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BST2 Gene

protein-coding   GIFtS: 58
GCID: GC19M017513

Bone Marrow Stromal Cell Antigen 2

  See BST2-related diseases
at
MalaCards
 

Aliases
for BST2 gene

(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
Bone Marrow Stromal Cell Antigen 21 2     TETHERIN2
BST-22 3     Bone Marrow Stromal Antigen 22
HM1.24 Antigen2 3     Tetherin3
CD3172     CD317 Antigen3
NPC-A-72     

External Ids:    HGNC: 11191   Entrez Gene: 6842   Ensembl: ENSG000001303037   OMIM: 6005345   UniProtKB: Q105893   

Export aliases for BST2 gene to outside databases

Previous GC identifers: GC19M018007 GC19M017906 GC19M017358 GC19M017374 GC19M017502 GC19M017080


Summaries
for BST2 gene

(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 BST2 Gene:
Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the
protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role
in pre-B-cell growth and in rheumatoid arthritis. (provided by RefSeq, Jul 2008)

GeneCards Summary for BST2 Gene:
BST2 (bone marrow stromal cell antigen 2) is a protein-coding gene. Diseases associated with BST2 include rheumatoid arthritis, and hiv-1. GO annotations related to this gene include metalloendopeptidase inhibitor activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: BST2_HUMAN, Q10589
Function: IFN-induced antiviral host restriction factor which efficiently blocks the release of diverse mammalian
enveloped viruses by directly tethering nascent virions to the membranes of infected cells. Acts as a direct
physical tether, holding virions to the cell membrane and linking virions to each other. The tethered virions can
be internalized by endocytosis and subsequently degraded or they can remain on the cell surface. In either case,
their spread as cell-free virions is restricted. Its target viruses belong to diverse families, including
retroviridae: human immunodeficiency virus type 1 (HIV-1), human immunodeficiency virus type 2 (HIV-2), simian
immunodeficiency viruses (SIVs), equine infectious anemia virus (EIAV), feline immunodeficiency virus (FIV),
prototype foamy virus (PFV), Mason-Pfizer monkey virus (MPMV), human T-cell leukemia virus type 1 (HTLV-1), Rous
sarcoma virus (RSV) and murine leukemia virus (MLV), flavivirideae: hepatitis C virus (HCV), filoviridae: ebola
virus (EBOV) and marburg virus (MARV), arenaviridae: lassa virus (LASV) and machupo virus (MACV), herpesviridae:
kaposis sarcoma-associated herpesvirus (KSHV), rhabdoviridae: vesicular stomatitis virus (VSV), orthomyxoviridae:
influenza A virus, and paramyxoviridae: nipah virus. Can inhibit cell surface proteolytic activity of MMP14
causing decreased activation of MMP15 which results in inhibition of cell growth and migration. Can stimulate
signaling by LILRA4/ILT7 and consequently provide negative feedback to the production of IFN by plasmacytoid
dendritic cells in response to viral infection. Plays a role in the organization of the subapical actin
cytoskeleton in polarized epithelial cells. Isoform 1 and isoform 2 are both effective viral restriction factors
but have differing antiviral and signaling activities. Isoform 2 is resistant to HIV-1 Vpu-mediated degradation
and restricts HIV-1 viral budding in the presence of Vpu. Isoform 1 acts as an activator of NF-kappa-B and this
activity is inhibited by isoform 2

Gene Wiki entry for BST2 (Tetherin) Gene


Genomic Views
for BST2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the BST2 gene promoter:
         STAT1   AP-1   ATF-2   STAT1beta   CUTL1   STAT1alpha   PPAR-gamma1   PPAR-gamma2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BST2 promoter sequence
   Search Chromatin IP Primers for BST2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BST2


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

Entrez Gene cytogenetic band: 19p13.1   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.2

BST2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BST2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M017513:  view genomic region     (about GC identifiers)

Start:
 17,513,748 bp from pter      End:
 17,516,457 bp from pter
Size:
 2,710 bases      Orientation:
 minus strand

