BST2
gene geneOn this page
Also known as CD317tetherinBST-2HM1.24
Summary
BST2 (bone marrow stromal cell antigen 2, HGNC:1119) is a protein-coding gene on chromosome 19p13.11, encoding Bone marrow stromal antigen 2 (Q10589). 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.
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 rheumatoid arthritis.
Source: NCBI Gene 684 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 34 total
- GTEx eGene: eQTL in 35 tissues, sQTL in 1 (q < 0.05)
- Constraint (gnomAD): pLI 0.01 (LoF-tolerant), LOEUF 0.97 (unconstrained)
- MANE Select transcript:
NM_004335 - Interaction hub: 1,732 STRING partners (top 10% of genes corpus-wide)
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1119 |
| Approved symbol | BST2 |
| Name | bone marrow stromal cell antigen 2 |
| Location | 19p13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CD317, tetherin, BST-2, HM1.24 |
| Ensembl gene | ENSG00000130303 |
| Ensembl biotype | protein_coding |
| OMIM | 600534 |
| Entrez | 684 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 14 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron
MANE Select: ENST00000252593
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 2
ENST00000252593, ENST00000527220, ENST00000533098, ENST00000860181, ENST00000860182, ENST00000860183, ENST00000860184, ENST00000860185, ENST00000860186, ENST00000982416, ENST00000982417, ENST00000982418, ENST00001010764, ENST00001100483, ENST00001118800, ENST00001128046, ENST00001131149, ENST00001141971
RefSeq mRNA: 1 — MANE Select: NM_004335
NM_004335
CCDS: CCDS12358
Canonical transcript exons
ENST00000252593 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000665591 | 17404371 | 17404437 |
| ENSE00001257451 | 17402939 | 17403326 |
| ENSE00001728588 | 17405291 | 17405630 |
| ENSE00003635845 | 17403680 | 17403824 |
| ENSE00003655252 | 17404129 | 17404189 |
Expression profiles
Bgee: expression breadth ubiquitous, 272 present calls, max score 99.52.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.4462 / max 439.6829, expressed in 1137 samples.
Highest expression (Bgee): adrenal gland, adrenal gland cortex, ovary, adrenal cortex, uterine tube.
Genetic regulation across tissues (GTEx eQTL / sQTL)
BST2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 35 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 36 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Adipose Subcutaneous | eqtl | 3.5e-20 | +0.58 | 19:17407483:C:T |
| Artery Aorta | eqtl | 3.8e-18 | +0.61 | 19:17395367:T:C |
| Cells Cultured fibroblasts | eqtl | 3.5e-15 | +0.40 | 19:17395124:A:C |
| Adipose Visceral Omentum | eqtl | 4.8e-14 | +0.59 | 19:17405591:A:AGCTGAAAG |
| Nerve Tibial | eqtl | 1.0e-10 | +0.67 | 19:17407483:C:T |
| Esophagus Mucosa | eqtl | 2.6e-09 | +0.33 | 19:17395367:T:C |
| Artery Tibial | eqtl | 4.9e-09 | +0.47 | 19:17405591:A:AGCTGAAAG |
| Skin Not Sun Exposed Suprapubic | eqtl | 1.4e-08 | +0.61 | 19:17407483:C:T |
| Heart Atrial Appendage | eqtl | 6.0e-08 | +0.74 | 19:17405591:A:AGCTGAAAG |
| Cells EBV-transformed lymphocytes | eqtl | 2.1e-07 | +0.46 | 19:17407483:C:T |
| Colon Transverse | eqtl | 4.1e-07 | +0.45 | 19:17405591:A:AGCTGAAAG |
| Colon Sigmoid | eqtl | 1.2e-06 | +0.84 | 19:17405591:A:AGCTGAAAG |
| Pancreas | eqtl | 1.5e-06 | +0.70 | 19:17407483:C:T |
| Skin Sun Exposed Lower leg | eqtl | 1.9e-06 | +0.43 | 19:17407483:C:T |
| Brain Putamen basal ganglia | eqtl | 1.3e-05 | -1.31 | 19:17405817:C:T |
| Esophagus Muscularis | eqtl | 1.7e-05 | +0.57 | 19:17405591:A:AGCTGAAAG |
| Testis | eqtl | 6.4e-05 | +0.32 | 19:17405591:A:AGCTGAAAG |
| Muscle Skeletal | eqtl | 7.3e-05 | +0.42 | 19:17405591:A:AGCTGAAAG |
| Spleen | eqtl | 3.0e-04 | +0.25 | 19:17401421:A:AT |
| Heart Left Ventricle | eqtl | 1.3e-03 | +0.38 | 19:17403837:T:TGGG |
FANTOM5 promoters
4 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 179864 | 13.3254 | 1107 |
| 179865 | 0.5942 | 323 |
| 179863 | 0.3707 | 192 |
| 208723 | 0.1559 | 69 |
Top tissues by expression
showing 100 of 295 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland | UBERON:0001233 | 99.52 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 99.51 | gold quality |
| left adrenal gland | UBERON:0001234 | 99.49 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.49 | gold quality |
| left ovary | UBERON:0002119 | 99.47 | gold quality |
| adrenal cortex | UBERON:0001235 | 99.45 | gold quality |
| right ovary | UBERON:0002118 | 99.44 | gold quality |
| adrenal gland | UBERON:0002369 | 98.93 | gold quality |
| left uterine tube | UBERON:0001303 | 98.89 | gold quality |
| monocyte | CL:0000576 | 98.74 | gold quality |
| granulocyte | CL:0000094 | 98.62 | gold quality |
| spleen | UBERON:0002106 | 98.49 | gold quality |
| right uterine tube | UBERON:0001302 | 98.48 | gold quality |
| peritoneum | UBERON:0002358 | 98.44 | gold quality |
| omental fat pad | UBERON:0010414 | 98.44 | gold quality |
| leukocyte | CL:0000738 | 98.35 | gold quality |
| mononuclear cell | CL:0000842 | 98.35 | gold quality |
| gall bladder | UBERON:0002110 | 98.07 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 98.05 | gold quality |
| apex of heart | UBERON:0002098 | 98.02 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.79 | gold quality |
| pericardium | UBERON:0002407 | 97.69 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.63 | gold quality |
