• Gene id: 684

Gene Summary

• Gene Symbol: BST2   Gene   UCSC   Ensembl
• Aliases: CD317, TETHERIN
• Gene name: bone marrow stromal cell antigen 2
• Alternate names: bone marrow stromal antigen 2, BST-2, HM1.24 antigen, NPC-A-7,
• Gene location: 19p13.11 (17405629: 17402938)     Exons: 5     NC_000019.10
• Gene summary(Entrez): 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 rheu
• OMIM: 600534

Protein Summary

• Protein general information: Q10589  
  • Name: Bone marrow stromal antigen 2 (BST 2) (HM1.24 antigen) (Tetherin) (CD antigen CD317)
  • Length: 180  
  • Mass: 19769
  • 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 plas
• Sequence:

  MASTSYDYCRVPMEDGDKRCKLLLGIGILVLLIIVILGVPLIIFTIKANSEACRDGLRAVMECRNVTHLLQQELT
  EAQKGFQDVEAQAATCNHTVMALMASLDAEKAQGQKKVEELEGEITTLNHKLQDASAEVERLRRENQVLSVRIAD
  KKYYPSSQDSSSAAAPQLLIVLLGLSALLQ

• Structural information:
  • Interpro: IPR024886  
  • PDB: 2LK9 2X7A 2XG7 3MQ7 3MQ9 3MQB 3MQC 3NWH 4P6Z 6CM9 6CRI 6D83 6D84 6DFF
  • PDBsum: 2LK9 2X7A 2XG7 3MQ7 3MQ9 3MQB 3MQC 3NWH 4P6Z 6CM9 6CRI 6D83 6D84 6DFF
  • DIP: 53216
  • STRING: ENSP00000252593
• Other Databases: GeneCards:  BST2  Malacards:  BST2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002376	immune system process	IEA	biological process
GO:0051607	defense response to virus	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0045087	innate immune response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0042113	B cell activation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035577	azurophil granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045121	membrane raft	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070665	positive regulation of leukocyte proliferation	TAS	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	HMP	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0009986	cell surface	IMP	cellular component
GO:0005771	multivesicular body	IMP	cellular component
GO:0051607	defense response to virus	IBA	biological process
GO:0045087	innate immune response	IBA	biological process
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0009986	cell surface	IBA	cellular component
GO:0008191	metalloendopeptidase inhibitor activity	IBA	molecular function
GO:0051607	defense response to virus	IDA	biological process
GO:0045087	innate immune response	IDA	biological process
GO:0045071	negative regulation of viral genome replication	IDA	biological process
GO:0030336	negative regulation of cell migration	IDA	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0009615	response to virus	IDA	biological process
GO:0009615	response to virus	IDA	biological process
GO:0009615	response to virus	IDA	biological process
GO:1901253	negative regulation of intracellular transport of viral material	IDA	biological process
GO:1901253	negative regulation of intracellular transport of viral material	IDA	biological process
GO:1901253	negative regulation of intracellular transport of viral material	IDA	biological process
GO:0008191	metalloendopeptidase inhibitor activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	colocalizes with
GO:0002737	negative regulation of plasmacytoid dendritic cell cytokine production	IDA	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0035455	response to interferon-alpha	ISS	biological process
GO:0034341	response to interferon-gamma	ISS	biological process
GO:0035456	response to interferon-beta	ISS	biological process
GO:0032956	regulation of actin cytoskeleton organization	ISS	biological process
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0009986	cell surface	ISS	cellular component
GO:0009986	cell surface	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051607	defense response to virus	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa05170	Human immunodeficiency virus 1 infection

Diseases

Associated diseases	References
oral squamous cell carcinoma	PMID:24706327
Stomach cancer	PMID:26832883
Sjogren's syndrome	PMID:30249485
Endometrial cancer	PMID:22729361
Endometrial cancer	PMID:26498112
Endometrial cancer	PMID:22729361
Astrocytoma	PMID:21565182
Esophagus squamous cell carcinoma	PMID:26832883
Acquired immunodeficiency syndrome	PMID:26885809
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881