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    KIR2DL1 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 [ Homo sapiens (human) ]

    Gene ID: 3802, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KIR2DL1provided by HGNC
    Official Full Name
    killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1provided by HGNC
    Primary source
    HGNC:HGNC:6329
    See related
    Ensembl:ENSG00000125498 MIM:604936; AllianceGenome:HGNC:6329
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NKAT; NKAT1; p58.1; CD158A; KIR221; NKAT-1; KIR-K64; KIR2DL3
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See KIR2DL1 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54769793..54784322)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57864064..57878595)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55281245..55295774)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:55275257-55276456 Neighboring gene uncharacterized LOC101928804 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains pseudogene 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [Qualitative analysis of accented CD158a receptor expression in NK-lymphocytes in women with reproductive failures]. Dons'koĭ BV, et al. Lik Sprava, 2013 Jan-Feb. PMID 23951916
    2. [Cloning and sequencing of KIR2DL1 framework gene cDNA and identification of a novel allele]. Sun G, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2016 Oct. PMID 27577226
    3. Functional advantage of educated KIR2DL1(+) natural killer cells for anti-HIV-1 antibody-dependent activation. Gooneratne SL, et al. Clin Exp Immunol, 2016 Apr. PMID 26647083, Free PMC Article
    4. Influence of Differently Licensed KIR2DL1-Positive Natural Killer Cells in Transplant Recipients with Acute Leukemia: A Japanese National Registry Study. Arima N, et al. Biol Blood Marrow Transplant, 2016 Mar. PMID 26456260
    5. Loss and Gain of Natural Killer Cell Receptor Function in an African Hunter-Gatherer Population. Hilton HG, et al. PLoS Genet, 2015 Aug. PMID 26292085, Free PMC Article

    See all (170) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KIR2DL1 gene is a surrogate marker of protection against infection-related hospitalization among HIV-1 unexposed versus exposed uninfected infants in Cameroon.
      Title: KIR2DL1 gene is a surrogate marker of protection against infection-related hospitalization among HIV-1 unexposed versus exposed uninfected infants in Cameroon.
    2. Activating KIR/HLA-I combinations as a risk factor of adult B-ALL.
      Title: Activating KIR/HLA-I combinations as a risk factor of adult B-ALL.
    3. KIR2DS1 and KIR2DL1-C245 Dominantly Repress NK Cell Degranulation Triggered by Monoclonal or Bispecific Antibodies, whereas Education by Uptuning Inhibitory Killer Ig-related Receptors Exerts No Advantage in Ab-dependent Cellular Cytotoxicity.
      Title: KIR2DS1 and KIR2DL1-C245 Dominantly Repress NK Cell Degranulation Triggered by Monoclonal or Bispecific Antibodies, whereas Education by Uptuning Inhibitory Killer Ig-related Receptors Exerts No Advantage in Ab-dependent Cellular Cytotoxicity.
    4. The KIR2DL1 intermediate upstream element participates in gene activation.
      Title: The KIR2DL1 intermediate upstream element participates in gene activation.
    5. Uterine NK cells underexpress KIR2DL1/S1 and LILRB1 in reproductive failure.
      Title: Uterine NK cells underexpress KIR2DL1/S1 and LILRB1 in reproductive failure.
    6. Lack of association of KIR2DL1-R(245) and KIR2DL1-C(245) with HIV-1 control in black South Africans with HLA-C2.
      Title: Lack of association of KIR2DL1-R(245) and KIR2DL1-C(245) with HIV-1 control in black South Africans with HLA-C2.
    7. Single Nucleotide Polymorphism in KIR2DL1 Is Associated With HLA-C Expression in Global Populations.
      Title: Single Nucleotide Polymorphism in KIR2DL1 Is Associated With HLA-C Expression in Global Populations.
    8. The strong interaction of KIR2DL1 and HLA-C2 ligands seems to promote large and stable expansion of adaptive NK cells in Human Cytomegalovirus (HCMV) infection.
      Title: KIR Polymorphism Modulates the Size of the Adaptive NK Cell Pool in Human Cytomegalovirus-Infected Individuals.
    9. More NK cells educated through KIR2DL1 and KIR3DL1, but not KIR2DL3, responded to antibody-dependent (AD) NK cell activation than their uneducated counterparts.
      Title: Differential contribution of education through KIR2DL1, KIR2DL3, and KIR3DL1 to antibody-dependent (AD) NK cell activation and ADCC.
    10. matching of KIR2DL1, 2DS1, and 2DS2 in donors with their HLA-C ligands in recipients is associated with increased GvHD, and holds potential for selection of HSCT donors.
      Title: Prognostic role of KIR genes and HLA-C after hematopoietic stem cell transplantation in a patient cohort with acute myeloid leukemia from a consanguineous community.
    Submit: New GeneRIF Correction See all GeneRIFs (64)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in immune response-regulating signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in natural killer cell inhibitory signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    killer cell immunoglobulin-like receptor 2DL1
    Names
    CD158 antigen-like family member A
    KIR2DL protein
    KIR2DL1/3DL2
    MHC class I NK cell receptor
    killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
    killer inhibitory receptor 2-2-1
    natural killer-associated transcript 1
    p58 NK cell inhibitory receptor NKR-K6
    p58 NK receptor CL-42/47.11
    p58 killer cell inhibitory receptor KIR-K64
    p58 natural killer cell receptor clones CL-42/47.11
    p58.1 MHC class-I-specific NK receptor

