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Gene Gene information from NCBI Gene database.
Entrez ID 684
Gene name Bone marrow stromal cell antigen 2
Gene symbol BST2
Synonyms (NCBI Gene)
CD317HM1.24TETHERIN
Chromosome 19
Chromosome location 19p13.11
Summary 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
miRNA miRNA information provided by mirtarbase database.
97 Show/Hide all (97)
miRTarBase ID miRNA Experiments Reference
MIRT826170 hsa-miR-3189-5p CLIP-seq
MIRT826171 hsa-miR-4423-5p CLIP-seq
MIRT826172 hsa-miR-4502 CLIP-seq
MIRT826173 hsa-miR-4758-3p CLIP-seq
MIRT2444908 hsa-miR-1273d CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
GATA1 Activation 16249385
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49 Show/Hide all (49)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0002737 Process Negative regulation of plasmacytoid dendritic cell cytokine production IDA 19564354
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 19179289, 19564354, 22065321, 22072710, 24843023, 32296183
GO:0005737 Component Cytoplasm IDA 22065321
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600534 1119 ENSG00000130303
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q10589
Protein name Bone marrow stromal antigen 2 (BST-2) (HM1.24 antigen) (Tetherin) (CD antigen CD317)
Protein 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
PDB 2LK9 , 2X7A , 2XG7 , 3MQ7 , 3MQ9 , 3MQB , 3MQC , 3NWH , 4P6Z , 6CM9 , 6CRI , 6D83 , 6D84 , 6DFF , 7Q9A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16716 BST2 49 → 136 Bone marrow stromal antigen 2 Domain
Tissue specificity 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
MASTSYDYCRVPMEDGDKRCKLLLGIGILVLLIIVILGVPLIIFTIKANSEACRDGLRAV
MECRNVTHLLQQELTEAQKGFQDVEAQAATCNHTVMALMASLDAEKAQGQKKVEELEGEI
TTLNHKLQDASAEVER
LRRENQVLSVRIADKKYYPSSQDSSSAAAPQLLIVLLGLSALLQ
Sequence length 180
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Viral life cycle - HIV-1 Neutrophil degranulation
Herpes simplex virus 1 infection Interferon alpha/beta signaling
Human immunodeficiency virus 1 infection  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS association ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (89)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anodontia Anodontia Pubtator 36594082 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 25809693 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 31804007 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 21565182
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 28693265
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 21565182
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19338666, 25499888, 25860442, 28300825, 29299143, 29523843
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19338666, 23840623, 40704538 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cancer of Nasopharynx Nasopharyngeal Cancer BEFREE 28617432
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 23236425 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only