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    KIR2DL2 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 [ Homo sapiens (human) ]

    Gene ID: 3803, updated on 22-Apr-2024

    Summary

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    Official Symbol
    KIR2DL2provided by HGNC
    Official Full Name
    killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2provided by HGNC
    Primary source
    HGNC:HGNC:6330
    See related
    MIM:604937
    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
    NKAT6; p58.2; CD158b; NKAT-6; CD158B1
    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]
    Annotation information
    Annotation category: only annotated on alternate loci and patches unit in reference assembly
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    Genomic context

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    See KIR2DL2 in Genome Data Viewer
    Location:
    19q13.4
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_35) NT_113949.2 (106543..121108, complement)
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_12) NT_187638.1 (86166..100707, complement)
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_16) NT_187642.1 (84686..99227, complement)
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_18) NT_187644.1 (113614..128174, complement)
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_22) NT_187670.1 (113706..128262, complement)
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_29) NT_187677.1 (45681..60217)
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_2) NW_003571055.2 (369241..402180)
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_8) NW_003571061.2 (480740..495279)
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107310.1 (58738..116311)

    NT_187638.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3

    NT_187642.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3

    NT_187644.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3

    NW_003571055.2Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak3554 silencer Neighboring gene leukocyte immunoglobulin like receptor A4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54868647-54869166 Neighboring gene leukocyte associated immunoglobulin like receptor 1 Neighboring gene NANOG hESC enhancer GRCh37_chr19:54903053-54903600 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

    NT_187670.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:55246834-55248033 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3

    NT_187677.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2 Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4

    NT_113949.2Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3

    NW_003571061.2Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55431695-55432196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55432197-55432696 Neighboring gene natural cytotoxicity triggering receptor 1 Neighboring gene NLR family pyrin domain containing 7

    NW_016107310.1Genomic Context describing neighboring genes Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2 Neighboring gene killer cell immunoglobulin-like receptor 2DS2 Neighboring gene killer cell immunoglobulin-like receptor 2DL5A 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

    Bibliography

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    Related articles in PubMed

    1. Large-Scale Imputation of KIR Copy Number and HLA Alleles in North American and European Psoriasis Case-Control Cohorts Reveals Association of Inhibitory KIR2DL2 With Psoriasis. Ahn R, et al. Front Immunol, 2021. PMID 34177931, Free PMC Article
    2. Inhibitory KIR2DL2 Gene: Risk for Deep Endometriosis in Euro-descendants. Marin MLC, et al. Reprod Sci, 2021 Jan. PMID 32661880
    3. KIR/HLA Gene Profile Implication in Systemic Sclerosis Patients from Mexico. Machado-Sulbaran AC, et al. J Immunol Res, 2019. PMID 30723749, Free PMC Article
    4. KIR2DL2/C1 is a Risk Factor for Chronic Infection and Associated with Non-response to PEG-IFN and RBV Combination Therapy in Hepatitis C Virus Genotype 1b Patients in China. Hu S, et al. Virol Sin, 2018 Aug. PMID 30039498, Free PMC Article
    5. Evaluation of the implication of KIR2DL2 receptor in multiple sclerosis and herpesvirus susceptibility. Ben Fredj N, et al. J Neuroimmunol, 2014 Jun 15. PMID 24735502

    See all (174) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Evaluation of the genetic diversity of KIR genes in patients with endometrial cancer.
      Title: Evaluation of the genetic diversity of KIR genes in patients with endometrial cancer.
    2. The KIR2DL2/HLA-C1C1 Gene Pairing Is Associated With an Increased Risk of SARS-CoV-2 Infection.
      Title: The KIR2DL2/HLA-C1C1 Gene Pairing Is Associated With an Increased Risk of SARS-CoV-2 Infection.
    3. Killer Cell Immunoglobulin-Like Receptor Haplotype B Modulates Susceptibility to EBV-Associated Classic Hodgkin Lymphoma.
      Title: Killer Cell Immunoglobulin-Like Receptor Haplotype B Modulates Susceptibility to EBV-Associated Classic Hodgkin Lymphoma.
    4. Increased Susceptibility of the CD57(-) NK Cells Expressing KIR2DL2/3 and NKG2C to iCasp9 Gene Retroviral Transduction and the Relationships with Proliferative Potential, Activation Degree, and Death Induction Response.
      Title: Increased Susceptibility of the CD57(-) NK Cells Expressing KIR2DL2/3 and NKG2C to iCasp9 Gene Retroviral Transduction and the Relationships with Proliferative Potential, Activation Degree, and Death Induction Response.
    5. Inhibitory KIR2DL2 Gene: Risk for Deep Endometriosis in Euro-descendants.
      Title: Inhibitory KIR2DL2 Gene: Risk for Deep Endometriosis in Euro-descendants.
    6. Large-Scale Imputation of KIR Copy Number and HLA Alleles in North American and European Psoriasis Case-Control Cohorts Reveals Association of Inhibitory KIR2DL2 With Psoriasis.
      Title: Large-Scale Imputation of KIR Copy Number and HLA Alleles in North American and European Psoriasis Case-Control Cohorts Reveals Association of Inhibitory KIR2DL2 With Psoriasis.
    7. Decreased HLA-C1 alleles in couples of KIR2DL2 positive women with recurrent pregnancy loss.
      Title: Decreased HLA-C1 alleles in couples of KIR2DL2 positive women with recurrent pregnancy loss.
    8. Clinical and histopathological changes in different KIR gene profiles in chronic HCV Romanian patients.
      Title: Clinical and histopathological changes in different KIR gene profiles in chronic HCV Romanian patients.
    9. KIR and HLA-C genes in male infertility.
      Title: KIR and HLA-C genes in male infertility.
    10. Structural plasticity of KIR2DL2 and KIR2DL3 enables altered docking geometries atop HLA-C.
      Title: Structural plasticity of KIR2DL2 and KIR2DL3 enables altered docking geometries atop HLA-C.
    Submit: New GeneRIF Correction See all GeneRIFs (80)