Proteins
for BST2 gene

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BST2_HUMAN, Q10589 (See protein sequence)
Recommended Name: Bone marrow stromal antigen 2 precursor  
Size: 180 amino acids; 19769 Da
Subunit: Parallel homodimer; disulfide-linked. May form homotetramers under reducing conditions. Isoform 1 and
isoform 2 form homodimers and also heterodimers with each other. Dimerization is essential for its antiviral
activity. Interacts (via cytoplasmic domain) with ARHGAP44 (By similarity). Interacts with MMP14 (via C-terminal
cytoplasmic tail). Interacts with LILRA4/ILT7. Interacts (via transmembrane domain) with HIV-1 VPU (via
transmembrane domain). Interacts with HIV-2 ENV and ebola GP protein
Miscellaneous: Tetherin shows evidence of positive (adaptive) selection, presumably as a result of evolutionary
pressure applied by antagonistic viral proteins that counteract its inhibitiory activity and this has led to the
species-specific tetherin sensitivity to viral countermeasures. For example, Tantalus monkey tetherin cannot be
abrogated by HIV-1 VPU due to variation in the tetherin transmembrane region. Similarly, SIV Nefs are able to
overcome simian tetherins, but not human tetherin, due to a unique 5-amino-acid deletion in the cytoplasmic tail
domain of human tetherin (PubMed:19917491)
Selected PDB 3D structures from and Proteopedia for BST2 (see all 8):
2LK9 (3D)        2X7A (3D)        2XG7 (3D)        3MQ7 (3D)        3MQ9 (3D)        3MQB (3D)    
Secondary accessions: A8K4Y4 Q53G07
Alternative initiation: 2 isoforms:  Q10589-1   Q10589-2   (Produced by alternative initiation at Met-13 of isoform 1)

Explore the universe of human proteins at neXtProt for BST2: NX_Q10589

Explore proteomics data for BST2 at MOPED

Post-translational modifications: 

  • Monoubiquitinated by KSHV E3 ubiquitin-protein ligase K5, leading to its targeting to late endosomes and
    degradation1
  • The GPI anchor is essential for its antiviral activity1
  • Ubiquitination2 at Lys18
  • Glycosylation2 at Asn65, Asn92, Thr121, Thr122, Ser131
  • Modification sites at PhosphoSitePlus

    • See BST2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004326.1  
    ENSEMBL proteins: 
     ENSP00000252593  

    BST2 Human Recombinant Protein Products:

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    OriGene Purified Protein for BST2
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    Novus Biologicals BST2 Lysates
    Sino Biological Recombinant Protein for BST2
    Sino Biological Cell Lysate for BST2
    ProSpec Recombinant Protein for BST2
    Cloud-Clone Corp. Proteins for BST2

         		 Search eBioscience for Proteins for BST2 

         		antibodies-online proteins for BST2 (15 products) 

         		antibodies-online peptides for BST2

    BST2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of BST2
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    Abcam antibodies for BST2
    Cloud-Clone Corp. Antibodies for BST2
    ThermoFisher Antibodies for BST2
    antibodies-online antibodies for BST2 (88 products) 

    BST2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for BST2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for BST2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BST2
    Cloud-Clone Corp. CLIAs for BST2
    Search eBioscience for ELISAs for BST2 
    antibodies-online kits for BST2 (8 products) 

    Domains /
    Families
    for BST2 gene

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

    TryGeneCards Plus    		 HGNC Gene Families:
    CD: CD molecules

    1 InterPro protein domain:
     IPR024886 BST2

    Graphical View of Domain Structure for InterPro Entry Q10589

    ProtoNet protein and cluster: Q10589

    UniProtKB/Swiss-Prot: BST2_HUMAN, Q10589
    Domain: The extracellular coiled coil domain forms an extended 170 A long semi-flexible rod-like structure
    important for virion retention at the cell surface and prevention of virus spreading
    Similarity: Belongs to the tetherin family


