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

BTN3A1 Gene

protein-coding   GIFtS: 51
GCID: GC06P026402

butyrophilin, subfamily 3, member A1

 Explore 5 diseases affiliated with
BTN3A1 via our new
 Human Malady Compendium 
Biological research products
for BTN3A1
    

(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 A11 2     Butyrophilin Subfamily 3 Member A12
BTF51 2 3 5     DJ45P21.3 (Butyrophilin, Subfamily 3, Member A1)2
CD2771 2 5     CD277 Antigen3
BT3.11 2     

External Ids:    HGNC: 11381   Entrez Gene: 111192   Ensembl: ENSG000000269507   OMIM: 6135935   UniProtKB: O004813   

Export aliases for BTN3A1 gene to outside databases

Previous GC identifers: GC06P026460 GC06P026465 GC06P026510 GC06P026345


(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 BTN3A1:
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., BNT3A1) 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)

UniProtKB/Swiss-Prot: BT3A1_HUMAN, O00481
Function: Plays a role in T-cell activation and in the adaptive immune response. Regulates the proliferation of
activated T-cells. Regulates the release of cytokines and IFNG by activated T-cells. Mediates the response of T-cells
toward infected and transformed cells that are characterized by high levels of phosphorylated metabolites, such as
isopentenyl pyrophosphate

Gene Wiki entry for BTN3A1 (Butyrophilin, subfamily 3, member A1)


(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 BTN3A1 gene promoter:
         Elk-1   p53   MyoD   NF-kappaB   POU2F1   NF-kappaB2   POU2F1a   STAT3   NF-kappaB1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBTN3A1 promoter sequence
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTN3A1


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

BTN3A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTN3A1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P026402:  view genomic region     (about GC identifiers)

Start:
26,402,465 bp from pter      End:
26,415,444 bp from pter
Size:
12,980 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: BT3A1_HUMAN, O00481 (See protein sequence)
Recommended Name: Butyrophilin subfamily 3 member A1 precursor  
Size: 513 amino acids; 57677 Da
Subunit: Homodimer
Subcellular location: Cell membrane; Single-pass type I membrane protein
Sequence caution: Sequence=CAA69164.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
3 PDB 3D structures from and Proteopedia for BTN3A1:
4F80 (3D)        4F9L (3D)        4F9P (3D)    
Secondary accessions: A2A278 A8K2C8 B4DIQ1 B4DRM2 E9PGB4 E9PHG8 Q0P515 Q147X5 Q53F15 Q99420 Q9HCY1
Alternative splicing: 4 isoforms:  O00481-1   O00481-2   O00481-3   O00481-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BTN3A1: NX_O00481

Post-translational modifications:

  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00481

  • BTN3A1 Protein expression data from MOPED and PaxDb:    About this image 
    BTN3A1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001138480.1  NP_001138481.1  NP_008979.3  NP_919423.1  

    ENSEMBL proteins: 
     ENSP00000420010   ENSP00000289361   ENSP00000394937   ENSP00000396684   ENSP00000399393  
     ENSP00000427013   ENSP00000406667  

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    Uscn Proteins for BTN3A1

    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--

    BTN3A1 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

    BTN3A1 for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     IPR007110 Ig-like_dom
     IPR006574 PRY
     IPR013162 CD80_C2-set
     IPR003599 Ig_sub
     IPR001870 B30.2/SPRY

    Graphical View of Domain Structure for InterPro Entry O00481

    ProtoNet protein and cluster: O00481

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


    UniProtKB/Swiss-Prot: BT3A1_HUMAN, O00481
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BT3A1_HUMAN, O00481
    Function: Plays a role in T-cell activation and in the adaptive immune response. Regulates the proliferation of
    activated T-cells. Regulates the release of cytokines and IFNG by activated T-cells. Mediates the response of T-cells
    toward infected and transformed cells that are characterized by high levels of phosphorylated metabolites, such as
    isopentenyl pyrophosphate

         Genatlas biochemistry entry for BTN3A1:
    butyrophilin subfamily 3,member A1,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 IPI--
         
    BTN3A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BTN3A1:
     Low eccentricity cells 

    Animal Models:
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTN3A1


    (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 BTN3A1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for BTN3A1 (O004811 ENSP000002893614) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TFF1P041551, ENSP000002915274EBI-2809309,EBI-743871 STRING: ENSP00000291527
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0050663cytokine secretion IDA--
    GO:0050798activated T cell proliferation IMP--
    GO:0050852T cell receptor signaling pathway IDA--
    GO:0072643interferon-gamma secretion IMP--

    BTN3A1 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 BTN3A1
    Search CenterWatch for drugs/clinical trials and news about BTN3A1 / BT3A1 

    (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,
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    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 BTN3A1 gene (4 alternative transcripts): 
    NM_001145008.1  NM_001145009.1  NM_007048.5  NM_194441.2  

    Unigene Cluster for BTN3A1:

    Butyrophilin, subfamily 3, member A1
    Hs.191510  [show with all ESTs]
    Unigene Representative Sequence: NM_001145009
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000476549 ENST00000289361(uc011dkj.2 uc010jqj.3 uc003nhv.3 uc011dkk.2)
    ENST00000465690 ENST00000450085 ENST00000425234 ENST00000427334 ENST00000506698
    ENST00000414912 ENST00000082468 ENST00000513047 ENST00000502361

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    Additional cDNA sequence: 

