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

Gene ID: 10990, updated on 11-Apr-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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Location:
19q13.42
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54249421..54257273, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57331818..57339670, complement)
105.20220307 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. CKM and LILRB5 are associated with serum levels of creatine kinase. Dubé MP, et al. Circ Cardiovasc Genet, 2014 Dec. PMID 25214527
  4. 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
  5. A family of human lymphoid and myeloid Ig-like receptors, some of which bind to MHC class I molecules. Borges L, et al. J Immunol, 1997 Dec 1. PMID 9548455

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
  5. 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)

Genotypes

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 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 TAS
Traceable Author Statement
more info
 PubMed 
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 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_2023_10

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

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