| lymph node | UBERON:0000029 | 97.43 | gold quality |
| right lung | UBERON:0002167 | 97.32 | gold quality |
| ovary | UBERON:0000992 | 97.21 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 97.05 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.03 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.50 | gold quality |
| ascending aorta | UBERON:0001496 | 96.47 | gold quality |
| endocervix | UBERON:0000458 | 96.42 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.28 | gold quality |
| upper lobe of lung | UBERON:0008948 | 96.12 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.07 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.71 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.66 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 95.59 | gold quality |
| peripheral nervous system | UBERON:0000010 | 95.25 | gold quality |
| tibial nerve | UBERON:0001323 | 95.25 | gold quality |
| adipose tissue | UBERON:0001013 | 95.15 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.10 | gold quality |
| right coronary artery | UBERON:0001625 | 94.79 | gold quality |
| vermiform appendix | UBERON:0001154 | 94.62 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.55 | gold quality |
| body of uterus | UBERON:0009853 | 94.45 | gold quality |
| small intestine | UBERON:0002108 | 94.43 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 94.38 | gold quality |
| ectocervix | UBERON:0012249 | 94.37 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.34 | gold quality |
| caecum | UBERON:0001153 | 94.33 | gold quality |
| connective tissue | UBERON:0002384 | 94.29 | gold quality |
| liver | UBERON:0002107 | 94.28 | gold quality |
| fundus of stomach | UBERON:0001160 | 94.15 | gold quality |
| coronary artery | UBERON:0001621 | 94.08 | gold quality |
| left coronary artery | UBERON:0001626 | 94.07 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 93.62 | gold quality |
| lower esophagus | UBERON:0013473 | 93.57 | gold quality |
| transverse colon | UBERON:0001157 | 93.55 | gold quality |
| colonic epithelium | UBERON:0000397 | 93.54 | gold quality |
| vena cava | UBERON:0004087 | 93.48 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.46 | gold quality |
| cortex of kidney | UBERON:0001225 | 93.29 | gold quality |
| cardiac ventricle | UBERON:0002082 | 93.28 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.16 | gold quality |
| cardiac atrium | UBERON:0002081 | 93.08 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 93.04 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.04 | gold quality |
| blood | UBERON:0000178 | 92.84 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.69 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 92.66 | gold quality |
| sigmoid colon | UBERON:0001159 | 92.50 | gold quality |
| thymus | UBERON:0002370 | 92.46 | gold quality |
| heart | UBERON:0000948 | 92.42 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 92.26 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.22 | gold quality |
| bone marrow cell | CL:0002092 | 92.16 | gold quality |
| pituitary gland | UBERON:0000007 | 92.11 | gold quality |
| vagina | UBERON:0000996 | 92.06 | gold quality |
| putamen | UBERON:0001874 | 91.92 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 91.73 | gold quality |
| body of stomach | UBERON:0001161 | 91.71 | gold quality |
| colon | UBERON:0001155 | 91.67 | gold quality |
| intestine | UBERON:0000160 | 91.61 | gold quality |
| metanephros | UBERON:0000081 | 91.54 | gold quality |
| renal glomerulus | UBERON:0000074 | 91.43 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 91.28 | gold quality |
| caudate nucleus | UBERON:0001873 | 91.24 | gold quality |
| large intestine | UBERON:0000059 | 91.19 | gold quality |
| spinal cord | UBERON:0002240 | 91.16 | gold quality |
| amygdala | UBERON:0001876 | 91.15 | gold quality |
| aorta | UBERON:0000947 | 91.11 | gold quality |
| thyroid gland | UBERON:0002046 | 90.96 | gold quality |
| bone marrow | UBERON:0002371 | 90.92 | gold quality |
| lung | UBERON:0002048 | 90.88 | gold quality |
| stomach | UBERON:0000945 | 90.82 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 90.74 | gold quality |
| prostate gland | UBERON:0002367 | 90.73 | gold quality |
| rectum | UBERON:0001052 | 90.69 | gold quality |
| esophagus | UBERON:0001043 | 90.55 | gold quality |
| muscle of leg | UBERON:0001383 | 89.82 | gold quality |
Single-cell (SCXA)
Detected in 31 experiment(s), a significant marker in 27.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-114530 | yes | 3321.36 |
| E-GEOD-124472 | yes | 3199.59 |
| E-HCAD-10 | yes | 2837.65 |
| E-HCAD-24 | yes | 1563.71 |
| E-ENAD-20 | yes | 1004.43 |
| E-MTAB-8559 | yes | 845.71 |
| E-HCAD-13 | yes | 418.66 |
| E-HCAD-6 | yes | 403.04 |
| E-MTAB-10018 | yes | 274.59 |
| E-MTAB-10290 | yes | 215.14 |
| E-MTAB-6701 | yes | 97.79 |
| E-HCAD-4 | yes | 79.55 |
| E-MTAB-10287 | yes | 71.79 |
| E-MTAB-10553 | yes | 59.14 |
| E-HCAD-1 | yes | 54.81 |
HPA expression
RNA tissue specificity: Tissue enhanced
showing 60 of 79 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Ovary | tissue | 486.3 | medium |
| Adrenal gland | tissue | 261.7 | high |
| Placenta | tissue | 190.8 | medium |
| Liver | tissue | 183.5 | low |
| Spleen | tissue | 173.4 | medium |
