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

    Gene ID: 29990, updated on 28-Oct-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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    See PILRB in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100358117..100367831)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101598196..101607910)
    RS_2024_09 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 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. PILRB potentiates the PI3K/AKT signaling pathway and reprograms cholesterol metabolism to drive gastric tumorigenesis and metastasis. Wang X, et al. Cell Death Dis, 2024 Sep 3. PMID 39227585, Free PMC Article
    2. 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
    3. 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
    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. 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

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PILRB potentiates the PI3K/AKT signaling pathway and reprograms cholesterol metabolism to drive gastric tumorigenesis and metastasis.
      Title: PILRB potentiates the PI3K/AKT signaling pathway and reprograms cholesterol metabolism to drive gastric tumorigenesis and metastasis.
    2. 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.
    3. 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.
    4. 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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