    Find genes that share domains with BST2           About GenesLikeMe


    Function
    for BST2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BST2_HUMAN, Q10589
    Function: IFN-induced antiviral host restriction factor which efficiently blocks the release of diverse mammalian
    enveloped viruses by directly tethering nascent virions to the membranes of infected cells. Acts as a direct
    physical tether, holding virions to the cell membrane and linking virions to each other. The tethered virions can
    be internalized by endocytosis and subsequently degraded or they can remain on the cell surface. In either case,
    their spread as cell-free virions is restricted. Its target viruses belong to diverse families, including
    retroviridae: human immunodeficiency virus type 1 (HIV-1), human immunodeficiency virus type 2 (HIV-2), simian
    immunodeficiency viruses (SIVs), equine infectious anemia virus (EIAV), feline immunodeficiency virus (FIV),
    prototype foamy virus (PFV), Mason-Pfizer monkey virus (MPMV), human T-cell leukemia virus type 1 (HTLV-1), Rous
    sarcoma virus (RSV) and murine leukemia virus (MLV), flavivirideae: hepatitis C virus (HCV), filoviridae: ebola
    virus (EBOV) and marburg virus (MARV), arenaviridae: lassa virus (LASV) and machupo virus (MACV), herpesviridae:
    kaposis sarcoma-associated herpesvirus (KSHV), rhabdoviridae: vesicular stomatitis virus (VSV), orthomyxoviridae:
    influenza A virus, and paramyxoviridae: nipah virus. Can inhibit cell surface proteolytic activity of MMP14
    causing decreased activation of MMP15 which results in inhibition of cell growth and migration. Can stimulate
    signaling by LILRA4/ILT7 and consequently provide negative feedback to the production of IFN by plasmacytoid
    dendritic cells in response to viral infection. Plays a role in the organization of the subapical actin
    cytoskeleton in polarized epithelial cells. Isoform 1 and isoform 2 are both effective viral restriction factors
    but have differing antiviral and signaling activities. Isoform 2 is resistant to HIV-1 Vpu-mediated degradation
    and restricts HIV-1 viral budding in the presence of Vpu. Isoform 1 acts as an activator of NF-kappa-B and this
    activity is inhibited by isoform 2
    Induction: By type I interferons. Down-regulated by viral antagonistic factors which include: HIV-1 VPU protein,
    HIV-2 ENV protein, KSHV K5 protein and ebola virus GP protein. VPU and ENV antagonize its function by targeting
    it to the trans-Golgi network, sequestering it away from virus assembly sites on the cell membrane. VPU also acts
    as an adapter molecule linking it to BTRC, a substrate recognition subunit of the Skp1/Cullin/F-box protein E3
    ubiquitin ligase, inducing its ubiquitination and subsequent proteasomal degradation. K5 ubiquitinates it leading
    to its targeting to late endosomes and degradation

         Genatlas biochemistry entry for BST2:
    bone marrow stromal antigen 2,involved in pre-B-cell growth,36kDa,expressed in various tissues

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IMP12761501
    GO:0005515protein binding IPI19564354
    GO:0008191metalloendopeptidase inhibitor activity IDA--
    GO:0042803protein homodimerization activity IPI--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with BST2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for BST2:
     Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Bst2):
     cellular  hematopoietic system  immune system  no phenotypic analysis 

    Find genes that share phenotypes with BST2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Bst2tm1.1Bsz for BST2

       genOway: Develop your customized and physiologically relevant rodent model for BST2

    miRNA
    Products:            		Block miRNA regulation of human, mouse, rat BST2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate BST2
    SwitchGear 3'UTR luciferase reporter plasmid: BST2 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for BST2
    Predesigned siRNA for gene silencing in human, mouse, rat BST2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for BST2

    Clone
    Products:             		 OriGene clones in human, mouse for BST2 (see all 7)
    OriGene ORF clones in mouse, rat for BST2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BST2 (NM_004335)
    Sino Biological Human cDNA Clone for BST2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BST2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BST2
    Addgene plasmids for BST2 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for BST2 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BST2


    Localization
    for BST2 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

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    Subcellular locations from UniProtKB/Swiss-Prot
    BST2_HUMAN, Q10589: Golgi apparatus, trans-Golgi network. Cell membrane; Single-pass type II membrane protein.
    Cell membrane; Lipid-anchor, GPI-anchor. Late endosome. Membrane raft. Cytoplasm. Apical cell membrane (By
    similarity). Note=Shuttles between the cell membrane, where it is present predominantly in membrane/lipid rafts,
    and the trans-Golgi network. HIV-1 VPU and HIV-2 ENV can target it to the trans-Golgi network thus sequestering
    it away from virus assembly sites on the cell membrane. Targeted to late endosomes upon KSHV infection and
    subsequent ubiquitination. Forms a complex with MMP14 and localizes to the cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    plasma membrane5
    golgi apparatus3
    nucleus2
    cytosol1
    endoplasmic reticulum1
    extracellular1
    lysosome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737colocalizes with cytoplasm IDA--
    GO:0005770late endosome IEA--
    GO:0005794Golgi apparatus IDA--
    GO:0005886plasma membrane IDA--

