Atlas of Genetics and Cytogenetics in Oncology and Haematology

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BST2 (bone marrow stromal cell antigen 2)

Identity

Alias_symbol (synonym)CD317
tetherin
Other aliasTETHERIN
HGNC (Hugo) BST2
LocusID (NCBI) 684
Atlas_Id 50634
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 17402939 and ends at 17405630 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BST2 (19p13.11) / BST2 (19p13.11)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)BST2   1119
Cards
Entrez_Gene (NCBI)BST2  684  bone marrow stromal cell antigen 2
AliasesCD317; TETHERIN
GeneCards (Weizmann)BST2
Ensembl hg19 (Hinxton)ENSG00000130303 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130303 [Gene_View]  ENSG00000130303 [Sequence]  chr19:17402939-17405630 [Contig_View]  BST2 [Vega]
ICGC DataPortalENSG00000130303
TCGA cBioPortalBST2
AceView (NCBI)BST2
Genatlas (Paris)BST2
WikiGenes684
SOURCE (Princeton)BST2
Genetics Home Reference (NIH)BST2
Genomic and cartography
GoldenPath hg38 (UCSC)BST2  -     chr19:17402939-17405630 -  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BST2  -     19p13.11   [Description]    (hg19-Feb_2009)
GoldenPathBST2 - 19p13.11 [CytoView hg19]  BST2 - 19p13.11 [CytoView hg38]
ImmunoBaseENSG00000130303
Mapping of homologs : NCBIBST2 [Mapview hg19]  BST2 [Mapview hg38]
OMIM600534   
Gene and transcription
Genbank (Entrez)AI077344 AK223124 AK291099 AK303593 AY320400
RefSeq transcript (Entrez)NM_004335
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BST2
Alternative Splicing GalleryENSG00000130303
Gene ExpressionBST2 [ NCBI-GEO ]   BST2 [ EBI - ARRAY_EXPRESS ]   BST2 [ SEEK ]   BST2 [ MEM ]
Gene Expression Viewer (FireBrowse)BST2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)684
GTEX Portal (Tissue expression)BST2
Human Protein AtlasENSG00000130303-BST2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ10589   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ10589  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ10589
Splice isoforms : SwissVarQ10589
PhosPhoSitePlusQ10589
Domains : Interpro (EBI)BST2   
Domain families : Pfam (Sanger)BST2 (PF16716)   
Domain families : Pfam (NCBI)pfam16716   
Conserved Domain (NCBI)BST2
DMDM Disease mutations684
Blocks (Seattle)BST2
PDB (RSDB)2LK9    2X7A    2XG7    3MQ7    3MQ9    3MQB    3MQC    3NWH    4P6Z    6CM9    6CRI    6D83    6D84    6DFF   
PDB Europe2LK9    2X7A    2XG7    3MQ7    3MQ9    3MQB    3MQC    3NWH    4P6Z    6CM9    6CRI    6D83    6D84    6DFF   
PDB (PDBSum)2LK9    2X7A    2XG7    3MQ7    3MQ9    3MQB    3MQC    3NWH    4P6Z    6CM9    6CRI    6D83    6D84    6DFF   
PDB (IMB)2LK9    2X7A    2XG7    3MQ7    3MQ9    3MQB    3MQC    3NWH    4P6Z    6CM9    6CRI    6D83    6D84    6DFF   
Structural Biology KnowledgeBase2LK9    2X7A    2XG7    3MQ7    3MQ9    3MQB    3MQC    3NWH    4P6Z    6CM9    6CRI    6D83    6D84    6DFF   
SCOP (Structural Classification of Proteins)2LK9    2X7A    2XG7    3MQ7    3MQ9    3MQB    3MQC    3NWH    4P6Z    6CM9    6CRI    6D83    6D84    6DFF   
CATH (Classification of proteins structures)2LK9    2X7A    2XG7    3MQ7    3MQ9    3MQB    3MQC    3NWH    4P6Z    6CM9    6CRI    6D83    6D84    6DFF   
SuperfamilyQ10589
Human Protein Atlas [tissue]ENSG00000130303-BST2 [tissue]
Peptide AtlasQ10589
HPRD02759
IPIIPI00026241   IPI00909718   IPI00385355   
Protein Interaction databases
DIP (DOE-UCLA)Q10589
IntAct (EBI)Q10589
FunCoupENSG00000130303
BioGRIDBST2
STRING (EMBL)BST2
ZODIACBST2
Ontologies - Pathways
QuickGOQ10589
