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    BTNL8 butyrophilin like 8 [ Homo sapiens (human) ]

    Gene ID: 79908, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BTNL8provided by HGNC
    Official Full Name
    butyrophilin like 8provided by HGNC
    Primary source
    HGNC:HGNC:26131
    See related
    Ensembl:ENSG00000113303 MIM:615606; AllianceGenome:HGNC:26131
    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
    BTN9.2
    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 plasma membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in duodenum (RPKM 27.0), small intestine (RPKM 20.3) and 3 other tissues See more
    Orthologs
    all
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    Genomic context

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    See BTNL8 in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (180899159..180950906)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (181455522..181507277)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (180326159..180377906)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16775 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16776 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16777 Neighboring gene long intergenic non-protein coding RNA 847 Neighboring gene ZFP62 zinc finger protein Neighboring gene Sharpr-MPRA regulatory region 9005 Neighboring gene hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23772 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:180288413-180289319 Neighboring gene uncharacterized LOC124901155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23773 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:180334710-180335266 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:180335267-180335821 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:180376978-180378177 Neighboring gene ribosomal protein S29 pseudogene 12 Neighboring gene TERF2 interacting protein pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23774 Neighboring gene TMEM69 pseudogene 2 Neighboring gene ARPP19 pseudogene 1

    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. BTNL8, a butyrophilin-like molecule that costimulates the primary immune response. Chapoval AI, et al. Mol Immunol, 2013 Dec. PMID 24036152
    2. 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
    3. 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
    4. A secreted protein microarray platform for extracellular protein interaction discovery. Ramani SR, et al. Anal Biochem, 2012 Jan 15. PMID 21982860
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. Zhang Z, et al. Protein Sci, 2004 Oct. PMID 15340161, Free PMC Article

    See all (15) 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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21458, FLJ51528, MGC149619

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 adaptive immune response IEA
    Inferred from Electronic Annotation
    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
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    butyrophilin-like protein 8
    Names
    B7-H5 costimulatory molecule

    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_001040462.3 → NP_001035552.1  butyrophilin-like protein 8 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001035552.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the middle portion of the coding region compared to variant 1, that results in a frameshift. It encodes isoform 2, previously known as the long form, which is longer and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK025111, AY358523
      Consensus CDS
      CCDS43413.1
      UniProtKB/Swiss-Prot
      A4QMZ8, A6NEX6, B7Z409, B7Z5B1, E9PEF6, E9PG07, F2Z2B2, F8W712, Q6UX41, Q9H730
      Related
      ENSP00000342197.4, ENST00000340184.9
      Conserved Domains (3) summary
      cd05713
      Location:33 → 132
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:26 → 131
      IG_like; Immunoglobulin like
      cd13733
      Location:289 → 460
      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

    2. NM_001159707.2 → NP_001153179.1  butyrophilin-like protein 8 isoform 3 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region and uses an alternate splice site in the middle portion of the coding region compared to variant 1, that results in a frameshift. It encodes isoform 3, which is longer and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK025111, AK298687, BC119696, DA425770
      Consensus CDS
      CCDS54957.1
      UniProtKB/Swiss-Prot
      Q6UX41
      Related
      ENSP00000425207.1, ENST00000511704.5
      Conserved Domains (1) summary
      cd13733
      Location:173 → 344
      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

    3. NM_001159708.2 → NP_001153180.1  butyrophilin-like protein 8 isoform 4 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the 3' coding region compared to variant 1. This variant encodes isoform 4, which is shorter than isoform 1.
      Source sequence(s)
      AK025111, BC119697, DA425770
      Consensus CDS
      CCDS54956.1
      UniProtKB/Swiss-Prot
      Q6UX41
      Related
      ENSP00000424585.1, ENST00000508408.5
      Conserved Domains (2) summary
      cd05713
      Location:33 → 132
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:26 → 131
      IG_like; Immunoglobulin like

    4. NM_001159709.2 → NP_001153181.1  butyrophilin-like protein 8 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate in-frame exon in the 5' coding region and uses an alternate start codon compared to variant 1. This variant (5) also uses an alternate splice site in the middle portion of the coding region compared to variant 1, that results in a frameshift. It encodes isoform 5, which is longer and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK025111, AK296597
      Consensus CDS
      CCDS54958.1
      UniProtKB/Swiss-Prot
      Q6UX41
      Related
      ENSP00000383543.3, ENST00000400707.7
      Conserved Domains (1) summary
      cd13733
      Location:164 → 335
      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

    5. NM_001159710.2 → NP_001153182.1  butyrophilin-like protein 8 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at downstream start codon, compared to variant 1. This variant (6) also uses an alternate splice site in the middle portion of the coding region compared to variant 1, that results in a frameshift. It encodes isoform 6, which is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK025111, AK298687
      Consensus CDS
      CCDS54959.1
      UniProtKB/TrEMBL
      D6RIR7
      Related
      ENSP00000435098.2, ENST00000533815.2
      Conserved Domains (1) summary
      cd13733
      Location:105 → 276
      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

    6. NM_024850.3 → NP_079126.1  butyrophilin-like protein 8 isoform 1 precursor

      See identical proteins and their annotated locations for NP_079126.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1, previously known as the short form.
      Source sequence(s)
      AK025111, DA425770
      Consensus CDS
      CCDS4459.1
      UniProtKB/Swiss-Prot
      Q6UX41
      Related
      ENSP00000231229.4, ENST00000231229.8
      Conserved Domains (2) summary
      cd05713
      Location:33 → 132
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:26 → 131
      IG_like; Immunoglobulin like

    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
      180899159..180950906
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417764.1 → XP_047273720.1  butyrophilin-like protein 8 isoform X1

    2. XM_011534649.3 → XP_011532951.1  butyrophilin-like protein 8 isoform X2

      Conserved Domains (3) summary
      cd05713
      Location:33 → 132
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:26 → 131
      IG_like; Immunoglobulin like
      cd13733
      Location:251 → 422
      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

    3. XM_011534653.3 → XP_011532955.1  butyrophilin-like protein 8 isoform X6

      UniProtKB/TrEMBL
      D6RIR7
      Conserved Domains (1) summary
      cd13733
      Location:81 → 252
      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

    4. XM_011534650.3 → XP_011532952.1  butyrophilin-like protein 8 isoform X3

      Conserved Domains (3) summary
      smart00410
      Location:11 → 81
      IG_like; Immunoglobulin like
      cd13733
      Location:239 → 410
      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
      cl11960
      Location:1 → 82
      Ig; Immunoglobulin domain

    5. XM_011534651.4 → XP_011532953.1  butyrophilin-like protein 8 isoform X4

      Conserved Domains (1) summary
      cd13733
      Location:178 → 349
      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

    6. XM_011534652.4 → XP_011532954.1  butyrophilin-like protein 8 isoform X5

      Conserved Domains (1) summary
      cd13733
      Location:170 → 341
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      181455522..181507277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353523.1 → XP_054209498.1  butyrophilin-like protein 8 isoform X1

    2. XM_054353524.1 → XP_054209499.1  butyrophilin-like protein 8 isoform X2

    3. XM_054353528.1 → XP_054209503.1  butyrophilin-like protein 8 isoform X6

    4. XM_054353525.1 → XP_054209500.1  butyrophilin-like protein 8 isoform X3

    5. XM_054353526.1 → XP_054209501.1  butyrophilin-like protein 8 isoform X4

    6. XM_054353527.1 → XP_054209502.1  butyrophilin-like protein 8 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UX41.1 GenPept UniProtKB/Swiss-Prot:Q6UX41

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