy, and cytomegalovirus infection. GO annotations related to this gene include transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot: KI2S2_HUMAN, P43631
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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RefSeq DNA sequence at NCBI GenBank:
NT_187640.1  NT_187668.1  NT_187686.1  NT_187636.1  NT_187675.1  
Regulatory elements:
   Search for regulatory transcription factor binding sites for KIR2DS2
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIR2DS2


Genomic Location:
Chromosome:19   

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P9W0464:       (about GC identifiers)

Start:
464,497 bp from start of contig NW_003571061      End:
478,866 bp from start of contig NW_003571061
Size:
14,370 bases      Orientation:
plus strand

1 alternative location:
Chr19+,NT_113949 131,449-145,745     

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KI2S2_HUMAN, P43631 (See protein sequence)
Recommended Name: Killer cell immunoglobulin-like receptor 2DS2 precursor  
Size: 304 amino acids; 33502 Da
Sequence caution: Sequence=AAC50338.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for KIR2DS2:
1M4K (3D)    
Secondary accessions: Q14955 Q6H2G9

Explore the universe of human proteins at neXtProt for KIR2DS2: NX_P43631

Post-translational modifications: 

  • Glycosylation2 at Asn84, Asn178, Asn211
  • Modification sites at PhosphoSitePlus
  • REFSEQ proteins: NP_036444.1  Reactome Protein details: P43631

    KIR2DS2 Human Recombinant Protein Products:

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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:
    CD: CD molecules
    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 P43631

    ProtoNet protein and cluster: P43631

    1 Blocks protein domain: IPB003599 Immunoglobulin subtype

    UniProtKB/Swiss-Prot: KI2S2_HUMAN, P43631
    Similarity: Belongs to the immunoglobulin superfamily
    Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains


    Find genes that share domains with KIR2DS2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KI2S2_HUMAN, P43631
    Function: Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells

         Genatlas biochemistry entry for KIR2DS2:
    natural killer cell immunoglobulin-like activating receptor for HLA-C antigens,2DS2,with alternatively spliced
    (truncated) forms

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity NAS8627176
         
    Find genes that share ontologies with KIR2DS2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for KIR2DS2

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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
    KI2S2_HUMAN, P43631: Cell membrane; Single-pass type I membrane protein

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane NAS8627176

    Find genes that share ontologies with KIR2DS2           About GenesLikeMe


    (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 KIR2DS2 About    
    See pathways by source

    SuperPathContained pathways About
    1Immune response Role of DAP12 receptors in NK cells
    Immune response Role of DAP12 receptors in NK cells0.33
    Natural killer cell mediated cytotoxicity0.31
    2Allograft rejection
    Antigen processing and presentation0.36


    Find genes that share SuperPaths with KIR2DS2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for KIR2DS2
        Immune response Role of DAP12 receptors in NK cells

    2 Reactome Pathways for KIR2DS2
        Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    DAP12 interactions


    2 Kegg Pathways  (Kegg details for KIR2DS2):
        Antigen processing and presentation
    Natural killer cell mediated cytotoxicity

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIR2DS2
    Interactions:

        GeneGlobe Interaction Network for KIR2DS2

    2 Interacting proteins for KIR2DS2 (P436313) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HLA-CP103213I2D: score=2 
    TYROBPO439143I2D: score=2 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response NAS8627176
    GO:0007165signal transduction NAS8627176
    GO:0045087innate immune response TAS--
    GO:0050776regulation of immune response TAS--

    Find genes that share ontologies with KIR2DS2           About GenesLikeMe



    (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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for KIR2DS2 (KI2S2)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KIR2DS2 gene: 
    NM_012312.3  

    Unigene Cluster for KIR2DS2:

    Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
    Hs.512572
    Unigene Representative Sequence: NM_012312
    miRNA
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    Additional mRNA sequence: 

    AF074087.1 AF285438.1 AJ002102.1 AJ002103.1 AJ002104.1 AJ002105.1 AM409094.1 AY366243.1 
    AY366244.1 BC108917.1 BC119631.1 BC119632.1 BC125146.1 BC126856.1 FR750994.1 L41347.1 
    L76667.1 L76668.1 U24079.1 X89893.1 

    4 DOTS entries:

    DT.121450394  DT.91758234  DT.95344553  DT.40115449 

    GeneLoc Exon Structure


    (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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    KIR2DS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KIR2DS2 Expression
    About this image

