Human Gene BST2 (uc002ngl.3)
  Description: Homo sapiens bone marrow stromal cell antigen 2 (BST2), mRNA.
RefSeq Summary (NM_004335): 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].
Transcript (Including UTRs)
   Position: hg19 chr19:17,513,755-17,516,384 Size: 2,630 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr19:17,514,504-17,516,384 Size: 1,881 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:17,513,755-17,516,384)mRNA (may differ from genome)Protein (180 aa)
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-  Comments and Description Text from UniProtKB
  ID: BST2_HUMAN
DESCRIPTION: RecName: Full=Bone marrow stromal antigen 2; Short=BST-2; AltName: Full=HM1.24 antigen; AltName: Full=Tetherin; AltName: CD_antigen=CD317; Flags: Precursor;
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.
SUBUNIT: Parallel homodimer; disulfide-linked. May form homotetramers under reducing conditions. 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.
SUBCELLULAR LOCATION: 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.
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).
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.
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.
PTM: Monoubiquitinated by KSHV E3 ubiquitin-protein ligase K5, leading to its targeting to late endosomes and degradation.
PTM: The GPI anchor is essential for its antiviral activity.
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).
SIMILARITY: Belongs to the tetherin family.

-  Primer design for this transcript
 

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-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BST2
CDC HuGE Published Literature: BST2

-  MalaCards Disease Associations
  MalaCards Gene Search: BST2
Diseases sorted by gene-association score: hiv-1 (9), stomatitis (9), chikungunya (9), multiple myeloma (8), west nile encephalitis (8), ebola hemorrhagic fever (6), human t-cell leukemia virus type 1 (5), hepatitis c virus (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 535.84 RPKM in Ovary
Total median expression: 3213.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -173.37396-0.438 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR024886 - BST2

Pfam Domains:
PF16716 - Bone marrow stromal antigen 2

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2LK9 - NMR MuPIT 2X7A - X-ray MuPIT 2XG7 - X-ray MuPIT 3MQ7 - X-ray MuPIT 3MQ9 - X-ray MuPIT 3MQB - X-ray MuPIT 3MQC - X-ray MuPIT 3NWH - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q10589
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008191 metalloendopeptidase inhibitor activity
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0002376 immune system process
GO:0002737 negative regulation of plasmacytoid dendritic cell cytokine production
GO:0006959 humoral immune response
GO:0007267 cell-cell signaling
GO:0007275 multicellular organism development
GO:0008283 cell proliferation
GO:0009615 response to virus
GO:0010951 negative regulation of endopeptidase activity
GO:0030308 negative regulation of cell growth
GO:0030336 negative regulation of cell migration
GO:0032956 regulation of actin cytoskeleton organization
GO:0034341 response to interferon-gamma
GO:0035455 response to interferon-alpha
GO:0035456 response to interferon-beta
GO:0042113 B cell activation
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043312 neutrophil degranulation
GO:0045071 negative regulation of viral genome replication
GO:0045087 innate immune response
GO:0051607 defense response to virus
GO:0060337 type I interferon signaling pathway
GO:1901253 negative regulation of intracellular transport of viral material

Cellular Component:
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005770 late endosome
GO:0005771 multivesicular body
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0031225 anchored component of membrane
GO:0035577 azurophil granule membrane
GO:0045121 membrane raft
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK303593 - Homo sapiens cDNA FLJ59809 complete cds, highly similar to Bone marrow stromal antigen 2.
AK291099 - Homo sapiens cDNA FLJ77629 complete cds, highly similar to Homo sapiens bone marrow stromal cell antigen 2 (BST2), mRNA.
D28137 - Homo sapiens mRNA for BST-2, complete cds.
E09710 - cDNA encoding human membrane protein polypeptide which have pre B cell growth supporting ability.
LF384391 - JP 2014500723-A/191894: Polycomb-Associated Non-Coding RNAs.
LF372738 - JP 2014500723-A/180241: Polycomb-Associated Non-Coding RNAs.
AY320400 - Homo sapiens nasopharyngeal carcinoma-associated antigen mRNA sequence.
AY320402 - Homo sapiens nasopharyngeal carcinoma-associated antigen NPC-A-7 mRNA, complete cds.
BC033873 - Homo sapiens bone marrow stromal cell antigen 2, mRNA (cDNA clone MGC:45144 IMAGE:5217945), complete cds.
AK223124 - Homo sapiens mRNA for bone marrow stromal cell antigen 2 variant, clone: KAT11101.
LF372739 - JP 2014500723-A/180242: Polycomb-Associated Non-Coding RNAs.
JD154267 - Sequence 135291 from Patent EP1572962.
JD389540 - Sequence 370564 from Patent EP1572962.
JD547980 - Sequence 529004 from Patent EP1572962.
JD024490 - Sequence 5514 from Patent EP1572962.
JD488348 - Sequence 469372 from Patent EP1572962.
JD141513 - Sequence 122537 from Patent EP1572962.
JD442245 - Sequence 423269 from Patent EP1572962.
JD020846 - Sequence 1870 from Patent EP1572962.
JD298074 - Sequence 279098 from Patent EP1572962.
JD419642 - Sequence 400666 from Patent EP1572962.
CU689786 - Synthetic construct Homo sapiens gateway clone IMAGE:100018157 5' read BST2 mRNA.
KJ890782 - Synthetic construct Homo sapiens clone ccsbBroadEn_00176 BST2 gene, encodes complete protein.
LF372740 - JP 2014500723-A/180243: Polycomb-Associated Non-Coding RNAs.
JD020868 - Sequence 1892 from Patent EP1572962.
JD031664 - Sequence 12688 from Patent EP1572962.
MA619968 - JP 2018138019-A/191894: Polycomb-Associated Non-Coding RNAs.
MA608315 - JP 2018138019-A/180241: Polycomb-Associated Non-Coding RNAs.
MA608316 - JP 2018138019-A/180242: Polycomb-Associated Non-Coding RNAs.
MA608317 - JP 2018138019-A/180243: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q10589 (Reactome details) participates in the following event(s):

R-HSA-6798739 Exocytosis of azurophil granule membrane proteins
R-HSA-909733 Interferon alpha/beta signaling
R-HSA-6798695 Neutrophil degranulation
R-HSA-913531 Interferon Signaling
R-HSA-168249 Innate Immune System
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4Y4, BST2_HUMAN, NM_004335, NP_004326, Q10589, Q53G07
UCSC ID: uc002ngl.3
RefSeq Accession: NM_004335
Protein: Q10589 (aka BST2_HUMAN)
CCDS: CCDS12358.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004335.2
exon count: 5CDS single in 3' UTR: no RNA size: 983
ORF size: 543CDS single in intron: no Alignment % ID: 99.89
txCdsPredict score: 1277.00frame shift in genome: no % Coverage: 95.52
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.