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    KIR2DL5B killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B [ Homo sapiens (human) ]

    Gene ID: 553128, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KIR2DL5Bprovided by HGNC
    Official Full Name
    killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5Bprovided by HGNC
    Primary source
    HGNC:HGNC:16346
    See related
    MIM:615727; AllianceGenome:HGNC:16346
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KIR2DL5; KIR2DLX; KIR2DL5.2
    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 KIR2DL5B in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_10) NT_187636.1 (166421..192482, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_14) NT_187640.1 (121882..147909, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_20) NT_187668.1 (122798..148861, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_27) NT_187675.1 (53265..79329)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_31) NT_187684.1 (134455..144052, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_33) NT_187686.1 (133293..159358, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107303.1 (134746..144242)

    NT_187636.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains pseudogene 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short 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 and long cytoplasmic tail 3

    NT_187640.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains pseudogene 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short 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 and long cytoplasmic tail 3

    NT_187668.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains pseudogene 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 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_187675.1Genomic 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 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains pseudogene 1

    NT_187684.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains pseudogene 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3

    NT_187686.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains pseudogene 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 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_016107303.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin-like receptor 2DL4-like Neighboring gene killer cell immunoglobulin-like receptor 3DS1-like Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains pseudogene 1-like

    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. KIR2DL5B genotype predicts outcomes in CML patients treated with response-directed sequential imatinib/nilotinib strategy. Yeung DT, et al. Blood, 2015 Dec 17. PMID 26500342
    2. KIR2DL5B and HLA DRB1*12 alleles seems to be associated with protection against HIV-1 in serodiscordant couples in Burkina Faso. Lallogo TD, et al. J Med Virol, 2022 Sep. PMID 35501290
    3. Gene structure and promoter variation of expressed and nonexpressed variants of the KIR2DL5 gene. Vilches C, et al. J Immunol, 2000 Dec 1. PMID 11086080
    4. Some human KIR haplotypes contain two KIR2DL5 genes: KIR2DL5A and KIR2DL5B. Gómez-Lozano N, et al. Immunogenetics, 2002 Aug. PMID 12185535
    5. Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4. Santin I, et al. Genes Immun, 2007 Mar. PMID 17215859

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KIR2DL5B and HLA DRB1*12 alleles seems to be associated with protection against HIV-1 in serodiscordant couples in Burkina Faso.
      Title: KIR2DL5B and HLA DRB1*12 alleles seems to be associated with protection against HIV-1 in serodiscordant couples in Burkina Faso.
    2. We found the presence of KIR2DL5B to be associated with inferior transformation-free survival and event-free survival in patients with chronic phase-chronic myeloid leukemia
      Title: KIR2DL5B genotype predicts outcomes in CML patients treated with response-directed sequential imatinib/nilotinib strategy.
    3. indicate that killer-cell immunoglobulin-like receptors (KIRs)activator (KIR3DS1 and KIR2DS5) and inhibitory (KIR2DL5) genes are associated with severe pandemic influenza A (H1N1) 2009 infections.
      Title: Killer-cell immunoglobulin-like receptors (KIR) in severe A (H1N1) 2009 influenza infections.
    4. KIR2DL3, KIR2DS5 and KIR2DL5B genes may be correlated with pathogenesis of nasopharyngeal carcinoma in the Chinese southern Han population.
      Title: [Correlation of killer immunoglobulin-like receptor gene diversity with nasopharyngeal carcinoma in Chinese southern Han population].
    5. Alleles commonly found in a Northern Irish population of 354 individuals were KIR2DL5A*001, KIR2DL5A*005, and KIR2DL5B*002.
      Title: Investigation of killer cell immunoglobulin-like receptor (KIR) gene diversity: KIR2DL2, KIR2DL5 and KIR2DS5.
    6. Promoter variants of KIR2DL5 add to diversity and may impact gene expression.
      Title: Promoter variants of KIR2DL5 add to diversity and may impact gene expression.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of KIR2DS1 and KIR2DS3 with fatal outcome in Ebola virus infection.
    8. Observational study of genotype prevalence. (HuGE Navigator)
      Title: Killer cell immunoglobulin-like receptor gene diversity in the Tibetan ethnic minority group of China.
    9. Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4.
      Title: Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4.
    Submit: New GeneRIF Correction

