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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

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