    AK223474.1 AK290193.1 AK291162.1 AK295720.1 AK298652.1 AK299327.1 BC118586.1 BC121800.1 
    U90552.2 Y07827.1 

    15 DOTS entries:

    DT.65285590  DT.92446082  DT.102836536  DT.87017065  DT.95160550  DT.121381040  DT.91918557  DT.121381126 
    DT.95242557  DT.100800856  DT.100815709  DT.121381038  DT.121381066  DT.87017067  DT.95160541 

    24/66 AceView cDNA sequences (see all 66):

    BU147474 AA977088 AW805800 CR595855 CB268433 AI863274 NM_007048 AI680403 
    BF516542 BQ933401 BU178206 CA309315 CB148209 BX459745 AA593110 BU150507 
    AW574553 AA666140 BC065567 BQ881300 BE675933 BG340407 BF870258 AI565435 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for BTN3A1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6
    SP1:              -                                 
    SP2:                                                
    SP3:                                                
    SP4:              -     -                           


    ECgene alternative splicing isoforms for BTN3A1

    (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

    BTN3A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCTTGTCAA
    BTN3A1 Expression
    About this image
    See BTN3A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BTN3A1

    SOURCE GeneReport for Unigene cluster: Hs.191510

    UniProtKB/Swiss-Prot: BT3A1_HUMAN, O00481
    Tissue specificity: Detected on T-cells, natural killer cells, dendritic cells and macrophages (at protein level).
    Ubiquitous. Highly expressed in heart, pancreas and lung, Moderately expressed in placenta, liver and muscle

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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 BTN3A1 gene from 1/3 species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii CR846080.16
    si:ch73-137d22.16
    (see all 4)
    si:ch73-137d22.1
    (see all 4)
    27(a)
    27(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    3(10159205-10165964)
    3(9754282-9794536)


    ENSEMBL Gene Tree for BTN3A1 (if available)
    TreeFam Gene Tree for BTN3A1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BTN3A1 gene
    BTN3A22  BTN2A12  BTNL82  ERMAP2  BTN3A32  BTN2A22  HHLA22  CD2762  
    BTNL102  MOG2  BTNL22  VTCN12  BTN1A12  BTNL92  BTNL32  
    15 SIMAP similar genes for BTN3A1 using alignment to 4 protein entries:     BT3A1_HUMAN (see all proteins):
    BTN3A2    BTN3A3    BT3.3    MOG    BTNL10    BTN2A1
    BTNL9    BTN1A1    BTN2A2    BTNL2    CD276    ERMAP
    BTN2A3P    BTNL3    BTNL8

    BTN3A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BTN3A1
    PGOHUM00000247830


    (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

    10/299 NCBI SNPs in BTN3A1 are shown (see all 299    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1831897801,2
    --26400545(+) ACAGCA/GTGCCA 4 -- us2k10--------
    rs94677551,2
    C,F,H--26400550(+) ATGCCA/GCTGCA 4 -- us2k17Minor allele frequency- G:0.16NS EA WA CSA 413
    rs801533431,2
    --26400806(+) GCTGGA/GGAGGA 4 -- us2k10--------
    rs1998228861,2
    --26400896(+) TCTTG-/TTTTTT 4 -- us2k10--------
    rs1870785221,2
    --26400918(+) TTGTTC/TTGTTT 4 -- us2k10--------
    rs1441282841,2
    --26400945(+) CAGGTA/GGTTGC 4 -- us2k10--------
    rs1399347251,2
    --26401074(+) AGGGCC/TGCTGC 4 -- us2k10--------
    rs1918869461,2
    --26401180(+) GGATCC/TCTTGG 4 -- us2k10--------
    rs17417381,2
    C,F,H--26401252(+) CTGCTA/GTCTAC 4 -- us2k1 tfbs318Minor allele frequency- G:0.07MN NS EA NA 2582
    rs728429761,2
    C--26401391(+) ACAATA/TTAATT 4 -- us2k12Minor allele frequency- T:0.04NA 122

    HapMap Linkage Disequilibrium report for BTN3A1 (26402465 - 26415444 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BTN3A1: --

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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

    BTN3A1 for disorders           About GeneDecksing

    OMIM gene information: 613593    OMIM disorders: --

    5 diseases for BTN3A1:    About MalaCards
    intrahepatic cholangiocarcinoma    hemochromatosis    cholangiocarcinoma    ovarian cancer
    schizophrenia

    Human Genome Epidemiology (HuGE) Navigator: BTN3A1 (1 document)

    Export disorders for BTN3A1 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 BTN3A1 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with BTN3A1)
        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 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. (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. (2012)
    5. Differential role for CD277 as a co-regulator of the i mmune signal in T and NK cells. (PubMed id 21918970)1, 2 Messal N....Olive D. (2011)
    6. CD277 is a negative co-stimulatory molecule universal ly expressed by ovarian cancer microenvironmental cells. (PubMed id 21113407)1, 2 Cubillos-Ruiz J.R....Conejo-Garcia J.R. (2010)
    7. 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)
    8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    9. 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)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (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)
    About This Section
    Entrez Gene: 11119 HGNC: 1138 AceView: BTN3A1 Ensembl:ENSG00000026950 euGenes: HUgn11119
    ECgene: BTN3A1 H-InvDB: BTN3A1

    (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 BTN3A1 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 BTN3A1 gene:
    Search GeneIP for patents involving BTN3A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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