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KIR2DS1 Gene

protein-coding   GIFtS: 45
GCID: GC19P9I0101

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

  See KIR2DS1-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, 11 2
     KIR2DL5B2
CD158H2 3     Killer Cell Immunoglobulin-Like Receptor 2DS12
CD158 Antigen-Like Family Member H2 3     Killer Cell Immunoglobulin-Like Receptor KIR2DL5B2
MHC Class I NK Cell Receptor Eb6 ActI2 3     Killer Cell Immunoglobulin-Like Receptor KIRDS12
CD158a2     Killer Cell Immunoglobulin-Like Receptor Two Domains Long Cytoplasmic Tail
5A2
KIR2DL1-KIR2DS12     Killer-Cell Immunoglobulin-Like Receptor2
KIR2DL52     p50.12
KIR2DL5A2     CD158h Antigen3

External Ids:    HGNC: 63331   Entrez Gene: 38062   OMIM: 6049525   UniProtKB: Q149543   

Export aliases for KIR2DS1 gene to outside databases

Previous GC identifers: GC19U990053 GC19P9D0115 GC19P9F0116 GC00P9Q0116 GC19P9H0008 GC19P059932 GC19P9I0115 GC19P9I0024 GC19P055281


(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 KIR2DS1 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 KIR2DS1 Gene:
KIR2DS1 (killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1) is a protein-coding gene. Diseases associated with KIR2DS1 include guttate psoriasis, and birdshot chorioretinopathy. GO annotations related to this gene include transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot: KI2S1_HUMAN, Q14954
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 KIR2DS1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIR2DS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIR2DS1


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 GC19P9I0101:       (about GC identifiers)

Start:
115,099 bp from start of contig NT_113949      End:
129,113 bp from start of contig NT_113949
Size:
14,015 bases      Orientation:
plus strand

(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: KI2S1_HUMAN, Q14954 (See protein sequence)
Recommended Name: Killer cell immunoglobulin-like receptor 2DS1 precursor  
Size: 304 amino acids; 33646 Da
Secondary accessions: O43471

Explore the universe of human proteins at neXtProt for KIR2DS1: NX_Q14954

Post-translational modifications: 

  • Glycosylation2 at Asn67, Asn84, Asn144, Asn178
  • Modification sites at PhosphoSitePlus
  • REFSEQ proteins: NP_055327.1  Reactome Protein details: Q14954

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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 Q14954

    ProtoNet protein and cluster: Q14954

    1 Blocks protein domain: IPB003599 Immunoglobulin subtype

    UniProtKB/Swiss-Prot: KI2S1_HUMAN, Q14954
    Similarity: Belongs to the immunoglobulin superfamily
    Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains


    Find genes that share domains with KIR2DS1           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: KI2S1_HUMAN, Q14954
    Function: Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells

         Genatlas biochemistry entry for KIR2DS1:
    natural killer cell immunoglobulin-like activating receptor for HLA-C antigens,2DS1

         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 KIR2DS1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for KIR2DS1

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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
    KI2S1_HUMAN, Q14954: 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 KIR2DS1           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 KIR2DS1 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
    2Signaling by FGFR
    DAP12 interactions0.89
    3Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    4Allograft rejection
    Antigen processing and presentation0.36
    5Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell


    Find genes that share SuperPaths with KIR2DS1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for KIR2DS1
        Immune response Role of DAP12 receptors in NK cells

    2 Reactome Pathways for KIR2DS1
        Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    DAP12 interactions


    2 Kegg Pathways  (Kegg details for KIR2DS1):
        Antigen processing and presentation
    Natural killer cell mediated cytotoxicity

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIR2DS1
    Interactions:

        Search GeneGlobe Interaction Network for KIR2DS1

    1 Interacting protein for KIR2DS1 (Q149543) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HLA-CP103213I2D: score=1 
    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 KIR2DS1           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KIR2DS1 (KI2S1)



    (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 KIR2DS1 gene: 
    NM_014512.1  

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    Selected AceView cDNA sequences (see all 93):

