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LILRB4 leukocyte immunoglobulin like receptor B4 [ Homo sapiens (human) ]

Gene ID: 11006, updated on 26-Nov-2021

Summary

Official Symbol
LILRB4provided by HGNC
Official Full Name
leukocyte immunoglobulin like receptor B4provided by HGNC
Primary source
HGNC:HGNC:6608
See related
Ensembl:ENSG00000186818 MIM:604821
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
ILT3; LIR5; CD85K; ILT-3; LIR-5
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). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in appendix (RPKM 9.2), lymph node (RPKM 8.1) and 17 other tissues See more
Orthologs
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Genomic context

See LILRB4 in Genome Data Viewer
Location:
19q13.42
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (54662524..54668718)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55174271..55181810)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene microRNA 8061 Neighboring gene vomeronasal 1 receptor 105 pseudogene Neighboring gene uncharacterized LOC102724290 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
GeneReviews: Not available
Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in Fc receptor mediated inhibitory signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in interleukin-10-mediated signaling pathway IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in negative regulation of I-kappaB kinase/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of IP-10 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of T cell costimulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of T cell cytokine production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of T cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of T cell receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of T cell receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of activated T cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of chemokine production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cytokine production involved in inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cytotoxic T cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of interferon-gamma production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of interleukin-1 beta production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of interleukin-10 production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of interleukin-2 production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of interleukin-5 production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of interleukin-6 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of monocyte activation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of monocyte activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of osteoclast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of pri-miRNA transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of protein localization to nucleus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of protein tyrosine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of signaling receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of tumor necrosis factor production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of CD8-positive, alpha-beta T cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of T cell anergy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of regulatory T cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in receptor internalization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in tolerance induction IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
leukocyte immunoglobulin-like receptor subfamily B member 4
Names
CD85 antigen-like family member K
immunoglobulin-like transcript 3
leucocyte Ig-like receptor B4
leukocyte immunoglobulin-like receptor 5
leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4
monocyte inhibitory receptor HM18

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001278426.4NP_001265355.2  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001265355.2

    Status: REVIEWED

    Source sequence(s)
    AC243962
    Consensus CDS
    CCDS12902.1
    UniProtKB/Swiss-Prot
    Q8NHJ6
    Related
    ENSP00000375616.1, ENST00000391736.5
    Conserved Domains (3) summary
    cd05751
    Location:27118
    Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins
    smart00410
    Location:130198
    IG_like; Immunoglobulin like
    cl11960
    Location:123217
    Ig; Immunoglobulin domain
  2. NM_001278427.4NP_001265356.2  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC243962
    Consensus CDS
    CCDS42618.1
    UniProtKB/Swiss-Prot
    Q8NHJ6
    UniProtKB/TrEMBL
    A0A0A0MSZ8
    Related
    ENSP00000408995.2, ENST00000430952.6
    Conserved Domains (3) summary
    cd05751
    Location:27118
    Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins
    smart00410
    Location:130198
    IG_like; Immunoglobulin like
    cl11960
    Location:123217
    Ig; Immunoglobulin domain
  3. NM_001278428.4NP_001265357.2  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC243962
    UniProtKB/Swiss-Prot
    Q8NHJ6
    Conserved Domains (3) summary
    cd05751
    Location:27118
    Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins
    smart00410
    Location:130198
    IG_like; Immunoglobulin like
    cl11960
    Location:123217
    Ig; Immunoglobulin domain
  4. NM_001278429.4NP_001265358.3  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC243962
  5. NM_001278430.4NP_001265359.2  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC243962
    UniProtKB/Swiss-Prot
    Q8NHJ6
    Conserved Domains (3) summary
    cd05751
    Location:27118
    Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins
    smart00410
    Location:130198
    IG_like; Immunoglobulin like
    cl11960
    Location:123217
    Ig; Immunoglobulin domain
  6. NM_001394933.1NP_001381862.1  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC243962
  7. NM_001394934.1NP_001381863.1  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AC243962
  8. NM_001394935.1NP_001381864.1  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AC243962
  9. NM_001394936.1NP_001381865.1  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC243962
  10. NM_001394937.1NP_001381866.1  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC243962
  11. NM_001394938.1NP_001381867.1  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC243962
  12. NM_001394939.1NP_001381868.1  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform 12 precursor

    Status: REVIEWED

    Source sequence(s)
    AC243962

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    54662524..54668718
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026215.1XP_016881704.1  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform X1

    Related
    ENSP00000375613.3, ENST00000391733.7
  2. XM_017026216.1XP_016881705.1  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform X2

RNA

  1. XR_002958246.1 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    569376..575121
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    567867..573600
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p13 ALT_REF_LOCI_8

    Range
    389476..395222
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p13 ALT_REF_LOCI_9

    Range
    645551..651283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001081438.1: Suppressed sequence

    Description
    NM_001081438.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
  2. NM_006847.3: Suppressed sequence

    Description
    NM_006847.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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