| Fallopian tube | tissue | 153.3 | medium |
| Adipose tissue | tissue | 143.7 | medium |
| Lymph node | tissue | 119.9 | high |
| Lung | tissue | 116.9 | high |
| Thymus | tissue | 115.2 | |
| Gallbladder | tissue | 102.5 | medium |
| Seminal vesicle | tissue | 99.2 | high |
| Bone marrow | tissue | 97.9 | high |
| Appendix | tissue | 90.1 | medium |
| Vagina | tissue | 85.0 | low |
| Cervix | tissue | 84.2 | not detected |
| Urinary bladder | tissue | 77.6 | medium |
| Salivary gland | tissue | 73.1 | medium |
| Smooth muscle | tissue | 70.9 | medium |
| Tonsil | tissue | 61.7 | high |
| Breast | tissue | 57.7 | medium |
| Heart muscle | tissue | 56.7 | medium |
| Epididymis | tissue | 56.1 | high |
| Pituitary gland | tissue | 55.9 | |
| Stomach 1 | tissue | 51.5 | medium |
| Small intestine | tissue | 48.2 | medium |
| Tongue | tissue | 47.5 | |
| Colon | tissue | 45.5 | medium |
| Duodenum | tissue | 44.6 | medium |
| Skeletal muscle | tissue | 43.3 | low |
| Prostate | tissue | 42.0 | medium |
| Endometrium 1 | tissue | 38.7 | low |
| Kidney | tissue | 35.5 | high |
| Esophagus | tissue | 34.1 | not detected |
| Rectum | tissue | 31.3 | medium |
| Testis | tissue | 27.5 | high |
| Hippocampus | tissue | 22.1 | low |
| Pancreas | tissue | 20.7 | medium |
| Nucleus accumbens | tissue | 18.9 | |
| Thyroid gland | tissue | 17.3 | low |
| Locus coeruleus | tissue | 17.0 | |
| Choroid plexus | tissue | 15.3 | |
| Parathyroid gland | tissue | 12.9 | |
| Frontal cortex | tissue | 11.5 | |
| Postcentral gyrus | tissue | 10.9 | |
| Skin 1 | tissue | 9.9 | low |
| Caudate putamen | tissue | 9.1 | |
| Spinal cord | tissue | 5.7 | |
| Superior colliculi | tissue | 4.7 | |
| Substantia nigra | tissue | 3.9 | |
| Medulla oblongata | tissue | 3.3 | |
| Midbrain | tissue | 3.1 | |
| Pons | tissue | 2.8 | |
| Thalamus | tissue | 2.8 | |
| Putamen | tissue | 2.5 | |
| Olfactory bulb | tissue | 2.1 | |
| Cerebral cortex | tissue | 1.9 | medium |
| Retina | tissue | 1.9 | |
| Temporal cortex | tissue | 1.9 | |
| Hypothalamus | tissue | 1.8 |
Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Blood vessel (107.6), Nucleus gracilis (57.5), Cervical spinal cord, dorsal horn (47.9), Dorsal motor vagal complex (44.3), Peritrigeminal nucleus (42.0).
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ERCC6, GATA1, STAT1, STAT2, STAT3, TFAP2A
miRNA regulators (miRDB)
Targeting BST2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
6 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-548AS-3P | 99.12 | 69.12 | 2294 |
| HSA-MIR-4518 | 98.12 | 66.82 | 1030 |
| HSA-MIR-4469 | 97.93 | 65.81 | 1319 |
| HSA-MIR-1266-5P | 97.71 | 66.92 | 1052 |
Functional genomics
gnomAD constraint: pLI 0.0137, LOEUF 0.969, missense Z 1.19 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000252593 — one region, missense o/e 0.80.
Literature-anchored findings (GeneRIF, showing 40)
- CD317 expression correlated with, and induced, a requirement for Vpu during HIV-1 and murine leukaemia virus particle release (PMID:18200009)
- CD317, a tetherin, is associated with antiviral activity; tetherin expression correlates with a requirement for the antiviral antagonist Vpu during HIV-1 virus particle release. (PMID:18200009)
- Interferon-alpha enhances BST2 expression and the antitumor activity of anti-CD317 monoclonal antibody in renal cell carcinoma xenogfraft models. (PMID:19032371)
- Tetherin inhibits the release of Lassa and Marburg virus from host cells. (PMID:19091864)
- Thus, CD317 provides a physical link between lipid rafts and the apical actin network in polarized epithelial cells and is crucial for the maintenance of microvilli in such cells. (PMID:19273615)
- HIV-1 Vpu suppresses the expression of the CD317 antiviral factor in human cells. (PMID:19286137)
- Results provide novel data indicating the BST2 protein expression is associated with the formation of bone metastases in human breast cancer and that BST2 may be a potential biomarker in breast cancer with bone metastasis. (PMID:19338666)
- Clathrin-dependent endocytosis of human CD317 from the cell surface lipid rafts is mediated by direct interaction with alpha-adaptin. (PMID:19359243)
- findings show that SIV Nef overcomes restriction by rhesus macaque & sooty mangabey tetherin, but not human tetherin; HIV-1 Vpu counteracts restriction by human tetherin, but is ineffective against macaque or mangabey tetherin (PMID:19436700)
- study provides evidence that tetherin is important in protecting against viral infection, and that the HIV-1 Vpu-mediated countermeasure is specifically adapted to act against human tetherin (PMID:19461879)
- Vpu antagonizes human BST-2 through interacting with the transmembrane domain of BST-2. (PMID:19474106)
- Vpu co-opts the beta-TrCP/SCF E3 ubiquitin ligase complex to induce endosomal trafficking events that remove BST-2 from its site of action as a virion-tethering factor. (PMID:19478868)
- hBST-2 has potential to suppress the release of Vpu-deficient HIV-1. hBST-2 can tether HIV-1 particles without the need of additional co-factor(s) that may be expressed exclusively in primates. (PMID:19490609)
- Vpu appears to interact with BST-2 in the trans-Golgi network or in early endosomes, leading to lysosomal degradation of BST-2. (PMID:19515779)