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_005994.1 

      Range
      90267..104787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    2. NG_051369.1 RefSeqGene

      Range
      5586..20115
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014218.3 → NP_055033.2  killer cell immunoglobulin-like receptor 2DL1 precursor

      See identical proteins and their annotated locations for NP_055033.2

      Status: REVIEWED

      Source sequence(s)
      AC011501, AC245128, AY366237, AY366240
      Consensus CDS
      CCDS12904.1
      UniProtKB/Swiss-Prot
      O43470, P43626, Q32WE6, Q6H2H3, Q6IST4
      UniProtKB/TrEMBL
      A0A0C5BZP0, A0A0C5C369, A0A0G2JQ06, A0A0Y0R0P1, A0A0Y0RMI5, A0A5J6VPP5, A0A7D5CA51, A0A7U3JYS5, A0A7U3JYW3, E7BWR8, Q6H2H1
      Related
      ENSP00000336769.5, ENST00000336077.11
      Conserved Domains (3) summary
      cd00096
      Location:129 → 133
      Ig; Ig strand A [structural motif]
      cd05711
      Location:28 → 122
      IgC2_D2_LILR_KIR_like; Second immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors, Natural killer inhibitory receptors (KIRs) and similar domains; member of Immunoglobulin Constant-2 set of IgSF domains
      cl11960
      Location:128 → 216
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      54769793..54784322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107300.1 Reference GRCh38.p14 PATCHES

      Range
      71426..85955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107301.1 Reference GRCh38.p14 PATCHES

      Range
      71434..85962
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107302.1 Reference GRCh38.p14 PATCHES

      Range
      71403..85930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107303.1 Reference GRCh38.p14 PATCHES

      Range
      71371..85919
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107304.1 Reference GRCh38.p14 PATCHES

      Range
      71403..85932
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107305.1 Reference GRCh38.p14 PATCHES

      Range
      71390..85917
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107306.1 Reference GRCh38.p14 PATCHES

      Range
      71206..85742
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107307.1 Reference GRCh38.p14 PATCHES

      Range
      71360..85890
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107309.1 Reference GRCh38.p14 PATCHES

      Range
      71400..85929
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      675454..689981
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      752629..785797
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331236.1 → XP_054187211.1  killer cell immunoglobulin-like receptor 2DL1 isoform X1

      UniProtKB/TrEMBL
      B1N8M6

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      674127..688656
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      752359..766888
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_10

    Genomic

    1. NT_187636.1 Reference GRCh38.p14 ALT_REF_LOCI_10

      Range
      118422..132958 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_11

    Genomic

    1. NT_187637.1 Reference GRCh38.p14 ALT_REF_LOCI_11

      Range
      84517..99046 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_13

    Genomic

    1. NT_187639.1 Reference GRCh38.p14 ALT_REF_LOCI_13

      Range
      85086..99615 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_14

    Genomic

    1. NT_187640.1 Reference GRCh38.p14 ALT_REF_LOCI_14

      Range
      73882..88419 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_15

    Genomic

    1. NT_187641.1 Reference GRCh38.p14 ALT_REF_LOCI_15

      Range
      124103..138632 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_17

    Genomic

    1. NT_187643.1 Reference GRCh38.p14 ALT_REF_LOCI_17

      Range
      84777..99306 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_19

    Genomic

    1. NT_187645.1 Reference GRCh38.p14 ALT_REF_LOCI_19

      Range
      84793..99322 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_20

    Genomic

    1. NT_187668.1 Reference GRCh38.p14 ALT_REF_LOCI_20

      Range
      74679..89204 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_21

    Genomic

    1. NT_187669.1 Reference GRCh38.p14 ALT_REF_LOCI_21

      Range
      84777..99306 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_23

    Genomic

    1. NT_187671.1 Reference GRCh38.p14 ALT_REF_LOCI_23

      Range
      48706..63234
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_24

    Genomic

    1. NT_187672.1 Reference GRCh38.p14 ALT_REF_LOCI_24

      Range
      71371..85900
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_25

    Genomic

    1. NT_187673.1 Reference GRCh38.p14 ALT_REF_LOCI_25

      Range
      84756..99285 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_26

    Genomic

    1. NT_187674.1 Reference GRCh38.p14 ALT_REF_LOCI_26

      Range
      56633..71160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_27

    Genomic

    1. NT_187675.1 Reference GRCh38.p14 ALT_REF_LOCI_27

      Range
      112792..127328
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_28

    Genomic

    1. NT_187676.1 Reference GRCh38.p14 ALT_REF_LOCI_28

      Range
      45707..60236
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_30

    Genomic

    1. NT_187683.1 Reference GRCh38.p14 ALT_REF_LOCI_30

      Range
      43970..58498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_31

    Genomic

    1. NT_187684.1 Reference GRCh38.p14 ALT_REF_LOCI_31

      Range
      86264..100798 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_32

    Genomic

    1. NT_187685.1 Reference GRCh38.p14 ALT_REF_LOCI_32

      Range
      84269..98798 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_33

    Genomic

    1. NT_187686.1 Reference GRCh38.p14 ALT_REF_LOCI_33

      Range
      85118..99654 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_34

    Genomic

    1. NT_187687.1 Reference GRCh38.p14 ALT_REF_LOCI_34

      Range
      84581..99107 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57864064..57878595
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43626.2 GenPept UniProtKB/Swiss-Prot:P43626

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