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BTN3A2 Gene

protein-coding   GIFtS: 54
GCID: GC06P026365

Butyrophilin, Subfamily 3, Member A2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Butyrophilin, Subfamily 3, Member A21 2     CD2772
BTF42 3 5     Butyrophilin Protein2
BT3.22 3     Butyrophilin Subfamily 3 Member A22
BTN3.22     BTF33

External Ids:    HGNC: 11391   Entrez Gene: 111182   Ensembl: ENSG000001864707   OMIM: 6135945   UniProtKB: P784103   

Export aliases for BTN3A2 gene to outside databases

Previous GC identifers: GC06P026423 GC06P026473 GC06P026308


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BTN3A2 Gene:
This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the
major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The
encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Jun 2013)

GeneCards Summary for BTN3A2 Gene:
BTN3A2 (butyrophilin, subfamily 3, member A2) is a protein-coding gene. Diseases associated with BTN3A2 include hemochromatosis, and type 1 diabetes. An important paralog of this gene is BTN2A1.

UniProtKB/Swiss-Prot: BT3A2_HUMAN, P78410
Function: Plays a role in T-cell responses in the adaptive immune response. Inhibits the release of IFNG from
activated T-cells




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BTN3A2 gene promoter:
         POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBTN3A2 promoter sequence
   Search Chromatin IP Primers for BTN3A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BTN3A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p22.1   Ensembl cytogenetic band:  6p22.2   HGNC cytogenetic band: 6p22.1

BTN3A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTN3A2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P026365:  view genomic region     (about GC identifiers)

Start:
26,365,387 bp from pter      End:
26,378,548 bp from pter
Size:
13,162 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BT3A2_HUMAN, P78410 (See protein sequence)
Recommended Name: Butyrophilin subfamily 3 member A2 precursor  
Size: 334 amino acids; 36428 Da
Subunit: Homodimer
Sequence caution: Sequence=AAB53424.1; Type=Frameshift; Positions=317; Sequence=AAC02652.1; Type=Frameshift;
Positions=334; Sequence=AAC02655.1; Type=Frameshift; Positions=334;
1 PDB 3D structure from and Proteopedia for BTN3A2:
4F8Q (3D)    
Secondary accessions: B4DRT7 B4E103 F5H791 F8W6E0 O00477 O15338 O75658 Q76PA0 Q9BU81 Q9NR44
Alternative splicing: 3 isoforms:  P78410-1   P78410-2   P78410-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BTN3A2: NX_P78410

Explore proteomics data for BTN3A2 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Ubiquitination2 at Lys83, Lys123, Lys231
  • Glycosylation2 at Asn115
  • Modification sites at PhosphoSitePlus

  • See BTN3A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001184175.1  NP_001184176.1  NP_001184177.1  NP_001184178.1  NP_008978.2  

    ENSEMBL proteins: 
     ENSP00000435952   ENSP00000434102   ENSP00000433749   ENSP00000433880   ENSP00000432138  
     ENSP00000348751   ENSP00000366937   ENSP00000380152   ENSP00000474533   ENSP00000380140  
     ENSP00000442687  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BTN: Butyrophilins
    VSET: Immunoglobulin superfamily / V-set domain containing

    4 InterPro protein domains:
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry P78410

    ProtoNet protein and cluster: P78410

    2 Blocks protein domains:
    IPB003599 Immunoglobulin subtype
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: BT3A2_HUMAN, P78410
    Similarity: Belongs to the immunoglobulin superfamily. BTN/MOG family
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain


    BTN3A2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BT3A2_HUMAN, P78410
    Function: Plays a role in T-cell responses in the adaptive immune response. Inhibits the release of IFNG from
    activated T-cells

         Genatlas biochemistry entry for BTN3A2:
    butyrophilin subfamily 3,member A2,B box family of proteins,involved in cell proliferation and development

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    BTN3A2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BTN3A2
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    miRNA
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    miRTarBase miRNAs that target BTN3A2:
    hsa-mir-615-3p (MIRT039803)