- Data show that BST2 directly binds to purified ILT7, initiates signaling via the ILT7-FcepsilonRIgamma complex, and regulates TLR7/9 responses in plasmacytoid dendritic cells. (PMID:19564354)
- KSHV release is decreased in the absence of K5 in a BST2-dependent manner, suggesting that K5 contributes to the evasion of intracellular antiviral defense programs (PMID:19605472)
- Analysis of single, double, or triple cysteine mutants revealed that any one of three cysteine residues present in the BST-2 extracellular domain was sufficient for BST-2 dimerization, for inhibition of virus release, and sensitivity to Vpu. (PMID:19737401)
- HIV-2 envelope glycoprotein antagonism by intracellular sequestration (PMID:19740980)
- tetherin retains progeny virions on the cell surface by a mechanism other than dimerization (PMID:19742323)
- Results show that HIV-1 Vpu physically interacts with BST-2 through their mutual transmembrane domains and leads to the degradation of this host factor via a lysosomal, not proteasomal, pathway. (PMID:19837671)
- These observations emphasize the importance of tetherin in protecting mammals against viral infection and suggest that HIV-1 Vpu inhibitors may select active envelope mutants. (PMID:19864625)
- Study demonstrates, through mutational analyses and domain replacement experiments, that tetherin configuration rather than primary sequence is critical for antiviral activity. (PMID:19879838)
- Data show that human tetherin, recently described as an antiviral protein able to inhibit the release of enveloped viruses, and its porcine homologue can inhibit PERV release from producer cells. (PMID:20015985)
- BCA2 is a co-factor or enhancer for the tetherin-dependent restriction of HIV-1 release from infected cells. (PMID:20019814)
- The authors show that mutation of serine 52 to alanine (S52A) entirely disrupts Vpu-mediated degradation of CD4 and strongly impairs its ability to antagonize tetherin. (PMID:20078884)
- Data show that tetherin restricts particle release and does not require CAML for this effect. (PMID:20126395)
- tetherin is the physical tether linking HIV-1 virions and the plasma membrane. (PMID:20140192)
- CD317 localizes to the plasma membrane, to early and recycling endosomes, and to the trans-Golgi network and largely relocates to endosomes upon HIV-1 infection (PMID:20147389)
- These data show that HIV-1 Vpu can efficiently antagonize virion tethering in the absence of CD317 degradation. (PMID:20147395)
- incorporation of BST-2 into viral envelopes underlies its broad restrictive activity, whereas its relative exclusion from virions and sites of viral assembly by proteins such as HIV-1 Vpu may provide viral antagonism of restriction (PMID:20221443)
- Tetherin inhibits virus shedding during HIV1 infection. (PMID:20329562)
- The authors propose that the irregular coiled coil provides conformational flexibility, ensuring that BST-2/tetherin anchoring both in the plasma membrane and in the newly formed virus membrane is maintained during virus budding. (PMID:20399176)
- These findings suggest that Ebola virus GP uses a novel mechanism to circumvent tetherin restriction. (PMID:20444895)
- Combined evolutionary and functional studies have allowed reconstruction of the host-pathogen interactions that have shaped Tetherin and its lentivirus-encoded antagonists, including Vpu and Nef. (PMID:20444900)
- viral proteins such as HIV-1 Vpu, simian immunodeficiency virus Nef, and KSHV K5 counteract BST-2, thereby allowing mature virions to readily escape from infected cells (PMID:20485522)
- Both HIV-1 Vpu and HIV-2 Env redirect tetherin away from the cell surface and sequester the protein in a perinuclear compartment, which likely blocks the action of this cellular restriction factor. (PMID:20529266)
- Tetherin restricts productive HIV-1 cell-to-cell transmission. (PMID:20585562)
- TLR3 acativation by polyI:C resulted in inhibition of HIV infections in macrophages via induction of type 1 interferon antiviral factors, tetherin and APOBEC3G. (PMID:20636339)
- Elevated cellular levels of BST-2 inhibited the release of virus-like particles consisting of the matrix proteins of multiple highly virulent NIAID Priority Pathogens (PMID:20686043)
- siRNA-mediated knockdown of CD317 relieved a virion release restriction and markedly enhanced the egress of HIV-1, HIV-2, and simian immunodeficiency virus (SIV) in rat cells, including primary macrophages. (PMID:20702620)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Bst2 | ENSMUSG00000046718 |
| rattus_norvegicus | Bst2 | ENSRNOG00000059900 |
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1916800) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 9 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| abnormal liver morphology | 1 |
| small liver | 1 |
| enlarged spleen | 1 |
| enlarged lymph nodes | 1 |
| abnormal skin morphology | 1 |
| abnormal kidney morphology | 1 |
| small kidney | 1 |
| abnormal cell physiology | 1 |
| increased susceptibility to Retroviridae infection | 1 |
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Cricetulus griseus | Q6WRU0 | 50.0% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| TMEM221 | protein-coding | 100130519 |
| BISPR | ncRNA | 105221694 |
| NXNL1 | protein-coding | 115861 |
| MVB12A | protein-coding | 93343 |
| CCDC194 | protein-coding | 110806280 |
