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.

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 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
Displaying Records 1 To 6 Of 6 Records
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