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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BTN3A2 Gene

protein-coding   GIFtS: 49
GCID: GC06P026365

butyrophilin, subfamily 3, member A2

 Explore 2 diseases affiliated with
BTN3A2 via our new
 Human Malady Compendium 
Biological research products
for BTN3A2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Butyrophilin, Subfamily 3, Member A21 2     Butyrophilin Protein2
BTF42 3 5     Butyrophilin Subfamily 3 Member A22
BT3.22 3     BTF33
BT3.32     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BTN3A2:
This gene encodes a member of the butyrophilin (BTN) family and the immunoglobulin (IG) superfamily. The gene resides
in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other six family
members, including BTN, BTN2A1, BTN2A2, BTN2A3, BTN3A1, and BTN3A3, on chromosome 6. The full-length protein encoded
by this gene is a type I membrane protein. Alternatively spliced transcript variants encoding different isoforms have
been found for this gene. (provided by RefSeq, Oct 2010)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BTN3A2 gene promoter:
         POU2F1   POU2F1a   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Cell membrane; Single-pass type I membrane protein
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

Post-translational modifications:

  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P78410

  • BTN3A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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   ENSP00000380140   ENSP00000442687  

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    Uscn Proteins for BTN3A2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    BTN3A2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    BTN3A2 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry P78410

    ProtoNet protein and cluster: P78410

    2 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

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

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002456T cell mediated immunity IMP--
    GO:0008150biological_process ----
    GO:0072643interferon-gamma secretion IMP--


    BTN3A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BTN3A2
    Search CenterWatch for drugs/clinical trials and news about BTN3A2 / BT3A2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BTN3A2 gene (5 alternative transcripts): 
    NM_001197246.1  NM_001197247.1  NM_001197248.1  NM_001197249.1  NM_007047.3  

    Unigene Cluster for BTN3A2:

    Butyrophilin, subfamily 3, member A2
    Hs.376046  [show with all ESTs]
    Unigene Representative Sequence: NM_001197247
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    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 ENST00000396934 ENST00000508906

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate BTN3A2:
    hsa-miR-216b
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    Additional cDNA sequence: 

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

    24/29 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 

    24/188 AceView cDNA sequences (see all 188):

    AA565010 BM712980 NM_007047 AA503799 BE741117 U90546 BE673518 BC067086 
    AA173162 BC002832 CR626326 AI123880 BE243465 AI273068 BM972781 BE858415 
    AI805263 BI766909 AI973228 AW074335 AA501997 AW368001 BE672833 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BTN3A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See BTN3A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BTN3A2

    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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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BTN3A2 gene from 1/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1232976
    CR846080.16
    (see all 4)
    --
    22(a)
    15(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    3(19382576-19393352)
    3(10159205-10165964)


    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)
    About This Section
    Paralogs for BTN3A2 gene
    BTN2A12  BTNL82  ERMAP2  BTN3A32  BTN2A22  HHLA22  CD2762  BTNL102  
    MOG2  BTNL22  BTN3A12  VTCN12  BTN1A12  BTNL92  BTNL32  
    14 SIMAP similar genes for BTN3A2 using alignment to 5 protein entries:     BT3A2_HUMAN (see all proteins):
    BTN3A3    BTN3A1    BT3.3    BTN2A1    BTNL9    MOG
    BTNL3    BTN2A2    BTN1A1    BTNL8    BTNL2    BTNL10
    SKINT1    CD276

    BTN3A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/338 NCBI SNPs in BTN3A2 are shown (see all 338    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
    rs1120277301,2
    C,--26364107(+) AAAAGA/-AAAAA 4 -- us2k11Minor allele frequency- -:0.00CSA 2
    rs615672261,2
    C--26364112(+) AAAAA-/ATTTTT 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for BTN3A2 (26365387 - 26378548 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BTN3A2: --

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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.)
    About This Section

    BTN3A2 for disorders           About GeneDecksing

    OMIM gene information: 613594    OMIM disorders: --

    2 diseases for BTN3A2:    About MalaCards
    hemochromatosis    schizophrenia

    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)
    About This Section

    PubMed articles for BTN3A2 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with BTN3A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A 1.1-Mb transcript map of the hereditary hemochromatosis locus. (PubMed id 9149941)1, 2, 3 Ruddy D.A.... Feder J.N. (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. (1997)
    3. 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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    6. The cluster of BTN genes in the extended major histocompatibility complex. (PubMed id 11170752)1, 2 Rhodes D.A.... Trowsdale J. (2001)
    7. BTN3A2 expression in epithelial ovarian cancer is asso ciated with higher tumor infiltrating T cells and a better prognosis. (PubMed id 22685580)1 Le Page C....Cailhier J.F. (2012)
    8. The molecular basis for modulation of human Vgamma9Vdelta2 T cell responses by CD277/butyrophilin-3 (BTN3A)-specific antibodies. (PubMed id 22846996)2 Palakodeti A.... Adams E.J. (2012)
    9. Key implication of CD277/butyrophilin-3 (BTN3A) in cellular stress sensing by a major human gammadelta T-cell subset. (PubMed id 22767497)2 Harly C.... Scotet E. (2012)
    10. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 11118 HGNC: 1139 AceView: BTN3A2 Ensembl:ENSG00000186470 euGenes: HUgn11118
    ECgene: BTN3A2 H-InvDB: BTN3A2

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for BTN3A2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for BTN3A2 gene:
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