| PLVAP | protein-coding | 83483 |
| GTPBP3 | protein-coding | 84705 |
Protein
Protein identifiers
Bone marrow stromal antigen 2 — Q10589 (reviewed: Q10589)
Alternative names: HM1.24 antigen, Tetherin
All UniProt accessions (3): Q10589, A0A024R7H5, A0A7P0T9F9
UniProt curated annotations — full annotation on UniProt →
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 to the cell membrane and linking virions to each other. The tethered virions can be internalized by endocytosis and subsequently degraded or they can remain on the cell surface. In either case, their spread as cell-free virions is restricted. Its target viruses belong to diverse families, including retroviridae: human immunodeficiency virus type 1 (HIV-1), human immunodeficiency virus type 2 (HIV-2), simian immunodeficiency viruses (SIVs), equine infectious anemia virus (EIAV), feline immunodeficiency virus (FIV), prototype foamy virus (PFV), Mason-Pfizer monkey virus (MPMV), human T-cell leukemia virus type 1 (HTLV-1), Rous sarcoma virus (RSV) and murine leukemia virus (MLV), flavivirideae: hepatitis C virus (HCV), filoviridae: ebola virus (EBOV) and marburg virus (MARV), arenaviridae: lassa virus (LASV) and machupo virus (MACV), herpesviridae: kaposis sarcoma-associated herpesvirus (KSHV), rhabdoviridae: vesicular stomatitis virus (VSV), orthomyxoviridae: influenza A virus, paramyxoviridae: nipah virus, and coronaviridae: SARS-CoV. Can inhibit cell surface proteolytic activity of MMP14 causing decreased activation of MMP15 which results in inhibition of cell growth and migration. Can stimulate signaling by LILRA4/ILT7 and consequently provide negative feedback to the production of IFN by plasmacytoid dendritic cells in response to viral infection. Plays a role in the organization of the subapical actin cytoskeleton in polarized epithelial cells. Isoform 1 and isoform 2 are both effective viral restriction factors but have differing antiviral and signaling activities. Isoform 2 is resistant to HIV-1 Vpu-mediated degradation and restricts HIV-1 viral budding in the presence of Vpu. Isoform 1 acts as an activator of NF-kappa-B and this activity is inhibited by isoform 2.
Subunit / interactions. Parallel homodimer; disulfide-linked. May form homotetramers under reducing conditions. Isoform 1 and isoform 2 form homodimers and also heterodimers with each other. Dimerization is essential for its antiviral activity. Interacts (via cytoplasmic domain) with ARHGAP44. Interacts with MMP14 (via C-terminal cytoplasmic tail). Interacts with LILRA4/ILT7. Interacts with RNF115. (Microbial infection) Interacts with ebola GP protein. (Microbial infection) Interacts (via transmembrane domain) with HIV-1 VPU (via transmembrane domain). (Microbial infection) Interacts with HIV-2 ENV. (Microbial infection) Interacts with SARS-CoV ORF7a protein. (Microbial infection) Interacts with rabies virus protein G.
Subcellular location. Golgi apparatus. trans-Golgi network. Cell membrane. Membrane raft. Cytoplasm. Apical cell membrane Golgi apparatus. Late endosome.
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 plasma cells. Highly expressed on T-cells, monocytes, NK cells and dendritic cells (at protein level).
Post-translational modifications. Monoubiquitinated by KSHV E3 ubiquitin-protein ligase K5, leading to its targeting to late endosomes and degradation. The GPI anchor is essential for its antiviral activity. Heavily glycosylated.
Domain organisation. The extracellular coiled coil domain forms an extended 170 A long semi-flexible rod-like structure important for virion retention at the cell surface and prevention of virus spreading.
Induction. By type I interferons. (Microbial infection) Down-regulated by HIV-1 VPU protein. Antagonizes its function by targeting it to the trans-Golgi network, sequestering it away from virus assembly sites on the cell membrane. VPU also acts as an adapter molecule linking it to BTRC, a substrate recognition subunit of the Skp1/Cullin/F-box protein E3 ubiquitin ligase, inducing its ubiquitination and subsequent proteasomal degradation. (Microbial infection) Down-regulated by HIV-2 ENV protein. Antagonizes its function by targeting it to the trans-Golgi network, sequestering it away from virus assembly sites on the cell membrane. (Microbial infection) Down-regulated by KSHV K5 protein. K5 ubiquitinates it leading to its targeting to late endosomes and degradation. (Microbial infection) Down-regulated by ebola virus GP protein. (Microbial infection) Made inactive by SARS-CoV ORF7a protein through impairing proper glycosylation. May be down-regulated by SARS-CoV Spike protein through lysosomal degradation pathway.
Miscellaneous. Tetherin shows evidence of positive (adaptive) selection, presumably as a result of evolutionary pressure applied by antagonistic viral proteins that counteract its inhibitiory activity and this has led to the species-specific tetherin sensitivity to viral countermeasures. For example, Tantalus monkey tetherin cannot be abrogated by HIV-1 VPU due to variation in the tetherin transmembrane region. Similarly, SIV Nefs are able to overcome simian tetherins, but not human tetherin, due to a unique 5-amino-acid deletion in the cytoplasmic tail domain of human tetherin. Produced by alternative initiation at Met-13 of isoform 1.
Similarity. Belongs to the tetherin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q10589-1 | 1, l-Tetherin | yes |
| Q10589-2 | 2, s-Tetherin |
RefSeq proteins (1): NP_004326* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR024886 | BST2 | Family |
Pfam: PF16716
UniProt features (29 total): mutagenesis site 10, disulfide bond 3, topological domain 2, strand 2, glycosylation site 2, chain 1, propeptide 1, cross-link 1, splice variant 1, sequence variant 1, sequence conflict 1, helix 1, transmembrane region 1, coiled-coil region 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
15 structures by resolution:
| PDB | Title | Method | Resolution (Å) |
|---|---|---|---|
| 7Q9A | MHC Class I A02 Allele presenting LLLGIGILVL, in complex with Mel5 TCR | X-RAY DIFFRACTION | 2.1 |
| 3MQ7 | Crystal Structure of Ectodomain Mutant of BST-2/Tetherin/CD317 | X-RAY DIFFRACTION | 2.28 |
| 3NWH | Crystal structure of BST2/Tetherin | X-RAY DIFFRACTION | 2.6 |
| 2X7A | Structural basis of HIV-1 tethering to membranes by the Bst2-tetherin ectodomain | X-RAY DIFFRACTION | 2.77 |
| 3MQ9 | Crystal Structure of Ectodomain Mutant of BST-2/Tetherin/CD317 Fused to MBP | X-RAY DIFFRACTION | 2.8 |
| 3MQC | Crystal Structure of Ectodomain of BST-2/Tetherin/CD317 (P21) | X-RAY DIFFRACTION | 2.8 |
| 4P6Z | Crystal structure of the human BST2 cytoplasmic domain and the HIV-1 Vpu cytoplasmic … | X-RAY DIFFRACTION | 3 |
| 3MQB | Crystal Structure of Ectodomain of BST-2/Tetherin/CD317 (C2) | X-RAY DIFFRACTION | 3.2 |
| 2XG7 | Crystal Structure of BST2-Tetherin Ectodomain expressed in HEK293T cells | X-RAY DIFFRACTION | 3.45 |
| 6CM9 | Structure of the cargo bound AP-1:Arf1:tetherin-Nef closed trimer monomeric subunit | ELECTRON MICROSCOPY | 3.73 |
| 6DFF | Structure of the cargo bound AP-1:Arf1:tetherin-Nef monomer | ELECTRON MICROSCOPY | 3.9 |
| 6D83 | Structure of the cargo bound AP-1:Arf1:tetherin-Nef (L164A, L165A) dileucine mutant dimer … | ELECTRON MICROSCOPY | 4.27 |
| 6D84 | Structure of the cargo bound AP-1:Arf1:tetherin-Nef (L164A, L165A) dileucine mutant dimer | ELECTRON MICROSCOPY | 6.72 |
| 6CRI | Structure of the cargo bound AP-1:Arf1:tetherin-Nef stable closed trimer | ELECTRON MICROSCOPY | 6.8 |
| 2LK9 | Structure of BST-2/Tetherin Transmembrane Domain | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q10589-F1 | 85.63 | 0.69 |
Human Protein Atlas
Protein class: CD markers, Transporters, Transporter channels and pores, Predicted membrane proteins, Plasma proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): golgi apparatus; vesicles
Antibody reliability (HPA): IH enhanced · IF supported
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2)
| Type | Positions |
|---|---|
| Glycyl lysine isopeptide (lys-gly) (interchain with g-cter in ubiquitin) | 18 |
| Gpi-anchor amidated serine | 161 |
Disulfide bonds (3)
| Type | Positions |
|---|---|
| Interchain | 63, 91, 53 |
Glycosylation sites (2)
| Type | Positions |
|---|---|
| N-linked (glcnac…) asparagine | 65, 92 |
Mutagenesis-validated functional residues (10)
| Position | Phenotype |
|---|---|
| 3–5 | partial resistance to vpu. |
| 6 | partial resistance to vpu and significantly reduced activation of nf-kb; when associated with a-8. |
| 8 | partial resistance to vpu and significantly reduced activation of nf-kb; when associated with a-6. |
| 18 | abolishes redistribution to late endosomes in cells expressing ksh virus e3 ubiquitin-protein ligase k5. |
| 21 | no effect on redistribution to late endosomes in cells expressing ksh virus e3 ubiquitin-protein ligase k5. |
| 53 | prevents homodimerization and inhibition of sars-cov, hcov-229e, and hiv-1 viral particles production ex vivo; when associated with a-63 … |
| 63 | prevents homodimerization and inhibition of sars-cov, hcov-229e, and hiv-1 viral particles production ex vivo; when associated with a-53 … |
| 65 | loss of glycosylation site. |
| 91 | prevents homodimerization and inhibition of sars-cov, hcov-229e, and hiv-1 viral particles production ex vivo; when associated with a-53 … |
| 92 | loss of glycosylation site. impairs anti-viral activity. |
Function
Pathways and Gene Ontology
Reactome pathways
3 curated (TAS) of 13; 7 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
13 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-9692916 | SARS-CoV-1 activates/modulates innate immune responses ⚕ | curated |
| R-HSA-909733 | Interferon alpha/beta signaling | curated |
| R-HSA-6798695 | Neutrophil degranulation | curated |
| R-HSA-1643685 | Disease ⚕ | — |
| R-HSA-5663205 | Infectious disease ⚕ | — |
| R-HSA-9679506 | SARS-CoV Infections ⚕ | — |
| R-HSA-9678108 | SARS-CoV-1 Infection ⚕ | — |
| R-HSA-9692914 | SARS-CoV-1-host interactions ⚕ | — |
| R-HSA-9824446 | Viral Infection Pathways ⚕ | — |
| R-HSA-1280215 | Cytokine Signaling in Immune system | — |
| R-HSA-168256 | Immune System | — |
| R-HSA-168249 | Innate Immune System | — |
| R-HSA-913531 | Interferon Signaling | — |
MSigDB gene sets: 431 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, MODULE_92, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOBP_B_CELL_ACTIVATION, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, MODULE_151, BECKER_TAMOXIFEN_RESISTANCE_UP, GOBP_NEGATIVE_REGULATION_OF_PRODUCTION_OF_MOLECULAR_MEDIATOR_OF_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, MODULE_64
GO Biological Process (16): negative regulation of plasmacytoid dendritic cell cytokine production (GO:0002737), response to virus (GO:0009615), negative regulation of cell growth (GO:0030308), negative regulation of cell migration (GO:0030336), regulation of actin cytoskeleton organization (GO:0032956), response to type II interferon (GO:0034341), response to interferon-alpha (GO:0035455), response to interferon-beta (GO:0035456), B cell activation (GO:0042113), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), negative regulation of viral genome replication (GO:0045071), innate immune response (GO:0045087), defense response to virus (GO:0051607), positive regulation of leukocyte proliferation (GO:0070665), negative regulation of intracellular transport of viral material (GO:1901253), immune system process (GO:0002376)
