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    KIR2DL5A killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A [ Homo sapiens (human) ]

    Gene ID: 57292, updated on 11-Apr-2024

    Summary

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    Official Symbol
    KIR2DL5Aprovided by HGNC
    Official Full Name
    killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5Aprovided by HGNC
    Primary source
    HGNC:HGNC:16345
    See related
    MIM:605305
    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
    CD158F; KIR2DL5; KIR2DL5.1; KIR2DL5.3
    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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    Location:
    19p13.3
    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 (46835..56299, complement)
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_10) NT_187636.1 (60196..69656, complement)
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_15) NT_187641.1 (65871..75331, complement)
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_18) NT_187644.1 (53906..63370, complement)
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_22) NT_187670.1 (53983..63443, complement)
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_27) NT_187675.1 (176095..185555)
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_2) NW_003571055.2 (450950..460414)
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107304.1 (134711..144175)

    NT_187636.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin-like receptor 2DS3-like Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4

    NT_187641.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4

    NT_187644.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4

    NW_003571055.2Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 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 1

    NT_187670.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4

    NT_187675.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin-like receptor 2DS3-like Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1

    NT_113949.2Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4

    NW_016107304.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin-like receptor 2DS5 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1

    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. KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth. Anastasaki C, et al. Oncotarget, 2017 Jul 18. PMID 28548933, Free PMC Article
    2. Thirty allele-level haplotypes centered around KIR2DL5 define the diversity in an African American population. Hou L, et al. Immunogenetics, 2010 Aug. PMID 20585770, Free PMC Article
    3. KIR2DL5 alleles mark certain combination of activating KIR genes. Du Z, et al. Genes Immun, 2008 Jul. PMID 18509341
    4. Epigenetic silencing of potentially functional KIR2DL5 alleles: Implications for the acquisition of KIR repertoires by NK cells. Gómez-Lozano N, et al. Eur J Immunol, 2007 Jul. PMID 17557377
    5. High-throughput killer cell immunoglobulin-like receptor genotyping by MALDI-TOF mass spectrometry with discovery of novel alleles. Houtchens KA, et al. Immunogenetics, 2007 Jul. PMID 17464504, Free PMC Article

    See all (101) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of KIR2DL5, KIR2DS5, and KIR2DS1 allelic variation and atopic dermatitis.
      Title: Association of KIR2DL5, KIR2DS5, and KIR2DS1 allelic variation and atopic dermatitis.
    2. KIR 2DL5 was associated with decreased CMV infection and better platelets engraftment after hematopoietic stem cell transplantation from matched sibling
      Title: The effect of killer cell immunoglobulin-like receptor genotype on outcome of hematopoietic stem cell transplantation from matched sibling.
    3. these findings establish KIR2DL5 as a new Schwann cell growth regulator relevant to sp-DNF pathogenesis, which links sporadic and NF1-associated DNFs through RAS pathway hyperactivation.
      Title: KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.
    4. Loss of KIR2DL5A gene is associated with breast cancer.
      Title: Association of the genetic diversity of killer cell immunoglobulin-like receptor genes and HLA-C ligand in Saudi women with breast cancer.
    5. KIR2DL5 gene polymorphism is associated with HIV-1 infection.
      Title: The effects of killer cell immunoglobulin-like receptor (KIR) genes on susceptibility to HIV-1 infection in the Polish population.
    6. We observed statistically lower carrier frequencies of cB03|tA01 gene-content haplotype, of cB03 haplotype motif, of the KIR2DL5 + 2DS3/2DS5 gene pair and of KIR2DL5 amongst CMV-positive pregnant women in comparison with those CMV negative
      Title: Killer-cell immunoglobulin-like receptors and cytomegalovirus reactivation during late pregnancy.
    7. Data show that KIR2DL5 receptor, KIR2DS1 protein, KIR2DS5 protein and KIR3DS1 receptors were all significantly associated with high viral load.
      Title: Killer immunoglobulin-like receptor gene repertoire influences viral load of primary human cytomegalovirus infection in renal transplant patients.
    8. The genes KIR2DL5, KIR2DS3 and KIR2DS5 were present in a significantly higher proportion of individuals in the asymptomatic control group than in the malaria cases.
      Title: Killer-cell immunoglobulin-like receptors and falciparum malaria in southwest Nigeria.
    9. A significant upregulation of KIR2DL5A occurs in Alzheimer's disease fast progessors compared to slow progressors.
      Title: Gene expression profiling of peripheral blood leukocytes shows consistent longitudinal downregulation of TOMM40 and upregulation of KIR2DL5A, PLOD1, and SLC2A8 among fast progressors in early Alzheimer's disease.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    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

