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BTN3A3 butyrophilin subfamily 3 member A3 [ Homo sapiens (human) ]

Gene ID: 10384, updated on 5-Mar-2024

Summary

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Official Symbol
BTN3A3provided by HGNC
Official Full Name
butyrophilin subfamily 3 member A3provided by HGNC
Primary source
HGNC:HGNC:1140
See related
Ensembl:ENSG00000111801 MIM:613595; AllianceGenome:HGNC:1140
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
BTF3; BTN3.3
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., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) 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 spleen (RPKM 36.1), lymph node (RPKM 22.4) and 24 other tissues See more
Orthologs
all
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Genomic context

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Location:
6p22.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (26440504..26453415)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (26308867..26321780)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (26440732..26453643)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene butyrophilin subfamily 3 member A1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:26420693-26421656 Neighboring gene butyrophilin subfamily 2 member A3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24243 Neighboring gene butyrophilin subfamily 2 member A1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:26465895-26467094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24244 Neighboring gene uncharacterized LOC285819 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:26477169-26478368 Neighboring gene CRISPRi-validated cis-regulatory element chr6.1165 Neighboring gene butyrophilin subfamily 1 member A1 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
  • 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. BTN3A3 evasion promotes the zoonotic potential of influenza A viruses. Pinto RM, et al. Nature, 2023 Jul. PMID 37380775
  2. LSECtin on tumor-associated macrophages enhances breast cancer stemness via interaction with its receptor BTN3A3. Liu D, et al. Cell Res, 2019 May. PMID 30858559, Free PMC Article
  3. Structure and evolution of the extended B7 family. Henry J, et al. Immunol Today, 1999 Jun. PMID 10354554
  4. Key implication of CD277/butyrophilin-3 (BTN3A) in cellular stress sensing by a major human γδ T-cell subset. Harly C, et al. Blood, 2012 Sep 13. PMID 22767497, Free PMC Article
  5. Correlation between DNA methylation and gene expression in the brains of patients with bipolar disorder and schizophrenia. Chen C, et al. Bipolar Disord, 2014 Dec. PMID 25243493, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of the BTN3A3 Gene as a Molecule Implicated in Generalized Pustular Psoriasis in a Chinese Population.
    Title: Identification of the BTN3A3 Gene as a Molecule Implicated in Generalized Pustular Psoriasis in a Chinese Population.
  2. Macrophage-specific silencing of BTN3A3 in breast cancer cells decreased cancer stem cell frequency and tumor growth. Disruption of the LSECtin-BTN3A3 axis with BTN3A3-Fc or anti-BTN3A3 monoclonal antibodies has a therapeutic effect on breast cancer.
    Title: LSECtin on tumor-associated macrophages enhances breast cancer stemness via interaction with its receptor BTN3A3.
  3. This study identified that CGPs was found to significantly correlate with the differential expression and methylation of genes encoding butyrophilin, subfamily 3, member A3.
    Title: Correlation between DNA methylation and gene expression in the brains of patients with bipolar disorder and schizophrenia.
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

Potential readthrough

Included gene: BTN2A1

Homology

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 mediated immunity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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
  
located_in membrane HDA PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
butyrophilin subfamily 3 member A3
Names
butyrophilin 3

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_001242803.2 → NP_001229732.1  butyrophilin subfamily 3 member A3 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks several exons in two regions, but the open reading frame is retained, compared to variant 1. The encoded isoform (c) has a shorter N-terminus and lacks an internal segment, compared to isoform a.
    Source sequence(s)
    BC015815, BX341863, DA445999
    UniProtKB/TrEMBL
    A0A089GIA6
    Conserved Domains (3) summary
    cd05713
    Location:3 → 102
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:1 → 101
    IG_like; Immunoglobulin like
    cd15820
    Location:127 → 303
    SPRY_PRY_BTN3; PRY/SPRY domain of butyrophilin 3 (BTN3), includes BTN3A1, BTN3A2, BTN3A3 as well as BTN-like 3 (BTNL3); BTN3A also known as CD277

  2. NM_006994.5 → NP_008925.1  butyrophilin subfamily 3 member A3 isoform a precursor

    See identical proteins and their annotated locations for NP_008925.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    BC015815, DC410234
    Consensus CDS
    CCDS4611.1
    UniProtKB/Swiss-Prot
    B4DWI7, E9PCP5, O00478
    UniProtKB/TrEMBL
    A8K6Q7, Q53FI5
    Related
    ENSP00000244519.2, ENST00000244519.7
    Conserved Domains (3) summary
    cd15820
    Location:337 → 513
    SPRY_PRY_BTN3; PRY/SPRY domain of butyrophilin 3 (BTN3), includes BTN3A1, BTN3A2, BTN3A3 as well as BTN-like 3 (BTNL3); BTN3A also known as CD277
    cd05713
    Location:45 → 144
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    cl27674
    Location:227 → 313
    BaeS; Signal transduction histidine kinase [Signal transduction mechanisms]

  3. NM_197974.3 → NP_932078.2  butyrophilin subfamily 3 member A3 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream translational start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AK301553, BC015815
    Consensus CDS
    CCDS4612.2
    UniProtKB/TrEMBL
    A8K6Q7, Q53FI5
    Related
    ENSP00000355238.3, ENST00000361232.7
    Conserved Domains (3) summary
    cd05713
    Location:3 → 102
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:1 → 101
    IG_like; Immunoglobulin like
    cd15820
    Location:288 → 464
    SPRY_PRY_BTN3; PRY/SPRY domain of butyrophilin 3 (BTN3), includes BTN3A1, BTN3A2, BTN3A3 as well as BTN-like 3 (BTNL3); BTN3A also known as CD277

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    26440504..26453415
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    26308867..26321780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00478.1 GenPept UniProtKB/Swiss-Prot:O00478

Gene LinkOut

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