GO Molecular Function (5): RNA binding (GO:0003723), metalloendopeptidase inhibitor activity (GO:0008191), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), protein binding (GO:0005515)
GO Cellular Component (12): multivesicular body (GO:0005771), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020), apical plasma membrane (GO:0016324), azurophil granule membrane (GO:0035577), membrane raft (GO:0045121), extracellular exosome (GO:0070062), side of membrane (GO:0098552), cytoplasm (GO:0005737), late endosome (GO:0005770)
Reactome top-level categories
10 top-level categories:
| Category | Pathways |
|---|---|
| Immune System | 2 |
| Innate Immune System | 1 |
| Interferon Signaling | 1 |
| SARS-CoV-1-host interactions | 1 |
| Disease | 1 |
| Cytokine Signaling in Immune system | 1 |
| SARS-CoV Infections | 1 |
| Viral Infection Pathways | 1 |
| SARS-CoV-1 Infection | 1 |
| Infectious disease | 1 |
GO top-level categories
58 GO namespaces:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| response to cytokine | 3 |
| membrane | 2 |
| plasmacytoid dendritic cell cytokine production | 1 |
| negative regulation of dendritic cell cytokine production | 1 |
| regulation of plasmacytoid dendritic cell cytokine production | 1 |
| response to other organism | 1 |
| regulation of cell growth | 1 |
| cell growth | 1 |
| negative regulation of growth | 1 |
| negative regulation of cellular process | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| negative regulation of cell motility | 1 |
| actin cytoskeleton organization | 1 |
| regulation of actin filament-based process | 1 |
| regulation of cytoskeleton organization | 1 |
| innate immune response | 1 |
| lymphocyte activation | 1 |
| canonical NF-kappaB signal transduction | 1 |
| regulation of canonical NF-kappaB signal transduction | 1 |
| positive regulation of intracellular signal transduction | 1 |
| viral genome replication | 1 |
| regulation of viral genome replication | 1 |
| negative regulation of viral process | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| defense response | 1 |
| response to virus | 1 |
| positive regulation of cell population proliferation | 1 |
| leukocyte proliferation | 1 |
| regulation of leukocyte proliferation | 1 |
| intracellular transport of virus | 1 |
| regulation of intracellular transport of viral material | 1 |
| negative regulation of viral life cycle | 1 |
| biological_process | 1 |
| nucleic acid binding | 1 |
| metalloendopeptidase activity | 1 |
| endopeptidase inhibitor activity | 1 |
| protein binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| late endosome | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cell periphery | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
| lysosomal membrane | 1 |
| secretory granule membrane | 1 |
| azurophil granule | 1 |
| membrane microdomain | 1 |
| extracellular vesicle | 1 |
| leaflet of membrane bilayer | 1 |
| intracellular anatomical structure | 1 |
| endosome | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 18 of 33 annotations. The rest are phylogenetic / computational / electronic (IEA).
18 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| defense response to virus | BP | direct assay |
| innate immune response | BP | direct assay |
| negative regulation of cell growth | BP | direct assay |
| negative regulation of cell migration | BP | direct assay |
| negative regulation of intracellular transport of viral material | BP | direct assay |
| negative regulation of plasmacytoid dendritic cell cytokine production | BP | direct assay |
| negative regulation of viral genome replication | BP | direct assay |
| response to virus | BP | direct assay |
| Golgi apparatus | CC | direct assay |
| cell surface | CC | mutant phenotype |
| extracellular exosome | CC | high-throughput assay |
| membrane | CC | high-throughput assay |
| multivesicular body | CC | mutant phenotype |
| plasma membrane | CC | direct assay |
| RNA binding | MF | high-throughput assay |
| identical protein binding | MF | physical interaction |
| metalloendopeptidase inhibitor activity | MF | direct assay |
| protein homodimerization activity | MF | physical interaction |
Protein interactions and networks
STRING
showing 15 of 1,732 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BST2 | APOBEC3G | Q9HC16 | 865 |
| BST2 | TRIM5 | Q9C035 | 798 |
| BST2 | SAMHD1 | Q9Y3Z3 | 759 |
| BST2 | PLVAP | Q9BX97 | 745 |
| BST2 | CAMLG | P49069 | 725 |
| BST2 | RIGI | O95786 | 713 |
| BST2 | MX2 | P20592 | 702 |
| BST2 | ISG15 | P05161 | 681 |
| BST2 | RSAD2 | Q8WXG1 | 669 |
| BST2 | MX1 | P20591 | 655 |
| BST2 | IFNA13 | P01562 | 654 |
| BST2 | CD4 | P01730 | 651 |
| BST2 | LILRA4 | P59901 | 638 |
| BST2 | IFI35 | P80217 | 632 |
| BST2 | SERINC5 | Q86VE9 | 631 |
IntAct
Human interaction partners of BST2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
8 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| LILRA4 | direct interaction | 0.680 | 3 |
| CD81 | physical association | 0.560 | 3 |
| GP | physical association | 0.520 | 2 |
| RBBP5 | physical association | 0.400 | 1 |
| RPL14 | physical association | 0.400 | 1 |
| HAGH | physical association | 0.370 | 1 |
| HARS2 | physical association | 0.370 | 1 |
| DPM1 | association | 0.350 | 1 |
BioGRID (76 interactions; top human partners by supporting records): BTRC (Affinity Capture-Western; 2 records), CHMP4B (Affinity Capture-MS; 2 records), ABL1 (Affinity Capture-MS), ABL2 (Affinity Capture-MS), ANLN (Affinity Capture-MS), BMPR1A (Proximity Label-MS), BSG (Proximity Label-MS), CALCOCO2 (Affinity Capture-Western), CAPZA2 (Affinity Capture-MS), CD81 (Two-hybrid), CYB5R3 (Co-fractionation), DONSON (Affinity Capture-MS), DPM1 (Affinity Capture-MS), ECT2 (Affinity Capture-MS), EGFR (Proximity Label-MS)
Ligand–receptor pairs (CellPhoneDB) (1)
Curated ligand–receptor partners (cell-cell communication), distinct from the protein–protein interactions above.
