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    BTN2A3P butyrophilin subfamily 2 member A3, pseudogene [ Homo sapiens (human) ]

    Gene ID: 54718, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BTN2A3Pprovided by HGNC
    Official Full Name
    butyrophilin subfamily 2 member A3, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:13229
    See related
    Ensembl:ENSG00000291104 MIM:613592; AllianceGenome:HGNC:13229
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BTN2.3; BTN2A3
    Summary
    The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A3) and BTN3 (e.g., BNT3A1; MIM 613593) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]
    Expression
    Ubiquitous expression in endometrium (RPKM 1.5), spleen (RPKM 1.4) and 24 other tissues See more
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    Genomic context

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    See BTN2A3P in Genome Data Viewer
    Location:
    6p22.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (26421391..26430588)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (26289755..26298952)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (26421619..26430816)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene butyrophilin subfamily 2 member A2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24241 Neighboring gene butyrophilin subfamily 3 member A1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:26420693-26421656 Neighboring gene butyrophilin subfamily 3 member A3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24243 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:26465895-26467094 Neighboring gene butyrophilin subfamily 2 member A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24244 Neighboring gene uncharacterized LOC285819

    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. BTN1A1, the mammary gland butyrophilin, and BTN2A2 are both inhibitors of T cell activation. Smith IA, et al. J Immunol, 2010 Apr 1. PMID 20208008
    2. The cluster of BTN genes in the extended major histocompatibility complex. Rhodes DA, et al. Genomics, 2001 Feb 1. PMID 11170752
    3. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404
    4. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    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

    Other Names

    • butyrophilin, subfamily 2, member A pseudogene

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in T cell receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    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.

    RNA

    1. NR_027795.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK056871, DA706324, DB133005
      Related
      ENST00000465856.6

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      26421391..26430588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      26289755..26298952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_024018.1: Suppressed sequence

      Description
      NM_024018.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96KV6.2 GenPept UniProtKB/Swiss-Prot:Q96KV6

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials