SV2B
gene geneOn this page
Also known as KIAA0735HsT19680SLC22B2
Summary
SV2B (synaptic vesicle glycoprotein 2B, HGNC:16874) is a protein-coding gene on chromosome 15q26.1, encoding Synaptic vesicle glycoprotein 2B (Q7L1I2). Probably plays a role in the control of regulated secretion in neural and endocrine cells.
This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients.
Source: NCBI Gene 9899 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 105 total
- Druggable target: yes
- MANE Select transcript:
NM_001323032
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16874 |
| Approved symbol | SV2B |
| Name | synaptic vesicle glycoprotein 2B |
| Location | 15q26.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0735, HsT19680, SLC22B2 |
| Ensembl gene | ENSG00000185518 |
| Ensembl biotype | protein_coding |
| OMIM | 185861 |
| Entrez | 9899 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 12 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000330276, ENST00000394232, ENST00000545111, ENST00000553727, ENST00000557291, ENST00000557410, ENST00000867188, ENST00000867189, ENST00000957278, ENST00000957279, ENST00000957280, ENST00000957281, ENST00000957282, ENST00000957283, ENST00000957284
RefSeq mRNA: 11 — MANE Select: NM_001323032
NM_001167580, NM_001323031, NM_001323032, NM_001323033, NM_001323034, NM_001323036, NM_001323037, NM_001323038, NM_001323039, NM_001323040, NM_014848
CCDS: CCDS10370, CCDS53972
Canonical transcript exons
ENST00000394232 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001289941 | 91267555 | 91267643 |
| ENSE00001290491 | 91258421 | 91258554 |
| ENSE00001291039 | 91281728 | 91281861 |
| ENSE00001300064 | 91266582 | 91266692 |
| ENSE00001303687 | 91292369 | 91302565 |
| ENSE00001303877 | 91284021 | 91284221 |
| ENSE00001313169 | 91268441 | 91268605 |
| ENSE00001316306 | 91225873 | 91226714 |
| ENSE00001317674 | 91252369 | 91252520 |
| ENSE00001322799 | 91289521 | 91289680 |
| ENSE00001517814 | 91100257 | 91100363 |
| ENSE00003556205 | 91251819 | 91251999 |
| ENSE00003592238 | 91260320 | 91260409 |
Expression profiles
Bgee: expression breadth ubiquitous, 202 present calls, max score 99.26.
FANTOM5 (CAGE): breadth broad, TPM avg 9.4046 / max 588.4982, expressed in 281 samples.
FANTOM5 promoters (22 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 148554 | 4.8884 | 223 |
| 148560 | 0.6217 | 81 |
| 148549 | 0.5283 | 88 |
| 148546 | 0.5265 | 105 |
| 148544 | 0.3260 | 116 |
| 148547 | 0.3025 | 77 |
| 148557 | 0.2690 | 71 |
| 148545 | 0.2473 | 77 |
| 148552 | 0.2413 | 91 |
| 148556 | 0.2312 | 73 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 99.26 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 98.88 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.46 | gold quality |
| frontal pole | UBERON:0002795 | 98.30 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.02 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 97.72 | gold quality |
| paraflocculus | UBERON:0005351 | 97.49 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 97.35 | gold quality |
| pons | UBERON:0000988 | 97.29 | gold quality |
| postcentral gyrus | UBERON:0002581 | 96.86 | gold quality |
| parietal lobe | UBERON:0001872 | 96.78 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.77 | gold quality |
| cerebellar vermis | UBERON:0004720 | 96.53 | gold quality |
| secondary oocyte | CL:0000655 | 96.30 | gold quality |
| entorhinal cortex | UBERON:0002728 | 95.88 | gold quality |
| endothelial cell | CL:0000115 | 95.54 | gold quality |
| primary visual cortex | UBERON:0002436 | 94.69 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.62 | gold quality |
| frontal cortex | UBERON:0001870 | 94.38 | gold quality |
| occipital lobe | UBERON:0002021 | 94.13 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.11 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 94.04 | gold quality |
| cerebellum | UBERON:0002037 | 93.92 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 93.52 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 93.48 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.43 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.30 | gold quality |
| neocortex | UBERON:0001950 | 92.39 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.30 | gold quality |
| cerebral cortex | UBERON:0000956 | 91.85 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-25 | yes | 87.52 |
| E-HCAD-35 | yes | 62.14 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
359 targeting SV2B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
Literature-anchored findings (GeneRIF, showing 4)
- Synaptic vesicle protein 2 binds adenine nucleotides (PMID:18524768)
- In classical mesial temporal sclerosis 1A, the expression of SV2 isoforms is altered with a marked decrease of SV2B paralleling synaptic loss. (PMID:23617838)
- Bioinformatics analysis of potential core genes for glioblastoma. (PMID:32667033)
- Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns. (PMID:33588752)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sv2ba | ENSDARG00000057427 |
| danio_rerio | sv2bb | ENSDARG00000060711 |
| mus_musculus | Sv2b | ENSMUSG00000053025 |
| rattus_norvegicus | Sv2b | ENSRNOG00000011160 |
Paralogs (2): SV2C (ENSG00000122012), SV2A (ENSG00000159164)
Protein
Protein identifiers
Synaptic vesicle glycoprotein 2B — Q7L1I2 (reviewed: Q7L1I2)
All UniProt accessions (1): Q7L1I2
UniProt curated annotations — full annotation on UniProt →
Function. Probably plays a role in the control of regulated secretion in neural and endocrine cells. (Microbial infection) Receptor for the C.botulinum neurotoxin type A2 (BoNT/A, botA); glycosylation is not essential but enhances the interaction. Probably also serves as a receptor for the closely related C.botulinum neurotoxin type A1.