    Phenotypes

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

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env Amino-acid polymorphisms at positions W17 and M20 in HIV-1 Env inhibit KIR2DL2 in NK cells to recognize and bind to HIV-1-infected cells PubMed
    Nef nef Amino-acid polymorphisms at positions S9 and L138 in HIV-1 Nef and Gag, respectively, inhibit KIR2DL2 in NK cells to recognize and bind to HIV-1-infected cells PubMed
    Pr55(Gag) gag HIV-1 Gag peptides (Gag144-152, Gag163-171 and Gag295-304) enhance binding of KIR2DL2 to HLA-C03:04 and result in inhibition of KIR2DL2+ primary NK cells PubMed
    gag HLA-C/HIV-1 Gag209-218 peptide complexes bind KIR2DL2, which results in functional inhibition of primary NK cells PubMed
    gag Amino-acid polymorphisms at positions S9 and L138 in HIV-1 Nef and Gag, respectively, inhibit KIR2DL2 in NK cells to recognize and bind to HIV-1-infected cells PubMed
    Vpu vpu Amino-acid polymorphisms at positions M71 and H74 in HIV-1 Vpu inhibit KIR2DL2 in NK cells to recognize and bind to HIV-1-infected cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    killer cell immunoglobulin-like receptor 2DL2
    Names
    CD158 antigen-like family member B1
    MHC class I NK cell receptor
    killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
    natural killer-associated transcript 6
    p58 NK receptor CL-43
    p58 natural killer cell receptor clone CL-43

    NCBI Reference Sequences (RefSeq)

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    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
      30696..45237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014219.3 → NP_055034.2  killer cell immunoglobulin-like receptor 2DL2 precursor

      See identical proteins and their annotated locations for NP_055034.2

      Status: REVIEWED

      Source sequence(s)
      GU182359
      UniProtKB/TrEMBL
      A0A7D5BUS2, A6NF71, D0UWM1, E3NZD3, Q6H2H0, Q8N742
      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_2023_10

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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107310.1 Reference GRCh38.p14 PATCHES

      Range
      58738..116311
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      369241..402180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_8

    Genomic

    1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

      Range
      480740..495279
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_060077552.1 → XP_059933535.1  killer cell immunoglobulin-like receptor 2DL2 isoform X1

      UniProtKB/TrEMBL
      A6NF71, Q8N742

    Reference GRCh38.p14 ALT_REF_LOCI_12

    Genomic

    1. NT_187638.1 Reference GRCh38.p14 ALT_REF_LOCI_12

      Range
      86166..100707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_060077549.1 → XP_059933532.1  killer cell immunoglobulin-like receptor 2DL2 isoform X2

      UniProtKB/Swiss-Prot
      C6EVR8, P43627, Q14951
      UniProtKB/TrEMBL
      A0A0C4ZN23

    Reference GRCh38.p14 ALT_REF_LOCI_16

    Genomic

    1. NT_187642.1 Reference GRCh38.p14 ALT_REF_LOCI_16

      Range
      84686..99227 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_060077550.1 → XP_059933533.1  killer cell immunoglobulin-like receptor 2DL2 isoform X3

      UniProtKB/TrEMBL
      A6NF71, Q8N742

    Reference GRCh38.p14 ALT_REF_LOCI_18

    Genomic

    1. NT_187644.1 Reference GRCh38.p14 ALT_REF_LOCI_18

      Range
      113614..128174 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_22

    Genomic

    1. NT_187670.1 Reference GRCh38.p14 ALT_REF_LOCI_22

      Range
      113706..128262 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_29

    Genomic

    1. NT_187677.1 Reference GRCh38.p14 ALT_REF_LOCI_29

      Range
      45681..60217
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_060077551.1 → XP_059933534.1  killer cell immunoglobulin-like receptor 2DL2 isoform X4

      UniProtKB/TrEMBL
      A6NF71, Q8N742

    Reference GRCh38.p14 ALT_REF_LOCI_35

    Genomic

    1. NT_113949.2 Reference GRCh38.p14 ALT_REF_LOCI_35

      Range
      106543..121108 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43627.1 GenPept UniProtKB/Swiss-Prot:P43627

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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