    KIR2DS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    SOURCE GeneReport for Unigene cluster: Hs.512572
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    In Situ
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    (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 KIR2DS2 gene
    Selected SIMAP similar genes for KIR2DS2 using alignment to 10 protein entries:     KI2S2_HUMAN (see all proteins) (see all similar genes):
    KIR2DS2S3    KIR-K36    KIR412    KIR2DS1    KIR-K3    KIR-K65
    KIR-K78    KIR-K9    KIR2DL3    p58    KIR-K61    KIR2DL2
    KIR2DS3    KIR2DS5    KIR-K15    KIR-K64    KIR2DS4    KIR2DS

    Find genes that share paralogs with KIR2DS2           About GenesLikeMe



    (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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    4 SNPs for KIR2DS2    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38103431,2,4
    ----see VAR_0594202 mis40--------
    rs22620651,2,4
    ----see VAR_0200902 mis40--------
    rs10633261,2,4
    ----see VAR_0594222 mis40--------
    rs6735681,2,4
    ----see VAR_0594212 mis40--------

    HapMap Linkage Disequilibrium report for KIR2DS2 (464497 - 478866 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KIR2DS2: --
    Locus Specific Mutation Databases (LSDB): KIR2DS2

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing KIR2DS2
    DNA2.0 Custom Variant and Variant Library Synthesis for KIR2DS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604953    OMIM disorders: --

    7 diseases for KIR2DS2:    
    About MalaCards
    birdshot chorioretinopathy    cytomegalovirus infection    hepatitis b virus infection    ankylosing spondylitis
    type 1 diabetes mellitus    non-hodgkin lymphoma    chronic myeloid leukemia


    Find genes that share disorders with KIR2DS2           About GenesLikeMe

    Genetic Association Database (GAD): KIR2DS2
    Human Genome Epidemiology (HuGE) Navigator: KIR2DS2 (92 documents)

    Export disorders for KIR2DS2 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 KIR2DS2 gene, integrated from 10 sources (see all 130):
    (articles sorted by number of sources associating them with KIR2DS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular clones of the p58 NK cell receptor reveal immunoglobulin- related molecules with diversity in both the extra- and intracellular domains. (PubMed id 7749980)1, 2, 3 Wagtmann N.... Long E.O. (Immunity 1995)
    2. Cloning of immunoglobulin-superfamily members associated with HLA-C and HLA-B recognition by human natural killer cells. (PubMed id 7716543)1, 2, 3 Colonna M. and Samaridis J. (Science 1995)
    3. 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)
    4. Immunogenetic characteristics of patients with autoimmune gastritis. (PubMed id 20082482)1, 4 Oksanen A.M....Partanen J.A. (World J. Gastroenterol. 2010)
    5. Association of KIR2DS1 and KIR2DS3 with fatal outcome in Ebola virus infection. (PubMed id 20878400)1, 4 Wauquier N....Vieillard V. (Immunogenetics 2010)
    6. 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)
    7. Killer cell immunoglobulin-like receptors in HLA-B27-associated acute anterior uveitis, with and without axial spondyloarthropathy. (PubMed id 19850842)1, 4 Levinson R.D....Rajalingam R. (amp 2010)
    8. Effect of killer immunoglobulin-like receptors in the response to combined treatment in patients with chronic hepatitis C virus infection. (PubMed id 19846535)1, 4 Vidal-CastiA+eira J.R....LA^pez-Larrea C. (J. Virol. 2010)
    9. Killer cell immunoglobulin-like receptor gene polymorphisms in patients with leukemia: possible association with susceptibility to the disease. (PubMed id 19450876)1, 4 Zhang Y....Qi J. (Leuk. Res. 2010)
    10. Killer cell immunoglobulin-like receptor gene-cluster 3DS1-2DL5-2DS1-2DS5 predisposes susceptibility to Vogt-Koyanagi-Harada syndrome in Japanese individuals. (PubMed id 19897003)1, 4 Levinson R.D....Rajalingam R. (Hum. Immunol. 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: 100132285 HGNC: 6334 euGenes: HUgn100132285 ECgene: KIR2DS2
    Kegg: 100132285 H-InvDB: KIR2DS2

    (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 KIR2DS2 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 KIR2DS2 gene:
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