Subunit / interactions. Interacts with SYT1 in a calcium-independent manner. Forms a complex with SYT1, syntaxin-1 and SNAP25. (Microbial infection) Interacts with C.botulinum neurotoxin type A2 (BoNT/A, botA). Interaction is improved by glycosylation of SV2.
Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane. Acrosome.
Post-translational modifications. N-glycosylated. The N-terminal cytoplasmic domain is phosphorylated by CK1.
Similarity. Belongs to the major facilitator superfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7L1I2-1 | 1 | yes |
| Q7L1I2-2 | 2 |
RefSeq proteins (11): NP_001161052, NP_001309960, NP_001309961, NP_001309962, NP_001309963, NP_001309965, NP_001309966, NP_001309967, NP_001309968, NP_001309969, NP_055663 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005828 | MFS_sugar_transport-like | Family |
| IPR005829 | Sugar_transporter_CS | Conserved_site |
| IPR011701 | MFS | Family |
| IPR020846 | MFS_dom | Domain |
| IPR022308 | SV2 | Family |
| IPR036259 | MFS_trans_sf | Homologous_superfamily |
| IPR055415 | LD_SV2 | Domain |
Pfam: PF00083, PF07690, PF23894
UniProt features (35 total): topological domain 13, transmembrane region 12, modified residue 3, glycosylation site 3, chain 1, region of interest 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8UO8 | ELECTRON MICROSCOPY | 3.2 |
| 9F2B | ELECTRON MICROSCOPY | 3.49 |
| 9F1R | ELECTRON MICROSCOPY | 3.67 |
| 9F2J | ELECTRON MICROSCOPY | 3.98 |
| 9F2Y | ELECTRON MICROSCOPY | 4.39 |
| 9F3C | ELECTRON MICROSCOPY | 5.41 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7L1I2-F1 | 81.79 | 0.45 |
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 (3): 33, 36, 423
Glycosylation sites (3): 441, 491, 516
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-5250955 | Toxicity of botulinum toxin type D (botD) |
| R-HSA-5250968 | Toxicity of botulinum toxin type A (botA) |
| R-HSA-5250981 | Toxicity of botulinum toxin type F (botF) |
| R-HSA-5250992 | Toxicity of botulinum toxin type E (botE) |
| R-HSA-1643685 | Disease |
| R-HSA-168799 | Neurotoxicity of clostridium toxins |
| R-HSA-5339562 | Uptake and actions of bacterial toxins |
| R-HSA-5663205 | Infectious disease |
| R-HSA-9824439 | Bacterial Infection Pathways |
MSigDB gene sets: 235 (showing top):
AP1_01, BENPORATH_ES_WITH_H3K27ME3, MYOGENIN_Q6, MODULE_255, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_EXOCYTOSIS, MODULE_317, GOBP_NEUROTRANSMITTER_TRANSPORT, CROONQUIST_NRAS_SIGNALING_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, MODULE_66, GOBP_EXOCYTOSIS, AP1_Q4_01
GO Biological Process (5): neurotransmitter transport (GO:0006836), chemical synaptic transmission (GO:0007268), regulation of presynaptic cytosolic calcium ion concentration (GO:0099509), regulation of synaptic vesicle exocytosis (GO:2000300), transmembrane transport (GO:0055085)
GO Molecular Function (2): transmembrane transporter activity (GO:0022857), protein binding (GO:0005515)
GO Cellular Component (7): acrosomal vesicle (GO:0001669), plasma membrane (GO:0005886), synaptic vesicle (GO:0008021), membrane (GO:0016020), synaptic vesicle membrane (GO:0030672), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Neurotoxicity of clostridium toxins | 4 |
| Uptake and actions of bacterial toxins | 1 |
| Bacterial Infection Pathways | 1 |
| Disease | 1 |
| Infectious disease | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 2 |
| presynapse | 2 |
| anterograde trans-synaptic signaling | 1 |
| regulation of cytosolic calcium ion concentration | 1 |
| neuron cellular homeostasis | 1 |
| synaptic vesicle exocytosis | 1 |
| regulation of neurotransmitter secretion | 1 |
| regulation of regulated secretory pathway | 1 |
| cellular process | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| binding | 1 |
| secretory granule | 1 |
| membrane | 1 |
| cell periphery | 1 |
| exocytic vesicle | 1 |
| cellular anatomical structure | 1 |
| synaptic vesicle | 1 |
| exocytic vesicle membrane | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1660 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SV2B | GP2 | P55259 | 900 |
| SV2B | SYT1 | P21579 | 762 |
| SV2B | IMMT | Q16891 | 679 |
| SV2B | STX1B | P61266 | 621 |
| SV2B | SYNPR | Q8TBG9 | 558 |
| SV2B | SYNGR1 | O43759 | 557 |
| SV2B | SNAP25 | P13795 | 523 |
| SV2B | SSX2IP | Q9Y2D8 | 500 |
| SV2B | VAMP2 | P19065 | 493 |
| SV2B | SLC17A7 | Q9P2U7 | 484 |
| SV2B | SYT2 | Q8N9I0 | 484 |
| SV2B | GRIK4 | Q16099 | 484 |
| SV2B | CAMK2A | Q9UQM7 | 481 |
| SV2B | GAD1 | Q99259 | 473 |
| SV2B | INS | P01308 | 473 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SV2B | HSFY1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF778 | LRP4 | psi-mi:“MI:0914”(association) | 0.350 |
| SV2B | C15orf61 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (107): HSFY1 (Two-hybrid), SV2B (Affinity Capture-MS), SV2B (Affinity Capture-Western), SV2B (Affinity Capture-Western), SV2B (Affinity Capture-RNA), SV2B (Affinity Capture-MS), SV2B (Affinity Capture-RNA), SV2B (Affinity Capture-MS), SV2B (Affinity Capture-MS), AARS2 (Affinity Capture-MS), ABHD12 (Affinity Capture-MS), ACSL4 (Affinity Capture-MS), AGK (Affinity Capture-MS), AHSA1 (Affinity Capture-MS), AP3M1 (Affinity Capture-MS)
ESM2 similar proteins: A1C5W7, A1DG37, A2QFJ9, A2X8A7, A2Y8U6, A6ZIQ8, A7KAM9, B8AF63, B8AT51, B8BDK8, B9FMX4, E9EFH8, F4IKF6, G2WS43, O22216, O80605, Q02563, Q0CL24, Q0JAW2, Q0VA82, Q29397, Q2UMJ2, Q2V4F9, Q3TMP8, Q496J9, Q4R4X3, Q5EAU0, Q5F361, Q5R4L9, Q63564, Q658H5, Q65X70, Q69ZS6, Q6EPQ3, Q6GPQ3, Q6YK44, Q7L0J3, Q7L1I2, Q8BG39, Q8BH31
Diamond homologs: A0R5K5, A2RJJ9, B4TES5, D0CCT2, E8ZB61, O08966, O15245, O24723, O30513, O52733, P0A0J4, P0A0J5, P0A0J6, P0A0J7, P0A4K4, P0A4K5, P0AE24, P0AE25, P45598, P77228, P77589, P94493, Q02563, Q21455, Q29397, Q3E9A0, Q43975, Q4R4X3, Q51955, Q5EXK5, Q5HHX4, Q5R4L9, Q63089, Q69ZS6, Q6FFF7, Q6GBD5, Q6GIU7, Q7L0J3, Q7L1I2, Q9I6Q3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
105 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 96 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2903 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:91251816:CAG:C | acceptor_loss | 1.0000 |
| 15:91251817:A:AG | acceptor_gain | 1.0000 |
| 15:91251817:AG:A | acceptor_gain | 1.0000 |
| 15:91251817:AGG:A | acceptor_gain | 1.0000 |
| 15:91251818:G:GA | acceptor_gain | 1.0000 |
| 15:91251818:GG:G | acceptor_gain | 1.0000 |
| 15:91251818:GGG:G | acceptor_gain | 1.0000 |
| 15:91251818:GGGA:G | acceptor_gain | 1.0000 |
| 15:91251818:GGGAT:G | acceptor_gain | 1.0000 |
| 15:91252367:A:AG | acceptor_gain | 1.0000 |
| 15:91252368:G:GG | acceptor_gain | 1.0000 |
| 15:91252368:GTATT:G | acceptor_gain | 1.0000 |
| 15:91252521:G:C | donor_loss | 1.0000 |
| 15:91252522:T:A | donor_loss | 1.0000 |
| 15:91260308:T:TA | acceptor_gain | 1.0000 |
| 15:91260309:G:A | acceptor_gain | 1.0000 |
| 15:91266573:A:AG | acceptor_gain | 1.0000 |
| 15:91266574:C:G | acceptor_gain | 1.0000 |
| 15:91266578:TCA:T | acceptor_loss | 1.0000 |
| 15:91266579:CAG:C | acceptor_loss | 1.0000 |
| 15:91266580:A:AC | acceptor_loss | 1.0000 |
| 15:91266580:A:AG | acceptor_gain | 1.0000 |
| 15:91266580:AG:A | acceptor_gain | 1.0000 |
| 15:91266581:G:GT | acceptor_gain | 1.0000 |
| 15:91266581:GG:G | acceptor_gain | 1.0000 |
| 15:91266581:GGT:G | acceptor_gain | 1.0000 |
| 15:91266581:GGTT:G | acceptor_gain | 1.0000 |
| 15:91266581:GGTTT:G | acceptor_gain | 1.0000 |
| 15:91266689:GCAG:G | donor_gain | 1.0000 |
| 15:91266691:AGGT:A | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000012802 (15:91291038 A>G), RS1000013619 (15:91263147 C>G), RS1000028282 (15:91217229 A>G), RS1000035269 (15:91126131 C>A), RS1000036142 (15:91301605 G>A,C), RS1000063435 (15:91235396 A>C), RS1000090759 (15:91132386 T>C), RS1000094578 (15:91107590 C>A,T), RS1000116448 (15:91170011 C>G,T), RS1000123240 (15:91169329 C>G,T), RS1000140873 (15:91258010 C>G), RS1000146999 (15:91258720 C>G,T), RS1000150062 (15:91153900 G>A), RS1000160713 (15:91210361 G>A,T), RS1000162769 (15:91296051 G>A)
Disease associations
OMIM: gene MIM:185861 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000274_16 | Metabolite levels | 2.000000e-07 |
| GCST002491_23 | Age-related hearing impairment | 6.000000e-06 |
| GCST004030_27 | Primary sclerosing cholangitis | 2.000000e-06 |
| GCST005790_36 | Rosacea symptom severity | 7.000000e-06 |
| GCST007740_29 | Iris color (a* coordinate) | 7.000000e-07 |
| GCST007741_13 | Iris color (b* coordinate) | 5.000000e-07 |
| GCST008822_4 | Neuritic plaque | 3.000000e-06 |
| GCST009391_151 | Metabolite levels | 9.000000e-06 |
| GCST010273_6 | Gout (normal type) | 7.000000e-07 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009180 | rosacea severity measurement |
| EFO:0009764 | eye colour measurement |
| EFO:0006798 | neuritic plaque measurement |
| EFO:0010483 | gentisic acid measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4665594 (PROTEIN FAMILY)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression | 2 |
| terbufos | increases methylation | 1 |
| sulforaphane | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression, affects response to substance, increases expression | 1 |
| arsenic disulfide | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| licochalcone B | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Fonofos | increases methylation | 1 |
| Estradiol | decreases expression | 1 |
| Lead | affects expression | 1 |
| Lipopolysaccharides | increases expression, affects cotreatment, decreases expression, affects response to substance | 1 |
| Parathion | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Saquinavir | affects response to substance | 1 |
| Okadaic Acid | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): gout, presbycusis, sclerosing cholangitis