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KIR2DL5A Gene

protein-coding   GIFtS: 41
GCID: GC19P9Q0450

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

  See KIR2DL5A-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, Long Cytoplasmic
Tail, 5A1 2
     Killer Cell Immunoglobulin-Like Receptor 2DL5A2
KIR2DL52 3 5     Killer Cell Immunoglobulin-Like Receptor KIR2DL5A2
CD158F2 3     Killer Cell Immunoglobulin-Like Receptor, Two Domains, Long Cytoplasmic
Tail, 52
KIR2DL5.12     Killer-Cell Ig-Like Receptor2
KIR2DL5.32     CD158F13
KIR2DL5B2     CD158f1 Antigen3

External Ids:    HGNC: 163451   Entrez Gene: 572922   OMIM: 6053055   UniProtKB: Q8N1093   

Export aliases for KIR2DL5A gene to outside databases

Previous GC identifers: GC19P9H0088 GC19P9I0086 GC19P9I0011 GC19P9I0013 GC19P9I0015 GC19P9I0017 GC19P9I0019


(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 KIR2DL5A 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 KIR2DL5A Gene:
KIR2DL5A (killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A) is a protein-coding gene. Diseases associated with KIR2DL5A include recurrent respiratory papillomatosis, and hematopoietic stem cell transplantation.

UniProtKB/Swiss-Prot: KI2LA_HUMAN, Q8N109
Function: Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus
preventing cell lysis




(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 KIR2DL5A
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIR2DL5A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIR2DL5A


Genomic Location:
Chromosome:19   

Entrez Gene cytogenetic band: 19p13.3   HGNC cytogenetic band: 19q13.4 alternate reference locus

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P9Q0450:       (about GC identifiers)

Start:
450,949 bp from start of contig NW_003571055      End:
460,504 bp from start of contig NW_003571055
Size:
9,556 bases      Orientation:
plus strand

1 alternative location:
Chr19+,NT_113949 86,691-96,155     

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KI2LA_HUMAN, Q8N109 (See protein sequence)
Recommended Name: Killer cell immunoglobulin-like receptor 2DL5A precursor  
Size: 375 amino acids; 40678 Da

Explore the universe of human proteins at neXtProt for KIR2DL5A: NX_Q8N109

Post-translational modifications: 

  • Glycosylation2 at Asn139, Asn173, Asn218
  • REFSEQ proteins: NP_065396.1  

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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:
    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 Q8N109

    ProtoNet protein and cluster: Q8N109

    UniProtKB/Swiss-Prot: KI2LA_HUMAN, Q8N109
    Similarity: Belongs to the immunoglobulin superfamily
    Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains


    Find genes that share domains with KIR2DL5A           About GenesLikeMe


    (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, 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: KI2LA_HUMAN, Q8N109
    Function: Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus
    preventing cell lysis

    Phenotypes:
         1 GenomeRNAi human phenotype for KIR2DL5A:

     Cell cycle / mitosis defect 

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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
    KI2LA_HUMAN, Q8N109: 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 IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with KIR2DL5A           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 KIR2DL5A 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
    Graft-versus-host disease0.65
    Antigen processing and presentation0.36


    Find genes that share SuperPaths with KIR2DL5A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for KIR2DL5A
        Immune response Role of DAP12 receptors in NK cells


    3 Kegg Pathways  (Kegg details for KIR2DL5A):
        Antigen processing and presentation
    Natural killer cell mediated cytotoxicity
    Graft-versus-host disease

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    Interactions:

        Search GeneGlobe Interaction Network for KIR2DL5A

    2 Interacting proteins for KIR2DL5A (Q8N1093) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN11Q061243I2D: score=1 
    PTPN6P293503I2D: score=1 
    About this table

    (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 KIR2DL5A (KI2LA)

    1 Novoseek inferred chemical compound relationship for KIR2DL5A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 16.3 4 15187115 (1), 17371997 (1)



    Find genes that share compounds with KIR2DL5A           About GenesLikeMe



    (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 KIR2DL5A gene: 
    NM_020535.3  

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    7 AceView cDNA sequences:

    AF204903 NM_020535 AF271608 BV172480 AF271607 AF217487 AJ544587 

    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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    KIR2DL5A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCACATAAC
    KIR2DL5A Expression
    About this image

    KIR2DL5A Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIR2DL5A

    (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 KIR2DL5A gene
    Selected SIMAP similar genes for KIR2DL5A using alignment to 2 protein entries:     KI2LA_HUMAN (see all proteins) (see all similar genes):
    KIR2DL5B    KIR2DLX    KIR411    KIR2DL4    KIR-G1    KIR221
    KIR-G2    p140    KIR2DL2    KIR2DL3    KIR2DP1DL1    KIR2DL1
    KIR2DS2S3    NKAT2a-delta-Ig2    KIR2DS2    KIR2DS1    KIR2DS3    KIR2DS5

    Find genes that share paralogs with KIR2DL5A           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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    Human Gene Mutation Database (HGMD): KIR2DL5A
    Locus Specific Mutation Databases (LSDB): KIR2DL5A

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605305    OMIM disorders: --

    8 diseases for KIR2DL5A:    
    About MalaCards
    recurrent respiratory papillomatosis    hematopoietic stem cell transplantation    spondyloarthropathy    leptospirosis
    hepatitis b virus infection    anterior uveitis    ankylosing spondylitis    non-hodgkin lymphoma


    Find genes that share disorders with KIR2DL5A           About GenesLikeMe

    Genetic Association Database (GAD): KIR2DL5A
    Human Genome Epidemiology (HuGE) Navigator: KIR2DL5A (85 documents)

    Export disorders for KIR2DL5A 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 KIR2DL5A gene, integrated from 10 sources (see all 97):
    (articles sorted by number of sources associating them with KIR2DL5A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Some human KIR haplotypes contain two KIR2DL5 genes: KIR2DL5A and KIR2DL5B. (PubMed id 12185535)1, 2, 3, 9 Gomez-Lozano N.... Vilches C. (Immunogenetics 2002)
    2. Activating KIR genes are associated with ankylosing spondylitis in Asian populations. (PubMed id 18638658)1, 4, 9 DA-az-PeA+a R....LA^pez-Larrea C. (Hum. Immunol. 2008)
    3. 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)
    4. Natural killer cell receptor and HLA-C gene polymorphisms among patients with hepatitis C: a comparison between sustained virological responders and non-responders. (PubMed id 20456039)1, 4 Carneiro V.L....Lyra A.C. (Liver Int. 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: 57292 HGNC: 16345 AceView: KIR2DL5 euGenes: HUgn57292 ECgene: KIR2DL5A Kegg: 57292
    H-InvDB: KIR2DL5A

    (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 KIR2DL5A 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 KIR2DL5A gene:
    Search GeneIP for patents involving KIR2DL5A

    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, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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