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

BTN3A3 Gene

protein-coding   GIFtS: 47
GCID: GC06P026449

Butyrophilin, Subfamily 3, Member A3

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Butyrophilin, Subfamily 3, Member A31 2
BTF32 3 5
Butyrophilin 32
Butyrophilin Subfamily 3 Member A32

External Ids:    HGNC: 11401   Entrez Gene: 103842   Ensembl: ENSG000001118017   OMIM: 6135955   UniProtKB: O004783   

Export aliases for BTN3A3 gene to outside databases

Previous GC identifers: GC06P026498 GC06P026427 GC06P026548 GC06P026441 GC06P026384 GC06P026442 GC06P026443 GC06P026446 GC06P026447 GC06P026448


(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 BTN3A3 Gene:
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)

GeneCards Summary for BTN3A3 Gene: 
BTN3A3 (butyrophilin, subfamily 3, member A3) is a protein-coding gene. Diseases associated with BTN3A3 include hemochromatosis. An important paralog of this gene is BTN3A2.

UniProtKB/Swiss-Prot: BT3A3_HUMAN, O00478
Function: Plays a role in T-cell responses in the adaptive immune response

Gene Wiki entry for BTN3A3 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BTN3A3 gene promoter:
         p53   NF-kappaB   YY1   MEF-2A   POU2F1   POU2F1a   NF-kappaB2   STAT3   NF-kappaB1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBTN3A3 promoter sequence
   Search SABiosciences Chromatin IP Primers for BTN3A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTN3A3


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p22.2   HGNC cytogenetic band: 6p22.1

BTN3A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTN3A3 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P026449:  view genomic region     (about GC identifiers)

Start:
26,440,700 bp from pter      End:
26,453,643 bp from pter
Size:
12,944 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BT3A3_HUMAN, O00478 (See protein sequence)
Recommended Name: Butyrophilin subfamily 3 member A3 precursor  
Size: 584 amino acids; 65002 Da
Subunit: Homodimer
Subcellular location: Cell membrane; Single-pass type I membrane protein
1 PDB 3D structure from and Proteopedia for BTN3A3:
4F8T (3D)    
Secondary accessions: B4DWI7 E9PCP5
Alternative splicing: 2 isoforms:  O00478-1   O00478-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BTN3A3: NX_O00478

Explore proteomics data for BTN3A3 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00478

  • BTN3A3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BTN3A3 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001229732.1  NP_008925.1  NP_932078.2  

    ENSEMBL proteins: 
     ENSP00000417234   ENSP00000419312   ENSP00000244519   ENSP00000417717   ENSP00000355238  
     ENSP00000420339   ENSP00000420147   ENSP00000419736   ENSP00000419445   ENSP00000344968  

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    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--

    BTN3A3 for ontologies           About GeneDecksing



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

    5/10 InterPro protein domains (see all 10):
     IPR007110 Ig-like_dom
     IPR006574 PRY
     IPR003599 Ig_sub
     IPR001870 B30.2/SPRY
     IPR003877 SPRY_rcpt

    Graphical View of Domain Structure for InterPro Entry O00478

    ProtoNet protein and cluster: O00478

    4 Blocks protein domains:
    IPB003599 Immunoglobulin subtype
    IPB003879 Butyrophylin C-terminal DUF signature
    IPB006574 SPRY-associated domain
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: BT3A3_HUMAN, O00478
    Similarity: Belongs to the immunoglobulin superfamily. BTN/MOG family
    Similarity: Contains 1 B30.2/SPRY domain
    Similarity: Contains 2 Ig-like V-type (immunoglobulin-like) domains


    BTN3A3 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BT3A3_HUMAN, O00478
    Function: Plays a role in T-cell responses in the adaptive immune response

         Genatlas biochemistry entry for BTN3A3:
    butyrophilin subfamily 3,member A3,B box family of proteins,involved in cell proliferation and development

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    BTN3A3 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BTN3A3

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for BTN3A3 (ENSP000002445194) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARL8BENSP000002564964STRING: ENSP00000256496
    CTSLENSP000003453444STRING: ENSP00000345344
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002456T cell mediated immunity IMP--

    BTN3A3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 BTN3A3 (BT3A3)

    Search CenterWatch for drugs/clinical trials and news about BTN3A3 / BT3A3

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BTN3A3 gene (3 alternative transcripts): 
    NM_001242803.1  NM_006994.4  NM_197974.2  

    Unigene Cluster for BTN3A3:

    Butyrophilin, subfamily 3, member A3
    Hs.167741  [show with all ESTs]
    Unigene Representative Sequence: NM_006994
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000494393 ENST00000482451 ENST00000244519(uc003nhz.3 uc011dkn.2 uc021ynh.1)
    ENST00000471353 ENST00000361232 ENST00000474790 ENST00000487627 ENST00000496719
    ENST00000480110 ENST00000467524 ENST00000490254 ENST00000487272 ENST00000483179
    ENST00000477388 ENST00000497681 ENST00000339789
    miRNA
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    Additional mRNA sequence: 

