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    BTNL3 butyrophilin like 3 [ Homo sapiens (human) ]

    Gene ID: 10917, updated on 10-Dec-2024

    Summary

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    Official Symbol
    BTNL3provided by HGNC
    Official Full Name
    butyrophilin like 3provided by HGNC
    Primary source
    HGNC:HGNC:1143
    See related
    Ensembl:ENSG00000168903 MIM:606192; AllianceGenome:HGNC:1143
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BTNLR; BTN9.1
    Summary
    Predicted to enable signaling receptor binding activity. Predicted to be involved in T cell receptor signaling pathway and regulation of cytokine production. Predicted to be located in membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in duodenum (RPKM 59.3), small intestine (RPKM 43.9) and 1 other tissue See more
    Orthologs
    all
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    Genomic context

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    See BTNL3 in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (180988846..181006727)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (181545217..181563111)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (180415846..180433727)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene TERF2 interacting protein pseudogene Neighboring gene TMEM69 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23774 Neighboring gene ARPP19 pseudogene 1 Neighboring gene RNA, U6 small nuclear 1036, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr5:180463160-180463538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:180463783-180464709 Neighboring gene butyrophilin like 9 Neighboring gene microRNA 8089

    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. Cloning, expression analysis, and chromosomal localization of a novel butyrophilin-like receptor. Shibui A, et al. J Hum Genet, 1999. PMID 10429365
    2. Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3 genes in colon cancers. Kim JW, et al. Pathol Res Pract, 2023 Sep. PMID 37634314
    3. Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer. Bobyn A, et al. BMC Med Genet, 2020 May 6. PMID 32375678, Free PMC Article
    4. Heteromeric interactions regulate butyrophilin (BTN) and BTN-like molecules governing γδ T cell biology. Vantourout P, et al. Proc Natl Acad Sci U S A, 2018 Jan 30. PMID 29339503, Free PMC Article
    5. HSF1 phosphorylation establishes an active chromatin state via the TRRAP-TIP60 complex and promotes tumorigenesis. Fujimoto M, et al. Nat Commun, 2022 Jul 29. PMID 35906200, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    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 molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 biological_process ND
    No biological Data available
    more info
    		  
    involved_in regulation of cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    butyrophilin-like protein 3
    Names
    butyrophilin-like receptor

    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_197975.3 → NP_932079.1  butyrophilin-like protein 3 precursor

      See identical proteins and their annotated locations for NP_932079.1

      Status: VALIDATED

      Source sequence(s)
      AK025267, AY358385, DA431389
      Consensus CDS
      CCDS47358.1
      UniProtKB/Swiss-Prot
      Q496L7, Q6UXE8, Q9Y2C7
      Related
      ENSP00000341787.6, ENST00000342868.7
      Conserved Domains (2) summary
      cd13733
      Location:289 → 461
      SPRY_PRY_C-I_1; PRY/SPRY domain in tripartite motif-containing (TRIM) proteins, including TRIM5, TRIM6, TRIM7, TRIM10, TRIM11, TRIM17, TRIM20, TRIM21, TRIM27, TRIM35, TRIM38, TRIM41, TRIM50, TRIM58, TRIM60, TRIM62, TRIM69, TRIM72, NF7 and bloodthirsty
      cd05713
      Location:33 → 132
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      180988846..181006727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      181545217..181563111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_006707.2: Suppressed sequence

      Description
      NM_006707.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UXE8.2 GenPept UniProtKB/Swiss-Prot:Q6UXE8

    Gene LinkOut

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

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