    AF208054 AY223515 AF285434 AY052498 AY052497 AF034773 AY366242 BQ052981 
    BM918119 AJ417558 BX952500 BV204357 X97229 X99480 AY366247 AY366248 
    BV206442 BV199098 BV180829 BV180828 AF285436 BV203728 BC041611 BV204359 

    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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    KIR2DS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KIR2DS1 Expression
    About this image

    KIR2DS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
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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 KIR2DS1 gene
    Selected SIMAP similar genes for KIR2DS1 using alignment to 6 protein entries:     KI2S1_HUMAN (see all proteins) (see all similar genes):
    KIR-K3    KIR-K64    KIR-K9    KIR2DP1DL1    KIR2DS2    KIR2DL1
    KIR2DS2S3    KIR-K15    KIR-K36    KIR-K61    KIR-K65    KIR-K78
    KIR412    KIR411    KIR2DS3    KIR2DS5    KIR2DL3    KIR2DS

    Find genes that share paralogs with KIR2DS1           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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    2 SNPs for KIR2DS1    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs6878851,2,4
    ----see VAR_0594192 mis40--------
    rs6874851,2,4
    ----see VAR_0103182 mis40--------

    HapMap Linkage Disequilibrium report for KIR2DS1 (115099 - 129113 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KIR2DS1: --
    Locus Specific Mutation Databases (LSDB): KIR2DS1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604952    OMIM disorders: --

    8 diseases for KIR2DS1:    
    About MalaCards
    guttate psoriasis    birdshot chorioretinopathy    hematopoietic stem cell transplantation    hepatitis b virus infection
    ankylosing spondylitis    psoriatic arthritis    chronic myeloid leukemia    non-hodgkin lymphoma


    Find genes that share disorders with KIR2DS1           About GenesLikeMe

    1 Novoseek inferred disease relationship for KIR2DS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    psoriasis 33.9 5 16829306 (3), 15310528 (2)

    Genetic Association Database (GAD): KIR2DS1
    Human Genome Epidemiology (HuGE) Navigator: KIR2DS1 (92 documents)

    Export disorders for KIR2DS1 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 KIR2DS1 gene, integrated from 10 sources (see all 126):
    (articles sorted by number of sources associating them with KIR2DS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human leukocyte antigen (HLA)-C-specific 'activatory' or 'inhibitory' natural killer cell receptors display highly homologous extracellular domains but differ in their transmembrane and intracytoplasmic portions. (PubMed id 8627176)1, 2, 3 Biassoni R.... Moretta L. (J. Exp. Med. 1996)
    2. A role for KIR gene variants other than KIR2DS1 in conferring susceptibility to psoriasis. (PubMed id 16829306)1, 4, 9 PA8oski R....Malejczyk J. (Hum. Immunol. 2006)
    3. Gene for the activating natural killer cell receptor, KIR2DS1, is associated with susceptibility to psoriasis vulgaris. (PubMed id 15310528)1, 4, 9 A8uszczek W....KuA9nierczyk P. (Hum. Immunol. 2004)
    4. Activating killer cell immunoglobulin-like receptors 3DS1 and 2DS1 protect against developing the severe form of recurrent respiratory papillomatosis. (PubMed id 19861144)1, 4, 9 Bonagura V.R....Rajalingam R. (Hum. Immunol. 2010)
    5. Increased activating killer immunoglobulin-like receptor genes and decreased specific HLA-C alleles in couples with recurrent spontaneous abortion. (PubMed id 17617375)1, 4, 9 Wang S....Chen Z.J. (Biochem. Biophys. Res. Commun. 2007)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. Immunogenetic characteristics of patients with autoimmune gastritis. (PubMed id 20082482)1, 4 Oksanen A.M....Partanen J.A. (World J. Gastroenterol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 3806 HGNC: 6333 AceView: KIR2DL4 euGenes: HUgn3806 ECgene: KIR2DS1 Kegg: 3806
    H-InvDB: KIR2DS1

    (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 KIR2DS1 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 KIR2DS1 gene:
    Search GeneIP for patents involving KIR2DS1

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    (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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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