    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

    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 2DL5A
    Names
    killer cell immunoglobulin-like receptor KIR2DL5A
    killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5
    killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A

    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
      153550..163014
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020535.3 → NP_065396.1  killer cell immunoglobulin-like receptor 2DL5A precursor

      See identical proteins and their annotated locations for NP_065396.1

      Status: REVIEWED

      Source sequence(s)
      AF204903
      UniProtKB/Swiss-Prot
      Q8N109
      UniProtKB/TrEMBL
      A0A191URI1, A0A5J6VML2, A0A5J6VQF1
      Conserved Domains (2) summary
      cd00096
      Location:29 → 33
      Ig; Ig strand A [structural motif]
      cl11960
      Location:28 → 117
      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_016107304.1 Reference GRCh38.p14 PATCHES

      Range
      134711..144175
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332044.1 → XP_054188019.1  killer cell immunoglobulin-like receptor 2DL5A isoform X1

      UniProtKB/TrEMBL
      A0A376A8X2

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      450950..460414
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330199.1 → XP_054186174.1  killer cell immunoglobulin-like receptor 2DL5A isoform X2

      UniProtKB/TrEMBL
      A0A376A8X2

    Reference GRCh38.p14 ALT_REF_LOCI_10

    Genomic

    1. NT_187636.1 Reference GRCh38.p14 ALT_REF_LOCI_10

      Range
      60196..69656 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333428.1 → XP_054189403.1  killer cell immunoglobulin-like receptor 2DL5A isoform X3

      UniProtKB/TrEMBL
      A0A376A8X2

    Reference GRCh38.p14 ALT_REF_LOCI_15

    Genomic

    1. NT_187641.1 Reference GRCh38.p14 ALT_REF_LOCI_15

      Range
      65871..75331 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333439.1 → XP_054189414.1  killer cell immunoglobulin-like receptor 2DL5A isoform X4

      UniProtKB/TrEMBL
      A0A376A8X2

    Reference GRCh38.p14 ALT_REF_LOCI_18

    Genomic

    1. NT_187644.1 Reference GRCh38.p14 ALT_REF_LOCI_18

      Range
      53906..63370 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333447.1 → XP_054189422.1  killer cell immunoglobulin-like receptor 2DL5A isoform X5

      UniProtKB/TrEMBL
      A0A376A8X2

    Reference GRCh38.p14 ALT_REF_LOCI_22

    Genomic

    1. NT_187670.1 Reference GRCh38.p14 ALT_REF_LOCI_22

      Range
      53983..63443 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333456.1 → XP_054189431.1  killer cell immunoglobulin-like receptor 2DL5A isoform X6

      UniProtKB/TrEMBL
      A0A376A8X2

    Reference GRCh38.p14 ALT_REF_LOCI_27

    Genomic

    1. NT_187675.1 Reference GRCh38.p14 ALT_REF_LOCI_27

      Range
      176095..185555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333476.1 → XP_054189451.1  killer cell immunoglobulin-like receptor 2DL5A isoform X7

      UniProtKB/TrEMBL
      A0A376A8X2

    Reference GRCh38.p14 ALT_REF_LOCI_35

    Genomic

    1. NT_113949.2 Reference GRCh38.p14 ALT_REF_LOCI_35

      Range
      46835..56299 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333508.1 → XP_054189483.1  killer cell immunoglobulin-like receptor 2DL5A isoform X8

      UniProtKB/TrEMBL
      A0A376A8X2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N109.1 GenPept UniProtKB/Swiss-Prot:Q8N109

    Gene LinkOut

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

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