    Find genes that share ontologies with BST2           About GenesLikeMe


    Pathways & Interactions
    for BST2 gene

    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including BST2: 
              Type I Interferon Response in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for BST2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for BST2 (Q105892, 3 ENSP000002525934) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    BTRCQ9Y2973I2D: score=1 
    LILRA4P599013I2D: score=1 
    TFRCP027863I2D: score=1 
    ENAMENSP000003793834STRING: ENSP00000379383
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002737negative regulation of plasmacytoid dendritic cell cytokine production IDA19564354
    GO:0006959humoral immune response TAS7607676
    GO:0007165signal transduction IMP12761501
    GO:0007267cell-cell signaling TAS7607676
    GO:0007275multicellular organismal development TAS7607676

    Find genes that share ontologies with BST2           About GenesLikeMe



    Drugs & Compounds
    for BST2 gene

    (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 BST2



    Transcripts
    for BST2 gene

    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BST2 gene: 
    NM_004335.3  

    Unigene Cluster for BST2:

    Bone marrow stromal cell antigen 2
    Hs.118110  [show with all ESTs]
    Unigene Representative Sequence: BQ679629
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252593(uc002ngl.3) ENST00000533098 ENST00000527220
    miRNA
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    Inhib. RNA
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for BST2
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      QuantiFast Probe-based Assays in human, mouse, rat BST2

    Additional mRNA sequence: 

    AK223124.1 AK291099.1 AK303593.1 AY320400.1 AY320402.1 BC033873.1 D28137.1 

    9 DOTS entries:

    DT.75161707  DT.101973854  DT.91757455  DT.97819337  DT.100796120  DT.102829816  DT.91757448  DT.95150545 
    DT.95370619 

    Selected AceView cDNA sequences (see all 399):

    BI819604 BI836883 BI223714 BQ957470 BM829102 BG385866 BI762508 CK822727 
    BQ057827 BX481937 BU595585 BU855701 BF971297 BI835417 BQ050050 BM766483 
    BQ712639 BF978915 BQ878379 BM727155 CR609450 BM784895 AI914688 BG745305 

    GeneLoc Exon Structure


    Expression
    for BST2 gene

    (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)
    About This Section

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    BST2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTGCCTGT
    BST2 Expression
    About this image


    BST2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 4 entries
             Human embryonic stem cells (family)
     
     Blood (Hematopoietic System)
             Plasmacytoid Dendritic cells Peripheral Blood
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Endoderm (Gastrulation Derivatives)
             Definitive endoderm-like cells
     
     Kidney (Urinary System)
    BST2 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    BST2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.118110

    UniProtKB/Swiss-Prot: BST2_HUMAN, Q10589
    Tissue specificity: Predominantly expressed in liver, lung, heart and placenta. Lower levels in pancreas, kidney,
    skeletal muscle and brain. Overexpressed in multiple myeloma cells. Highly expressed during B-cell development,
    from pro-B precursors to plasma cells. Highly expressed on T-cells, monocytes, NK cells and dendritic cells (at
    protein level)

        Pathway & Disease-focused RT2 Profiler PCR Array including BST2: 
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BST2

    Orthologs
    for BST2 gene

    (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

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    This gene was present in the common ancestor of human and mouse.

    Orthologs for BST2 gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Bst25 bone marrow stromal cell antigen 2   --   8 (34.43 cM) 71534264 


    ENSEMBL Gene Tree for BST2 (if available)
    TreeFam Gene Tree for BST2 (if available)

    Paralogs
    for BST2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Genomic Variants
    for BST2 gene

    (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 BST2 (see all 34)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1137246881,2
    		F--17445510(+) GAAACG/AGTGAG 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1503500571,2
    		C--17445564(+) CAAGGG/TCTGGG 1 -- ds50010--------
    rs23036831,2
    		C,F,A,H--17445694(-) TTAGTC/ACCCAA 1 -- ds500130Minor allele frequency- A:0.23EA NS NA WA CSA 4276
    rs22455191,2
    		C,F,A,H--17445728(-) CACCTT/GACTCT 1 -- ds500124Minor allele frequency- G:0.29EA NS NA WA CSA 3838
    rs10543241,2
    		C--17445782(-) TTTTTT/CTGGGG 1 -- ut31 ese32Minor allele frequency- C:0.17MN NA 186
    rs1996841361,2
    		C--17445793(+) AGCAA-/CCCCCC 1 -- ut310--------
    rs134851,2
    		C,F,A--17445905(-) CAGAGC/GCTCCC 1 -- ut31 ese38Minor allele frequency- G:0.21MN NA CSA WA EA 736
    rs95761,2
    		C,F,A,H--17445960(-) TGGGGC/AAGTCC 1 -- ut3125Minor allele frequency- A:0.23EA MN NS NA WA CSA 3928
    rs10542311,2
    		H--17446022(-) GGTTAG/ACGGGG 1 -- ut31 ese36Minor allele frequency- A:0.01MN NS EA NA 586
    rs1122074491,2
    		C--17446030(+) CCGTGT/-TTGCC 1 -- ut311Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for BST2 (17513748 - 17516457 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for BST2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv911182CNV Loss21882294
    nsv911198CNV Loss21882294
    nsv833768CNV Loss17160897
    nsv911201CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BST2
    DNA2.0 Custom Variant and Variant Library Synthesis for BST2

