AutismKB 2.0

Annotation Details for BST2


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Basic Information Top
Gene Symbol:BST2 ( CD317,TETHERIN )
Gene Full Name: bone marrow stromal cell antigen 2
Band: 19p13.11
Quick LinksEntrez ID:684; OMIM: 600534; Uniprot ID:BST2_HUMAN; ENSEMBL ID: ENSG00000130303; HGNC ID: 1119
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDAcolocalizes_withcytoplasm22065321
GO:0005771IMP-multivesicular body22072966
GO:0005794IDA-Golgi apparatus-
GO:0005829IDA-cytosol-
GO:0005886IDA-plasma membrane19036818
GO:0005886TAS-plasma membrane-
GO:0005887TAS-integral component of plasma membrane7607676
GO:0009986IMP-cell surface22072966
GO:0009986ISS-cell surface-
GO:0016020IDA-membrane19946888
GO:0016324ISS-apical plasma membrane-
GO:0031225IEA-anchored component of membrane-
GO:0035577TAS-azurophil granule membrane-
GO:0045121IEA-membrane raft-
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0003723IDA-RNA binding22658674
GO:0004871IMP-signal transducer activity12761501
GO:0005515IPI-protein binding19564354
GO:0008191IDA-metalloendopeptidase inhibitor activity22065321
GO:0042803IPI-protein homodimerization activity20399176
GO ID Evidence Qualifier GO_term References
GO:0002737IDA-negative regulation of plasmacytoid dendritic cell cytokine production19564354
GO:0006959TAS-humoral immune response7607676
GO:0007267TAS-cell-cell signaling7607676
GO:0007275TAS-multicellular organism development7607676
GO:0008283TAS-cell proliferation7607676
GO:0009615IDA-response to virus19036818
GO:0010951IEA-negative regulation of endopeptidase activity-
GO:0030308IDA-negative regulation of cell growth22065321
GO:0030336IDA-negative regulation of cell migration22065321
GO:0032956ISS-regulation of actin cytoskeleton organization-
GO:0034341ISS-response to interferon-gamma-
GO:0035455ISS-response to interferon-alpha-
GO:0035456ISS-response to interferon-beta-
GO:0042113IEA-B cell activation-
GO:0043123IMP-positive regulation of I-kappaB kinase/NF-kappaB signaling12761501
GO:0043312TAS-neutrophil degranulation-
GO:0045071IDA-negative regulation of viral genome replication20943977
GO:0045087IDA-innate immune response19036818
GO:0051607IDA-defense response to virus20399176
GO:0060337TAS-type I interferon signaling pathway-
GO:1901253IDA-negative regulation of intracellular transport of viral material19036818
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1916800
  • Data Attributes: HomoloGene calculated
No data
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018