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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KIR2DS1 Gene

protein-coding   GIFtS: 47
GCID: GC19P9I0101

killer cell immunoglobulin-like receptor, two domains, short...

 Explore 37 diseases affiliated with
KIR2DS1 via our new
 Human Malady Compendium 
Biological research products
for KIR2DS1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Killer Cell Immunoglobulin-Like Receptor, Two Domains, Short Cytoplasmic
Tail, 11 2
     KIR2DL1-KIR2DS12
CD158H1 2 3     Killer Cell Immunoglobulin-Like Receptor 2DS12
CD158 Antigen-Like Family Member H2 3     Killer Cell Immunoglobulin-Like Receptor KIRDS12
MHC Class I NK Cell Receptor Eb6 ActI2 3     Killer-Cell Immunoglobulin-Like Receptor2
EB6ActI1     P50.11
EB6ActII1     CD158h Antigen3
CD158a2     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KIR2DS1:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:NT_113949.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for KIR2DS1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIR2DS1


Genomic Location:
Chromosome:19   

Entrez Gene cytogenetic band: 19q13.4   HGNC cytogenetic band: 19q13.4 GRCh37 novel patch

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P9I0101:  view genomic region     (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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KI2S1_HUMAN, Q14954 (See protein sequence)
Recommended Name: Killer cell immunoglobulin-like receptor 2DS1 precursor  
Size: 304 amino acids; 33646 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein
Secondary accessions: O43471

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14954

  • KIR2DS1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055327.1  Reactome Protein details: Q14954
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    Uscn Proteins for KIR2DS1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    KIR2DS1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    KIR2DS1 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q14954

    ProtoNet protein and cluster: Q14954

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

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

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity NAS8627176


    KIR2DS1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune System
    Immune System1.00
    Innate Immune System0.46
    Adaptive Immune System0.59
    2Immune response CD16 signaling in NK cells
    Immune response Role of DAP12 receptors in NK cells0.32
    Immune response_Role of DAP12 receptors in NK cells0.32
    3Natural killer cell mediated cytotoxicity
    Natural killer cell mediated cytotoxicity1.00
    4Signaling by FGFR
    DAP12 interactions0.76
    5Cleavage of Alpha-1-Microglobulin
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell0.30

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for KIR2DS1
        Immune response Role of DAP12 receptors in NK cells


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

    5        Reactome Pathways for KIR2DS1
        DAP12 interactions
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    Adaptive Immune System
    Immune System
    Innate Immune System


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


    KIR2DS1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response NAS8627176
    GO:0050776regulation of immune response TAS--


    KIR2DS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KIR2DS1
    Search CenterWatch for drugs/clinical trials and news about KIR2DS1 / KI2S1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KIR2DS1 gene: 
    NM_014512.1  

    Unigene Cluster for KIR2DS1:

    Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
    Hs.744319  [show with all ESTs]
    Unigene Representative Sequence: NM_014512

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    Inhib. RNA
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    Additional cDNA sequence: 

    AF022046.1 AF135564.1 AF285437.1 AM999888.1 BC096725.1 X89892.1 X98858.1 

    2 DOTS entries:

    DT.95344545  DT.86840863 

    24/93 AceView cDNA sequences (see all 93):

    AF034773 AY223515 AF208054 AY052497 AF285434 AY366242 AY052498 AF285436 
    U71199 BV204357 X97232 AY223513 AF352324 BV204361 BV180828 BI911888 
    AY359817 BV180560 BV204358 BM917014 U24079 AF034772 AY250088 BV180934 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KIR2DS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See KIR2DS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIR2DS1

    SOURCE GeneReport for Unigene cluster: Hs.744319
        SABiosciences Custom PCR Arrays for KIR2DS1
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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for KIR2DS1

    (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)
    About This Section
      --

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIR2DS1 gene
    KIR2DS2  KIR2DS5  KIR2DS4  
    18/54 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    KIR2DS2    KIR2DL1    KIR-K15
    KIR-K36    KIR-K61    KIR-K65    KIR-K78    KIR412    KIR411
    KIR2DS3    KIR2DS5    1060P11.7    KIR2DL3    KIR2DL2    KIR2DS

    KIR2DS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Locus Specific Mutation Databases (LSDB): KIR2DS1
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIR2DS1
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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.)
    About This Section

    KIR2DS1 for disorders           About GeneDecksing

    OMIM gene information: 604952    OMIM disorders: --

    20/37 diseases for KIR2DS1 (see all 37):    About MalaCards
    vogt-koyanagi-harada disease    birdshot chorioretinopathy    tropical spastic paraparesis    graft versus host disease
    spastic paraparesis    guttate psoriasis    familial mediterranean fever    non-hodgkin lymphoma
    anterior uveitis    spontaneous abortion    ankylosing spondylitis    systemic lupus erythematosus
    lupus erythematosus    hodgkin's lymphoma    psoriatic arthritis    spasticity
    uveitis    spondylitis    leptospirosis    spondyloarthropathy

    1 Novoseek 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)
    About This Section

    PubMed articles for KIR2DS1 gene, integrated from 9 sources (see all 118):
    (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. (1996)
    2. Gene for the activating natural killer cell receptor, KIR2DS1, is associated with susceptibility to psoriasis vulgaris. (PubMed id 15310528)1, 4, 9 L/uszczek W....Kusnierczyk P. (2004)
    3. Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population. (PubMed id 15896204)1, 4 Jiang K....Yan L.X. (2005)
    4. Distinct HLA-C/KIR genotype profile associates with guttate psoriasis. (PubMed id 16185272)1, 4 Holm S.J....Sanchez F.O. (2005)
    5. Activating killer cell immunoglobulin-like receptor gene KIR2DS1 is associated with psoriatic arthritis. (PubMed id 16112031)1, 4 Williams F....Middleton D. (2005)
    6. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    7. Genetic polymorphisms of killer cell immunoglobulin-like receptors are associated with susceptibility to psoriasis vulgaris. (PubMed id 15140215)1, 4 Suzuki Y....Muto M. (2004)
    8. Human diversity in killer cell inhibitory receptor genes. (PubMed id 9430221)1, 2 Uhrberg M.... Parham P. (1997)
    9. A role for KIR gene variants other than KIR2DS1 in conferring susceptibility to psoriasis. (PubMed id 16829306)1, 9 Pl/oski R....Malejczyk J. (2006)
    10. Activating killer cell immunoglobulin-like receptors 3DS1 and 2DS1 protect against developing the severe form of recurrent respirato ry papillomatosis. (PubMed id 19861144)1, 9 Bonagura V.R....Rajalingam R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3806 HGNC: 6333 AceView: KIR2DL4 euGenes: HUgn3806 ECgene: KIR2DS1 Kegg: 3806
    H-InvDB: KIR2DS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    Patent Information for KIR2DS1 gene:
    Search GeneIP for patents involving KIR2DS1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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