BST2 (Bone Marrow Stromal Cell Antigen 2) / Tetherin
A comprehensive biomedical resource on BST2, its gene structure, expression, disease associations, and functional roles.
Gene Information Card
| Symbol | BST2 |
|---|---|
| Full Name | Bone Marrow Stromal Cell Antigen 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 684 ncbi.nlm.nih.gov/gene/684 |
| Ensembl ID | ENSG00000130303 |
| UniProt ID | Q10589 |
| OMIM ID | 600534 |
| HGNC ID | 1119 |
| Aliases | CD317, HM1.24, TETHERIN, bone marrow stromal cell antigen 2 |
Description
BST2 (Bone Marrow Stromal Cell Antigen 2), also known as tetherin or CD317, is a type II transmembrane protein encoded by the BST2 gene located on chromosome 19p13.2. It is a lipid raft-associated protein with a unique topology: an N-terminal cytoplasmic domain, a transmembrane region, an extracellular coiled-coil domain, and a C-terminal glycosylphosphatidylinositol (GPI) anchor. BST2 is constitutively expressed on the surface of various cells, including bone marrow stromal cells, plasma cells, and certain epithelial cells. Its primary well-characterized function is to restrict the release of enveloped viruses, such as HIV-1, by tethering budding virions to the cell membrane. Additionally, BST2 is involved in immune modulation, cell signaling, and has been implicated in cancer progression and prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| HIV-1 infection | BST2 restricts HIV-1 release by tethering virions to the cell surface; HIV-1 Vpu counteracts this by downregulating BST2. | High; multiple studies (e.g., Neil et al., 2008) |
| Multiple myeloma | BST2 is highly expressed on malignant plasma cells; it is used as a therapeutic target (e.g., anti-BST2 antibody therapy). | Moderate; clinical trials and expression studies |
| Breast cancer | BST2 expression is associated with tumor progression and poor prognosis; it may promote cell invasion and metastasis. | Moderate; expression and functional studies |
| Hepatocellular carcinoma | BST2 is overexpressed in liver cancer and correlates with aggressive features; it may regulate immune evasion. | Low; limited studies |
| Autoimmune diseases | BST2 is involved in plasmacytoid dendritic cell function and type I interferon responses, potentially contributing to autoimmunity. | Low; mechanistic studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | High | High |
| Lung | Moderate | Medium |
| Liver | Moderate | Medium |
| Placenta | High | High |
| Spleen | Moderate | Medium |
| Kidney | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line; used in viral restriction studies |
| HepG2 | Moderate | Liver cancer cell line |
| MCF7 | Low | Breast cancer cell line |
| U937 | High | Monocyte-like cell line; BST2 expression induced by interferon |
| Jurkat | Low | T-cell leukemia cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3217318 | SNP (intronic) | ~0.2 (global) | Associated with altered BST2 expression; potential impact on HIV-1 susceptibility |
| rs12608504 | SNP (promoter) | ~0.3 | May affect transcription factor binding; linked to autoimmune disease risk |
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of start codon; functional impact unknown |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Located in cytoplasmic domain; may affect trafficking |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in BST2 are rare; they may impair viral restriction and immune regulation, but no germline pathogenic variants have been reported in ClinVar.
Gain of Function (GOF)
Gain-of-function is not well-defined; overexpression in cancer suggests a potential oncogenic role, but no activating mutations are known.
Dominant Negative (DN)
No dominant-negative mutations have been described for BST2.
View complete mutation data:
Gene Ontology (GO)
| • GO:0005515 (GO:0005515) | • GO:0005886 (GO:0005886) |
| • GO:0005887 (GO:0005887) | • GO:0009986 (GO:0009986) |
| • GO:0016021 (GO:0016021) | • GO:0030307 (GO:0030307) |
| • GO:0042802 (GO:0042802) | • GO:0045087 (GO:0045087) |
| • GO:0051607 (GO:0051607) | • GO:0060333 (GO:0060333) |
Pathways
• Innate Immune System
• Interferon Signaling
• Viral Restriction
• HIV Life Cycle
Protein Summary
BST2 is a 30-36 kDa type II transmembrane glycoprotein with a unique topology: an N-terminal cytoplasmic tail, a transmembrane domain, an extracellular coiled-coil domain, and a C-terminal GPI anchor. It forms homodimers via disulfide bonds in the extracellular domain. BST2 is constitutively expressed on the surface of bone marrow stromal cells, plasma cells, and various epithelial cells, and is strongly induced by type I interferons. Its primary function is to restrict the release of enveloped viruses by physically tethering budding virions to the cell membrane, thereby preventing viral spread. BST2 also plays roles in immune cell activation, B-cell development, and cancer progression. It is a target for antibody-based therapies in multiple myeloma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BST2 Knockout HEK293 Cell Line | EDJ-KQ17861 | Human | 684 | Details Get a Quote |
| BST2 Knockout HCT 116 Cell Line | EDJ-KQ19913 | Human | 684 | Details Get a Quote |
| BST2 Knockout HeLa Cell Line | EDJ-KQ19914 | Human | 684 | Details Get a Quote |
| BST2 Knockout A-549 Cell Line | EDJ-KQ61206 | Human | 684 | Details Get a Quote |
| BST2 Knockout HEK293T Cell Line | EDJ-KQ78147 | Human | 684 | Details Get a Quote |
| BST2 Knockout SK-HEP-1 Cell Line | EDJ-KQ78148 | Human | 684 | Details Get a Quote |
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