    AK223279.1 AK223301.1 AK291722.1 AK301553.1 BC015815.2 BT007251.1 U90548.1 

    18 DOTS entries:

    DT.91838414  DT.100800862  DT.100799407  DT.91719140  DT.91845984  DT.121381011  DT.121381034  DT.121381117 
    DT.65285590  DT.92381252  DT.95375284  DT.121381024  DT.121381057  DT.422538  DT.87017064  DT.87017066 
    DT.91765456  DT.95160541 

    24/107 AceView cDNA sequences (see all 107):

    BM820421 BP345297 AA505847 AW273488 AA479322 AA825832 BQ646764 CB157746 
    AA731296 BX362684 AW779191 AI335723 CB268571 AW338105 AI571622 AA478585 
    BX095674 CO392914 BM769467 AA344281 AA234051 NM_006994 CO400795 BC015815 

    GeneLoc Exon Structure


    (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

    BTN3A3 expression in normal human tissues (normalized intensities)      BTN3A3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCACAGAT
    BTN3A3 Expression
    About this image


    BTN3A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             T Helper Cells Thymus
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             T Helper Cells Thymus

    See BTN3A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BTN3A3

    SOURCE GeneReport for Unigene cluster: Hs.167741

    UniProtKB/Swiss-Prot: BT3A3_HUMAN, O00478
    Tissue specificity: Detected in peripheral blood mononuclear cells and in T-cells (at protein level). Detected in
    spleen and lymphocytes

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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 BTN3A3 gene from 3/5 species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    oppossum
    (Monodelphis domestica)
    Mammalia --
    Uncharacterized protein
    18(a)
    1 → many
    4(347434995-347439357)
    chicken
    (Gallus gallus)
    Aves BTN1A16
    butyrophilin subfamily 1 member A1 precursor
    35(a)
    possible ortholog
    28(803320-808851)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    33(a)
    possible ortholog
    2(192939669-192949056)


    ENSEMBL Gene Tree for BTN3A3 (if available)
    TreeFam Gene Tree for BTN3A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BTN3A3 gene
    BTN3A22  BTN2A12  BTNL82  ERMAP2  BTN2A22  MOG2  BTN3A12  BTNL22  
    BTN1A12  BTNL32  BTNL92  
    18/23 SIMAP similar genes for BTN3A3 using alignment to 9 protein entries:     BT3A3_HUMAN (see all proteins) (see all similar genes):
    BTN3A2    BTN3A1    BT3.3    TRIM11    BTN2A1    BTN1A1
    BTNL9    MOG    SKINT1    BTN2A2    ERMAP    BTNL10
    BTNL2    TRIM69    TRIM27    BTN2A3P    RFPL3    BTNL3

    BTN3A3 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) 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

    10/385 SNPs in BTN3A3 are shown (see all 385)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs69079241,2
    C,F,A--26438817(+) tgggcT/Gcagtg 3 -- us2k1 tfbs312Minor allele frequency- G:0.39NA WA CSA EA 258
    rs1499139441,2
    --26438861(+) CGAAGC/TGGGCG 3 -- us2k10--------
    rs1385884721,2
    C--26438895(+) AGATC-/AGCCTG 3 -- us2k10--------
    rs1464477171,2
    --26438967(+) TGCCTA/GCAATC 3 -- us2k10--------
    rs1836911011,2
    --26439006(+) AATCGC/GTTGAA 3 -- us2k10--------
    rs1112350281,2
    C,F--26439087(+) TCTCCG/ATCTCA 3 -- us2k11Minor allele frequency- A:0.50NA 2
    rs122123181,2
    A--26439108(+) aaaaaG/Aaaaaa 3 -- us2k1 trp31Minor allele frequency- A:0.50CSA 2
    rs2017321481,2
    --26439108(+) AAAAA-/GAAAAA 3 -- us2k10--------
    rs1445715991,2
    C--26439216(+) GTTTCA/GTAAAA 3 -- us2k10--------
    rs69292481,2
    C,F,H--26439323(+) CTGTTG/AGGAAG 3 -- us2k1 trp312Minor allele frequency- A:0.04NS EA NA WA 1648

    HapMap Linkage Disequilibrium report for BTN3A3 (26440700 - 26453643 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for BTN3A3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2731730CNV Deletion23290073
    dgv6440n71CNV Loss21882294
    nsv528172CNV Loss19592680
    nsv883499CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613595    OMIM disorders: --

    2 diseases for BTN3A3:    About MalaCards
    hemochromatosis    


    BTN3A3 for disorders           About GeneDecksing


    Export disorders for BTN3A3 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 BTN3A3 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with BTN3A3)
        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. 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)
    3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    5. Structure and evolution of the extended B7 family. (PubMed id 10354554)1, 3 Henry J....Pontarotti P. (1999)
    6. 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)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10384 HGNC: 1140 AceView: BTN3A3 Ensembl:ENSG00000111801 euGenes: HUgn10384
    ECgene: BTN3A3 H-InvDB: BTN3A3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BTN3A3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BTN3A3 gene:
    Search GeneIP for patents involving BTN3A3

    GeneCards and IP:
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