1 ligand–receptor pairs:
| Partner | This gene’s role | Signaling class |
|---|---|---|
| LILRA4 | ligand |
Disease & clinical
Genetic variants
Variant evidence for BST2: 34 ClinVar records (0 pathogenic / likely pathogenic).
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 3 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 27 predictions of 265):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 19:17405289–17405290 | donor_loss | 1.0000 | 4 |
| 19:17403825–17403826 | acceptor_loss | 0.9900 | 5 |
| 19:17403829 | acceptor_gain | 0.9900 | |
| 19:17404193 | acceptor_gain | 0.9900 | |
| 19:17404198 | acceptor_gain | 0.9900 | |
| 19:17404951 | donor_gain | 0.9900 | |
| 19:17405290 | donor_loss | 0.9900 | |
| 19:17403678–17403679 | donor_loss | 0.9800 | 5 |
| 19:17403830 | acceptor_gain | 0.9800 | |
| 19:17404127–17404129 | donor_loss | 0.9800 | 7 |
AlphaMissense
152 missense substitutions predicted likely pathogenic (of 1,160 scored), across 73 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| C53 | 6 | 0.724 | 0.840 |
| C63 | 6 | 0.710 | 0.845 |
| F81 | 5 | 0.813 | 0.888 |
| G56 | 5 | 0.784 | 0.878 |
| I120 | 5 | 0.783 | 0.942 |
| S50 | 5 | 0.753 | 0.810 |
| L127 | 4 | 0.856 | 0.986 |
| G38 | 4 | 0.827 | 0.938 |
| F44 | 4 | 0.827 | 0.893 |
| L116 | 4 | 0.792 | 0.963 |
| R138 | 4 | 0.722 | 0.815 |
| N65 | 4 | 0.715 | 0.757 |
| L123 | 3 | 0.822 | 0.920 |
| L98 | 3 | 0.811 | 0.946 |
| T67 | 3 | 0.750 | 0.925 |
| G27 | 3 | 0.731 | 0.754 |
| M99 | 3 | 0.722 | 0.722 |
| N141 | 3 | 0.696 | 0.809 |
| M61 | 3 | 0.661 | 0.661 |
| Q128 | 3 | 0.660 | 0.821 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
1 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Testicular Germ Cell Tumor (TCGA) | unfavorable | 0.000645 |
Disease associations
OMIM: gene MIM:600534 | disease phenotypes:
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067079 (SINGLE PROTEIN)
PharmGKB: 1 entry (CPIC guideline: no)
Binding affinities (BindingDB)
1 measured of 1 human assays (2 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| CHEMBL5653589 | KD | 1440 nM |
ChEMBL bioactivities
2 potent at pChembl≥5 of 3 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.67 | Kd | 215.9 | nM | CHEMBL3752910 |
| 6.67 | ED50 | 215.9 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147961: Binding affinity to human BST2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.2159 | uM |
CTD chemical–gene interactions
73 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression, increases methylation | 5 |
| sodium arsenite | decreases expression, increases expression | 4 |
| Estradiol | decreases expression, affects cotreatment, increases expression | 4 |
| Tretinoin | affects expression, affects cotreatment, increases expression, decreases expression | 4 |
| (+)-JQ1 compound | decreases expression | 3 |
| Tetrachlorodibenzodioxin | affects cotreatment, increases expression, decreases expression | 3 |
| Cyclosporine | decreases expression, increases expression | 3 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 2 |
| Resveratrol | decreases expression, increases expression | 2 |
| Air Pollutants | increases abundance, decreases expression | 2 |
| Benzo(a)pyrene | increases methylation, decreases expression | 2 |
| Methotrexate | affects response to substance, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| GSK-J4 | decreases expression | 1 |
| 3,19-(2-bromobenzylidene)andrographolide | decreases response to substance, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | affects expression | 1 |
| kojic acid | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| nickel chloride | affects cotreatment, increases expression | 1 |
| chloroquine diphosphate | decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| hydroquinone | decreases expression | 1 |
| pentanal | increases expression | 1 |
| tamibarotene | affects expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651003 | Binding | Binding affinity to human BST2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — *ChemMedChem* |
Cellosaurus cell lines
5 cell lines: 3 cancer cell line, 1 transformed cell line, 1 spontaneously immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1BT | Abcam A-431 BST2 KO | Cancer cell line | Female |
| CVCL_D9AC | Ubigene HEK293 BST2 KO | Transformed cell line | Female |
| CVCL_SF88 | HAP1 BST2 (-) 1 | Cancer cell line | Male |
| CVCL_SF89 | HAP1 BST2 (-) 2 | Cancer cell line | Male |
| CVCL_WL54 | Teth-CRFK | Spontaneously immortalized cell line | Female |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Predicted chemistry — Sugi Predict
The predicted patent-compound landscape for BST2 across ~30M SureChEMBL compounds — explore on Sugi Predict.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.