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    1 qRT-PCR Assays for microRNA that regulate BTN3A2:
    hsa-miR-216b
    SwitchGear 3'UTR luciferase reporter plasmidBTN3A2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BT3A2_HUMAN, P78410: Cell membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum1
    extracellular1
    lysosome1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IDA--
    GO:0016021integral component of membrane IEA--

    BTN3A2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BTN3A2
    Interactions:

        Search GeneGlobe Interaction Network for BTN3A2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for BTN3A2 (ENSP000003487514) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002456T cell mediated immunity IMP--
    GO:0072643interferon-gamma secretion IMP--

    BTN3A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BTN3A2 (BT3A2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BTN3A2 gene (5 alternative transcripts): 
    NM_001197246.2  NM_001197247.2  NM_001197248.2  NM_001197249.2  NM_007047.4  

    Unigene Cluster for BTN3A2:

    Butyrophilin, subfamily 3, member A2
    Hs.376046  [show with all ESTs]
    Unigene Representative Sequence: NM_001197247
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000532865 ENST00000530653 ENST00000527417 ENST00000524682 ENST00000528222
    ENST00000524459 ENST00000532627 ENST00000527422 ENST00000356386(uc010jqh.2 uc003nhp.3 uc011dkd.2 uc011dke.2 uc010jqi.2)
    ENST00000528541 ENST00000377708 ENST00000396948 ENST00000532994 ENST00000532294
    ENST00000531055 ENST00000527639 ENST00000604202 ENST00000396934
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate BTN3A2:
    hsa-miR-216b
    SwitchGear 3'UTR luciferase reporter plasmidBTN3A2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat BTN3A2
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    Additional mRNA sequence: 

    AF257505.1 AK290880.1 AK299417.1 AK303600.1 AK312847.1 BC002832.2 BC020214.1 BC067086.1 
    U90143.1 U90144.1 U90546.1 

    Selected DOTS entries (see all 29):

    DT.87017064  DT.100779838  DT.95160556  DT.92446085  DT.87017067  DT.92446079  DT.91719140  DT.80100198 
    DT.40108757  DT.121381038  DT.100800856  DT.121381024  DT.100721314  DT.97847081  DT.100815709  DT.121380990 
    DT.91823349  DT.95160554  DT.97773634  DT.100799407  DT.102826559  DT.121381053  DT.121381132  DT.92446083 

    Selected AceView cDNA sequences (see all 188):

    BM972781 BM712980 AI275695 AA503799 BM831724 AA173162 BM971853 NM_007047 
    CB117271 CB131421 BE672833 CB115516 C00781 AL135445 BG390011 AI499281 
    AI401221 AW074335 BU162729 AU077015 BE243465 AA565010 BC020214 AI299603 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for BTN3A2    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5
    SP1:                                                
    SP2:              -                                 
    SP3:                                                


    ECgene alternative splicing isoforms for BTN3A2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BTN3A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BTN3A2 Expression
    About this image

    BTN3A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BTN3A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.376046

    UniProtKB/Swiss-Prot: BT3A2_HUMAN, P78410
    Tissue specificity: Detected in T-cells and natural killer cells

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for BTN3A2 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Btnl45 butyrophilin-like 4   --   17 (18.06 cM) 34469042 


    ENSEMBL Gene Tree for BTN3A2 (if available)
    TreeFam Gene Tree for BTN3A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BTN3A2 gene
    BTN2A12  BTNL82  ERMAP2  BTN2A22  BTN3A32  MOG2  BTN3A12  BTNL22  
    BTN1A12  BTNL32  BTNL92  
    14 SIMAP similar genes for BTN3A2 using alignment to 6 protein entries:     BT3A2_HUMAN (see all proteins):
    BTN3A3    BTN3A1    BT3.3    BTN2A1    MOG    BTNL9
    BTNL3    BTN1A1    BTNL8    BTN2A2    BTNL10    SKINTL
    BTNL2    CD276

