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PILRB paired immunoglobin like type 2 receptor beta [ Homo sapiens (human) ]

Gene ID: 29990, updated on 11-Apr-2024

Summary

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Official Symbol
PILRBprovided by HGNC
Official Full Name
paired immunoglobin like type 2 receptor betaprovided by HGNC
Primary source
HGNC:HGNC:18297
See related
Ensembl:ENSG00000121716 MIM:605342; AllianceGenome:HGNC:18297
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
FDFACT1; FDFACT2
Summary
The paired immunoglobin-like type 2 receptors consist of highly related activating and inhibitory receptors that are involved in the regulation of many aspects of the immune system. The paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This gene encodes the activating member of the receptor pair and contains a truncated cytoplasmic tail relative to its inhibitory counterpart (PILRA), that has a long cytoplasmic tail with immunoreceptor tyrosine-based inhibitory (ITIM) motifs. This gene is thought to have arisen from a duplication of the inhibitory PILRA gene and evolved to acquire its activating function. [provided by RefSeq, Jun 2013]
Expression
Ubiquitous expression in testis (RPKM 49.6), spleen (RPKM 35.1) and 25 other tissues See more
Orthologs
all
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Genomic context

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Location:
7q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100358117..100367831)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101598196..101607910)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99955740..99965454)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene STAG3L5P-PVRIG2P-PILRB readthrough Neighboring gene PVR related immunoglobulin domain containing 2, pseudogene Neighboring gene microRNA 6840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26359 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99968027-99968778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26360 Neighboring gene paired immunoglobin like type 2 receptor alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26361 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99995395-99995894 Neighboring gene zinc finger CW-type and PWWP domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26363

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. HACS1 signaling adaptor protein recognizes a motif in the paired immunoglobulin receptor B cytoplasmic domain. Kwan JJ, et al. Commun Biol, 2020 Nov 13. PMID 33188360, Free PMC Article
  2. PILRα and PILRβ have a siglec fold and provide the basis of binding to sialic acid. Lu Q, et al. Proc Natl Acad Sci U S A, 2014 Jun 3. PMID 24843130, Free PMC Article
  3. Paired immunoglobulin-like receptor B (PIR-B) inhibits BCR-induced activation of Syk and Btk by SHP-1. Maeda A, et al. Oncogene, 1999 Apr 8. PMID 10327049
  4. Identification of major binding proteins and substrates for the SH2-containing protein tyrosine phosphatase SHP-1 in macrophages. Timms JF, et al. Mol Cell Biol, 1998 Jul. PMID 9632768, Free PMC Article
  5. The SH3-SAM adaptor HACS1 is up-regulated in B cell activation signaling cascades. Zhu YX, et al. J Exp Med, 2004 Sep 20. PMID 15381729, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HACS1 signaling adaptor protein recognizes a motif in the paired immunoglobulin receptor B cytoplasmic domain.
    Title: HACS1 signaling adaptor protein recognizes a motif in the paired immunoglobulin receptor B cytoplasmic domain.
  2. PILRbeta differs from PILRalpha in one of the three residues (Y2, R95 and W108) on the surface of PILRalpha (L108), explaining its inability to engage gB.
    Title: PILRα and PILRβ have a siglec fold and provide the basis of binding to sialic acid.
  3. Characterization of paired counterpart PILRA.
    Title: FDF03, a novel inhibitory receptor of the immunoglobulin superfamily, is expressed by human dendritic and myeloid 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

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

Readthrough STAG3L5P-PVRIG2P-PILRB

Readthrough gene: STAG3L5P-PVRIG2P-PILRB, Included gene: STAG3L5P, Included gene: PVRIG2P

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables MHC class I protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in activation of transmembrane receptor protein tyrosine kinase activity NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cell surface receptor protein tyrosine kinase signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
paired immunoglobulin-like type 2 receptor beta
Names
activating receptor PILR-beta
activating receptor PILRbeta
cell surface receptor FDFACT
cell surface receptor FDFACT1
cell surface receptor FDFACT2
paired immunoglobin-like receptor beta
paired immunoglobulin-like receptor beta

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_001371931.2 → NP_001358860.1  paired immunoglobulin-like type 2 receptor beta isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC005071
    Conserved Domains (1) summary
    cl11960
    Location:33 → 129
    Ig; Immunoglobulin domain

  2. NM_178238.4 → NP_839956.1  paired immunoglobulin-like type 2 receptor beta isoform 2 precursor

    See identical proteins and their annotated locations for NP_839956.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC005071
    Consensus CDS
    CCDS43622.1
    UniProtKB/Swiss-Prot
    Q69YF9, Q9HBS0, Q9UKJ0
    Related
    ENSP00000477365.1, ENST00000609309.3
    Conserved Domains (1) summary
    cl11960
    Location:33 → 129
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    100358117..100367831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    101598196..101607910
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_013440.3: Suppressed sequence

    Description
    NM_013440.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  2. NM_175047.2: Suppressed sequence

    Description
    NM_175047.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UKJ0.1 GenPept UniProtKB/Swiss-Prot:Q9UKJ0

Gene LinkOut

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