    Disorders / Diseases
    for BST2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus    		 OMIM gene information: 600534    OMIM disorders: --

    4 diseases for BST2:    
    About MalaCards
    rheumatoid arthritis    hiv-1    west nile encephalitis    hiv/aids

    2 inferred disease relationships from the University of Copenhagen DISEASES database for BST2:
    Multiple myeloma     West Nile encephalitis

    Find genes that share disorders with BST2           About GenesLikeMe

    1 Novoseek inferred disease relationship for BST2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    immunodeficiency 31.2 8 20078884 (1), 19605472 (1), 20147395 (1)

    Genetic Association Database (GAD): BST2
    Human Genome Epidemiology (HuGE) Navigator: BST2 (2 documents)

    Export disorders for BST2 gene to outside databases

    Publications
    for BST2 gene

    (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 BST2 gene, integrated from 10 sources (see all 227):
    (articles sorted by number of sources associating them with BST2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and chromosomal mapping of a bone marrow stromal cell surface gene, BST2, that may be involved in pre-B-cell growth. (PubMed id 7607676)1, 2, 3, 9 Ishikawa J.... Hirano T. (Genomics 1995)
    2. The formation of cysteine-linked dimers of BST-2/tetherin is important for inhibition of HIV-1 virus release but not for sensitivity to Vpu. (PubMed id 19737401)1, 2, 9 Andrew A.J.... Strebel K. (Retrovirology 2009)
    3. Regulation of TLR7/9 responses in plasmacytoid dendritic cells by BST2 and ILT7 receptor interaction. (PubMed id 19564354)1, 2, 9 Cao W....Liu Y.J. (J. Exp. Med. 2009)
    4. HIV-1 accessory protein Vpu internalizes cell-surface BST-2/tetherin through transmembrane interactions leading to lysosomes. (PubMed id 19837671)1, 2, 9 Iwabu Y.... Tokunaga K. (J. Biol. Chem. 2009)
    5. Vpu and BST2: still not there yet? (PubMed id 22509177)1, 2 Sato K.... Koyanagi Y. (Front. Microbiol. 2012)
    6. Identification of alternatively translated Tetherin isoforms with differing antiviral and signaling activities. (PubMed id 23028328)1, 2 Cocka L.J. and Bates P. (PLoS Pathog. 2012)
    7. Modulation of hepatitis C virus release by the interferon-induced protein BST-2/tetherin. (PubMed id 22520941)1, 2 Dafa-Berger A.... Taube R. (Virology 2012)
    8. Restriction of retroviral replication by tetherin/BST-2. (PubMed id 22811908)1, 2 Hammonds J.... Spearman P. (Mol. Biol. Int. 2012)
    9. Antiviral inhibition of enveloped virus release by tetherin/BST-2: action and counteraction. (PubMed id 21994744)1, 2 Le Tortorec A.... Neil S.J. (Viruses 2011)
    10. structural basis for the antiviral activity of Bst-2/tetherin and its viral antagonism. (PubMed id 22180752)1, 2 Arias J.F.... Tokunaga K. (Front. Microbiol. 2011)

    External Searches for BST2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing BST2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 684 HGNC: 1119 AceView: BST2 Ensembl:ENSG00000130303 euGenes: HUgn684
    ECgene: BST2 H-InvDB: BST2

    Other Databases showing BST2 gene

    (According to HUGE)
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    Specialized Databases showing BST2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BST2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for BST2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for BST2 gene:
    Search GeneIP for patents involving BST2

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



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