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Gene Ontology Provided by GOA

    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
    		  

    General protein information

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    Preferred Names
    killer cell immunoglobulin-like receptor 2DL5B
    Names
    CD158 antigen-like family member F2
    killer Ig receptor
    killer cell immunoglobulin-like receptor 2DL5
    killer cell immunoglobulin-like receptor 2DLX
    killer cell immunoglobulin-like receptor two domains long cytoplasmic tail 5
    killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B
    killer-cell Ig-like receptor

    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
      47268..56784
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      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001018081.2 → NP_001018091.2  killer cell immunoglobulin-like receptor 2DL5B precursor

      Status: VALIDATED

      Source sequence(s)
      GU182343
      UniProtKB/TrEMBL
      A0A0G2JPC4

    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 PATCHES

    Genomic

    1. NW_016107303.1 Reference GRCh38.p14 PATCHES

      Range
      134746..144242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332037.1 → XP_054188012.1  killer cell immunoglobulin-like receptor 2DL5B isoform X1

      UniProtKB/TrEMBL
      B0L652

    Reference GRCh38.p14 ALT_REF_LOCI_10

    Genomic

    1. NT_187636.1 Reference GRCh38.p14 ALT_REF_LOCI_10

      Range
      166421..192482 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333429.1 → XP_054189404.1  killer cell immunoglobulin-like receptor 2DL5B isoform X2

      UniProtKB/Swiss-Prot
      B0L651, Q8NHK3, Q8NHK4
      UniProtKB/TrEMBL
      A0A330IXA5

    Reference GRCh38.p14 ALT_REF_LOCI_14

    Genomic

    1. NT_187640.1 Reference GRCh38.p14 ALT_REF_LOCI_14

      Range
      121882..147909 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333435.1 → XP_054189410.1  killer cell immunoglobulin-like receptor 2DL5B isoform X4

      UniProtKB/TrEMBL
      A0A5F9ZHH1

    2. XM_054333434.1 → XP_054189409.1  killer cell immunoglobulin-like receptor 2DL5B isoform X3

      UniProtKB/Swiss-Prot
      B0L651, Q8NHK3, Q8NHK4
      UniProtKB/TrEMBL
      A0A330IXA5

    Reference GRCh38.p14 ALT_REF_LOCI_20

    Genomic

    1. NT_187668.1 Reference GRCh38.p14 ALT_REF_LOCI_20

      Range
      122798..148861 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333451.1 → XP_054189426.1  killer cell immunoglobulin-like receptor 2DL5B isoform X6

    2. XM_054333450.1 → XP_054189425.1  killer cell immunoglobulin-like receptor 2DL5B isoform X5

      UniProtKB/TrEMBL
      A0A0G2JN68

    Reference GRCh38.p14 ALT_REF_LOCI_27

    Genomic

    1. NT_187675.1 Reference GRCh38.p14 ALT_REF_LOCI_27

      Range
      53265..79329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333477.1 → XP_054189452.1  killer cell immunoglobulin-like receptor 2DL5B isoform X7

      UniProtKB/Swiss-Prot
      B0L651, Q8NHK3, Q8NHK4
      UniProtKB/TrEMBL
      A0A330IXA5

    Reference GRCh38.p14 ALT_REF_LOCI_31

    Genomic

    1. NT_187684.1 Reference GRCh38.p14 ALT_REF_LOCI_31

      Range
      134455..144052 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333498.1 → XP_054189473.1  killer cell immunoglobulin-like receptor 2DL5B isoform X8

    Reference GRCh38.p14 ALT_REF_LOCI_33

    Genomic

    1. NT_187686.1 Reference GRCh38.p14 ALT_REF_LOCI_33

      Range
      133293..159358 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333502.1 → XP_054189477.1  killer cell immunoglobulin-like receptor 2DL5B isoform X10

      UniProtKB/TrEMBL
      A0A5F9ZHH1

    2. XM_054333501.1 → XP_054189476.1  killer cell immunoglobulin-like receptor 2DL5B isoform X9

      UniProtKB/TrEMBL
      B0L653
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHK3.2 GenPept UniProtKB/Swiss-Prot:Q8NHK3

    Gene LinkOut

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

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