    BTN3A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BTN3A2 (see all 416)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1384028871,2
    --26363535(+) ACCCAC/TAGCTG 4 -- us2k10--------
    rs1859708861,2
    --26363580(+) GGGGTC/TTCATA 4 -- us2k10--------
    rs93589331,2
    C,F,A,H--26363688(+) TTGGAC/TCCTCC 4 -- us2k117Minor allele frequency- T:0.23NS EA NA WA CSA 1210
    rs362227711,2
    C,F--26363726(-) AGATCG/ATATTA 4 -- us2k14Minor allele frequency- A:0.03WA NA 242
    rs93589341,2
    C,F,A,H--26363755(+) ATAGAG/CTCTGA 4 -- us2k17Minor allele frequency- C:0.09NS EA NA 662
    rs601233091,2
    C,F--26363884(+) AGATAT/CATTGG 4 -- us2k11Minor allele frequency- C:0.08WA 118
    rs1495769951,2
    --26364033(+) CAAGGA/TTTTGT 4 -- us2k10--------
    rs109468171,2
    C,F,A,H--26364056(+) AAAAAC/TAAACT 4 -- us2k110Minor allele frequency- T:0.31NS EA WA NA 956
    rs1907909361,2
    --26364136(+) TTTAGA/GTGGTG 4 -- us2k10--------
    rs1432499451,2
    --26364250(+) TGCCTA/CATGGT 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for BTN3A2 (26365387 - 26378548 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for BTN3A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2731730CNV Deletion23290073
    esv2673332CNV Deletion23128226
    esv2731728CNV Deletion23290073
    nsv527328CNV Loss19592680
    dgv6440n71CNV Loss21882294
    nsv883491CNV Loss21882294
    nsv883499CNV Gain21882294
    nsv883496CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613594    OMIM disorders: --

    7 diseases for BTN3A2:    
    About MalaCards
    hemochromatosis    type 1 diabetes    schizophrenia    ovarian cancer
    alzheimer's disease    systemic lupus erythematosus    lupus erythematosus


    BTN3A2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): BTN3A2
    Human Genome Epidemiology (HuGE) Navigator: BTN3A2 (3 documents)

    Export disorders for BTN3A2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BTN3A2 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with BTN3A2)
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    1. A 1.1-Mb transcript map of the hereditary hemochromatosis locus. (PubMed id 9149941)1, 2, 3 Ruddy D.A.... Feder J.N. (Genome Res. 1997)
    2. Cloning, localization, and structure of new members of the butyrophilin gene family in the juxta-telomeric region of the major histocompatibility complex. (PubMed id 9382921)1, 2, 9 Tazi-Ahnini R.... Pontarotti P. (Immunogenetics 1997)
    3. The molecular basis for modulation of human Vgamma9Vdelta2 T cell responses by CD277/butyrophilin-3 (BTN3A)-specific antibodies. (PubMed id 22846996)1, 2 Palakodeti A.... Adams E.J. (J. Biol. Chem. 2012)
    4. Key implication of CD277/butyrophilin-3 (BTN3A) in cellular stress sensing by a major human gammadelta T-cell subset. (PubMed id 22767497)1, 2 Harly C.... Scotet E. (Blood 2012)
    5. Differential role for CD277 as a co-regulator of the immune signal in T and NK cells. (PubMed id 21918970)1, 2 Messal N.... Olive D. (Eur. J. Immunol. 2011)
    6. Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complex. (PubMed id 19295542)1, 4 Viken M.K....Lie B.A. (Genes Immun. 2009)
    7. Common variants on chromosome 6p22.1 are associated with schizophrenia. (PubMed id 19571809)1, 4 Shi J....Gejman P.V. (Nature 2009)
    8. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (Mol. Psychiatry 2009)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 11118 HGNC: 1139 AceView: BTN3A2 Ensembl:ENSG00000186470 euGenes: HUgn11118
    ECgene: BTN3A2 H-InvDB: BTN3A2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BTN3A2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BTN3A2 gene:
    Search GeneIP for patents involving BTN3A2

    GeneCards and IP:
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