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    LILRB5 leukocyte immunoglobulin like receptor B5 [ Homo sapiens (human) ]

    Gene ID: 10990, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LILRB5provided by HGNC
    Official Full Name
    leukocyte immunoglobulin like receptor B5provided by HGNC
    Primary source
    HGNC:HGNC:6609
    See related
    Ensembl:ENSG00000105609 MIM:604814; AllianceGenome:HGNC:6609
    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
    LIR8; CD85C; LIR-8
    Summary
    This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in spleen (RPKM 27.4), placenta (RPKM 7.8) and 15 other tissues See more
    Orthologs
    all
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    Genomic context

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    See LILRB5 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54249421..54257273, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57331818..57339670, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54753279..54761136, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904768 Neighboring gene leukocyte immunoglobulin like receptor A6 Neighboring gene uncharacterized LOC107987463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54747703-54748204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54755357-54755974 Neighboring gene RNA, U6 small nuclear 1307, pseudogene Neighboring gene Sharpr-MPRA regulatory region 15373 Neighboring gene YME1 like 1 ATPase pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expression of the innate immune receptor LILRB5 on monocytes is associated with mycobacteria exposure. Hogan LE, et al. Sci Rep, 2016 Feb 24. PMID 26908331, Free PMC Article
    2. The Leukocyte Immunoglobulin-Like Receptor Family Member LILRB5 Binds to HLA-Class I Heavy Chains. Zhang Z, et al. PLoS One, 2015. PMID 26098415, Free PMC Article
    3. Identification of the hybrid gene LILRB5-3 by long-read sequencing and implication of its novel signaling function. Hirayasu K, et al. Front Immunol, 2024. PMID 38807600, Free PMC Article
    4. CKM and LILRB5 are associated with serum levels of creatine kinase. Dubé MP, et al. Circ Cardiovasc Genet, 2014 Dec. PMID 25214527
    5. Differential expression of leukocyte immunoglobulin-like receptors on cord-blood-derived human mast cell progenitors and mature mast cells. Tedla N, et al. J Leukoc Biol, 2008 Feb. PMID 17998301

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of the hybrid gene LILRB5-3 by long-read sequencing and implication of its novel signaling function.
      Title: Identification of the hybrid gene LILRB5-3 by long-read sequencing and implication of its novel signaling function.
    2. The transcriptional profile of the orphan receptor LILRB5 is significantly up-regulated following exposure to mycobacteria.
      Title: Expression of the innate immune receptor LILRB5 on monocytes is associated with mycobacteria exposure.
    3. LILRB5 binding to intracellular HLA-class I heavy chains suggests a chaperone function
      Title: The Leukocyte Immunoglobulin-Like Receptor Family Member LILRB5 Binds to HLA-Class I Heavy Chains.
    4. The rs12975366 in the LILRB5 gene was significantly associated with CK levels of statin users.
      Title: CKM and LILRB5 are associated with serum levels of creatine kinase.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    6. Mature cord-blood-derived mast cells expressed LILRB5 in cytoplasmic granules and upon cross-linking of the high-affinity IgE receptor, released LILRB5 into the culture medium.
      Title: Differential expression of leukocyte immunoglobulin-like receptors on cord-blood-derived human mast cell progenitors and mature mast cells.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    CKM and LILRB5 Are Associated with Serum Levels of Creatine Kinase.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables inhibitory MHC class I receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell surface receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in defense response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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
    leukocyte immunoglobulin-like receptor subfamily B member 5
    Names
    CD85 antigen-like family member C
    leucocyte Ig-like receptor B5
    leukocyte immunoglobulin like receptor B5 long splicing isoform
    leukocyte immunoglobulin like receptor B5 short splicing isoform
    leukocyte immunoglobulin-like receptor 8
    leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5

    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.

    mRNA and Protein(s)

    1. NM_001081442.3 → NP_001074911.2  leukocyte immunoglobulin-like receptor subfamily B member 5 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC245052
      Consensus CDS
      CCDS46176.1
      UniProtKB/TrEMBL
      A0A0G2JNP3, A0A0G2JPM8
      Related
      ENSP00000406478.1, ENST00000449561.3
      Conserved Domains (2) summary
      cd05751
      Location:27 → 118
      Ig1_LILR_KIR_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILRs), Natural killer inhibitory receptors (KIRs) and similar domains
      cl11960
      Location:223 → 316
      Ig; Immunoglobulin domain

    2. NM_001081443.3 → NP_001074912.2  leukocyte immunoglobulin-like receptor subfamily B member 5 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC245052
      Consensus CDS
      CCDS42611.1
      UniProtKB/TrEMBL
      A0A0G2JNY7
      Related
      ENSP00000263430.8, ENST00000345866.10
      Conserved Domains (2) summary
      cd05751
      Location:27 → 118
      Ig1_LILR_KIR_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILRs), Natural killer inhibitory receptors (KIRs) and similar domains
      cl11960
      Location:123 → 216
      Ig; Immunoglobulin domain

    3. NM_001304457.3 → NP_001291386.2  leukocyte immunoglobulin-like receptor subfamily B member 5 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses alternate in-frame splice sites in the 5' coding region and in the 3' coding region, compared to variant 1. The encoded isoform (4) is longer than isoform 1.
      Source sequence(s)
      AC245052
      UniProtKB/TrEMBL
      A0A0G2JNP3
      Conserved Domains (3) summary
      PRK10263
      Location:374 → 620
      PRK10263; DNA translocase FtsK; Provisional
      cd05751
      Location:27 → 118
      Ig1_LILR_KIR_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILRs), Natural killer inhibitory receptors (KIRs) and similar domains
      cl11960
      Location:214 → 307
      Ig; Immunoglobulin domain

    4. NM_001412269.1 → NP_001399198.1  leukocyte immunoglobulin-like receptor subfamily B member 5 isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents an alternate allele of variant 4 on T2T-CHM13v2.0 genome assembly and contains a frameshift in the 3' CDS and a premature stop codon, compared to variant 4. It encodes isoform 5, which has a shorter and different C-terminus, compard to isoform 4.
      Source sequence(s)
      CP068259

    5. NM_006840.5 → NP_006831.2  leukocyte immunoglobulin-like receptor subfamily B member 5 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC245052
      Consensus CDS
      CCDS12885.1
      UniProtKB/Swiss-Prot
      O75023, Q8N760
      UniProtKB/TrEMBL
      A0A0G2JNP3, A0A0G2JPM8
      Related
      ENSP00000320390.5, ENST00000316219.9
      Conserved Domains (2) summary
      cd05751
      Location:27 → 118
      Ig1_LILR_KIR_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILRs), Natural killer inhibitory receptors (KIRs) and similar domains
      cl11960
      Location:223 → 316
      Ig; Immunoglobulin domain

    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 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      54249421..54257273 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      224156..232008 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      224389..232241 complement
      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
      224425..232276 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      224393..232250 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57331818..57339670 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75023.2 GenPept UniProtKB/Swiss-Prot:O75023

    Gene LinkOut

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