Ontology : AmiGOnegative regulation of plasmacytoid dendritic cell cytokine production  RNA binding  protein binding  cytoplasm  multivesicular body  Golgi apparatus  Golgi apparatus  cytosol  plasma membrane  plasma membrane  metalloendopeptidase inhibitor activity  metalloendopeptidase inhibitor activity  response to virus  cell surface  cell surface  cell surface  negative regulation of endopeptidase activity  membrane  integral component of membrane  apical plasma membrane  negative regulation of cell growth  negative regulation of cell migration  anchored component of membrane  regulation of actin cytoskeleton organization  response to interferon-gamma  response to interferon-alpha  response to interferon-beta  azurophil granule membrane  B cell activation  identical protein binding  protein homodimerization activity  positive regulation of I-kappaB kinase/NF-kappaB signaling  neutrophil degranulation  negative regulation of viral genome replication  innate immune response  innate immune response  membrane raft  defense response to virus  defense response to virus  type I interferon signaling pathway  extracellular exosome  positive regulation of leukocyte proliferation  negative regulation of intracellular transport of viral material  
Ontology : EGO-EBInegative regulation of plasmacytoid dendritic cell cytokine production  RNA binding  protein binding  cytoplasm  multivesicular body  Golgi apparatus  Golgi apparatus  cytosol  plasma membrane  plasma membrane  metalloendopeptidase inhibitor activity  metalloendopeptidase inhibitor activity  response to virus  cell surface  cell surface  cell surface  negative regulation of endopeptidase activity  membrane  integral component of membrane  apical plasma membrane  negative regulation of cell growth  negative regulation of cell migration  anchored component of membrane  regulation of actin cytoskeleton organization  response to interferon-gamma  response to interferon-alpha  response to interferon-beta  azurophil granule membrane  B cell activation  identical protein binding  protein homodimerization activity  positive regulation of I-kappaB kinase/NF-kappaB signaling  neutrophil degranulation  negative regulation of viral genome replication  innate immune response  innate immune response  membrane raft  defense response to virus  defense response to virus  type I interferon signaling pathway  extracellular exosome  positive regulation of leukocyte proliferation  negative regulation of intracellular transport of viral material  
NDEx NetworkBST2
Atlas of Cancer Signalling NetworkBST2
Wikipedia pathwaysBST2
Orthology - Evolution
OrthoDB684
GeneTree (enSembl)ENSG00000130303
Phylogenetic Trees/Animal Genes : TreeFamBST2
HOGENOMQ10589
Homologs : HomoloGeneBST2
Homology/Alignments : Family Browser (UCSC)BST2
Gene fusions - Rearrangements
Fusion : QuiverBST2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBST2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BST2
dbVarBST2
ClinVarBST2
1000_GenomesBST2 
Exome Variant ServerBST2
ExAC (Exome Aggregation Consortium)ENSG00000130303
GNOMAD BrowserENSG00000130303
Varsome BrowserBST2
Genetic variants : HAPMAP684
Genomic Variants (DGV)BST2 [DGVbeta]
DECIPHERBST2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBST2 
Mutations
ICGC Data PortalBST2 
TCGA Data PortalBST2 
Broad Tumor PortalBST2
OASIS PortalBST2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBST2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DBST2
Mutations and Diseases : HGMDBST2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BST2
DgiDB (Drug Gene Interaction Database)BST2
DoCM (Curated mutations)BST2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BST2 (select a term)
intoGenBST2
Cancer3DBST2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600534   
Orphanet
DisGeNETBST2
MedgenBST2
Genetic Testing Registry BST2
NextProtQ10589 [Medical]
TSGene684
GENETestsBST2
Target ValidationBST2
Huge Navigator BST2 [HugePedia]
snp3D : Map Gene to Disease684
BioCentury BCIQBST2
ClinGenBST2
Clinical trials, drugs, therapy
Protein Interactions : CTD684
Pharm GKB GenePA25436
Clinical trialBST2
Miscellaneous
canSAR (ICR)BST2 (select the gene name)
HarmonizomeBST2
DataMed IndexBST2
Probes
Litterature
PubMed360 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBST2
EVEXBST2
GoPubMedBST2
iHOPBST2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Jun 30 20:10:43 CEST 2020
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