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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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