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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 6-Jun-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
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_10) NT_187636.1 (166421..192482, complement)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_14) NT_187640.1 (121882..147909, complement)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_20) NT_187668.1 (122798..148861, complement)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_27) NT_187675.1 (53265..79329)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_31) NT_187684.1 (134455..144052, complement)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_33) NT_187686.1 (133293..159358, complement)
RS_2023_10 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. Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4. Santin I, et al. Genes Immun, 2007 Mar. PMID 17215859
  4. Some human KIR haplotypes contain two KIR2DL5 genes: KIR2DL5A and KIR2DL5B. Gómez-Lozano N, et al. Immunogenetics, 2002 Aug. PMID 12185535
  5. 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

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, A0A7D4XVY0

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_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
    A0A0Y0RBZ8, B0L652, Q8NHK5

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, A0A6G6CZ62, B0L654

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, A0A6G6CZ62, B0L654

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, A0A1B5BA05

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, A0A6G6CZ62, B0L654

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
    A0A1B5BA05, B0L653
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NHK3.2 GenPept UniProtKB/Swiss-Prot:Q8NHK3

Gene LinkOut

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