NAPB
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Also known as SNAP-BETASNAPB
Summary
NAPB (NSF attachment protein beta, HGNC:15751) is a protein-coding gene on chromosome 20p11.21, encoding Beta-soluble NSF attachment protein (Q9H115). Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus.
This gene encodes a member of the soluble N-ethyl-maleimide-sensitive fusion attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. This gene encodes the SNAP beta isoform which has been shown to be preferentially expressed in brain tissue. The encoded protein also interacts with the GluR2 α-amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA) receptor subunit C-terminus and may play a role as a chaperone in the molecular processing of the AMPA receptor.
Source: NCBI Gene 63908 — RefSeq curated summary.
At a glance
- Gene–disease (curated): developmental and epileptic encephalopathy 107 (Definitive, GenCC)
- Clinical variants (ClinVar): 44 total — 3 pathogenic
- MANE Select transcript:
NM_022080
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15751 |
| Approved symbol | NAPB |
| Name | NSF attachment protein beta |
| Location | 20p11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SNAP-BETA, SNAPB |
| Ensembl gene | ENSG00000125814 |
| Ensembl biotype | protein_coding |
| OMIM | 611270 |
| Entrez | 63908 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000377026, ENST00000398425, ENST00000432543, ENST00000468128, ENST00000472855, ENST00000487502, ENST00000617876, ENST00000856932, ENST00000856933, ENST00000963019, ENST00000963020, ENST00000963021, ENST00000963022
RefSeq mRNA: 4 — MANE Select: NM_022080
NM_001283018, NM_001283020, NM_001283026, NM_022080
CCDS: CCDS13152, CCDS63241, CCDS63242, CCDS74710
Canonical transcript exons
ENST00000377026 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000859452 | 23395139 | 23395185 |
| ENSE00000859458 | 23379445 | 23379495 |
| ENSE00001918222 | 23374522 | 23377486 |
| ENSE00001944089 | 23421305 | 23421488 |
| ENSE00003464611 | 23389946 | 23390030 |
| ENSE00003466421 | 23394922 | 23394999 |
| ENSE00003471825 | 23390209 | 23390264 |
| ENSE00003487621 | 23397072 | 23397188 |
| ENSE00003499945 | 23402993 | 23403072 |
| ENSE00003600815 | 23379867 | 23379935 |
| ENSE00003654748 | 23381213 | 23381317 |
Expression profiles
Bgee: expression breadth ubiquitous, 245 present calls, max score 99.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.4029 / max 1191.3500, expressed in 1711 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 186700 | 17.4029 | 1711 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 99.96 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 99.87 | gold quality |
| endothelial cell | CL:0000115 | 99.86 | gold quality |
| pons | UBERON:0000988 | 99.62 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 99.61 | gold quality |
| cerebellar vermis | UBERON:0004720 | 99.49 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.48 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 99.42 | gold quality |
| parietal lobe | UBERON:0001872 | 99.40 | gold quality |
| postcentral gyrus | UBERON:0002581 | 99.38 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 99.33 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 99.27 | gold quality |
| entorhinal cortex | UBERON:0002728 | 99.13 | gold quality |
| occipital lobe | UBERON:0002021 | 99.06 | gold quality |
| primary visual cortex | UBERON:0002436 | 99.06 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 99.03 | gold quality |
| medulla oblongata | UBERON:0001896 | 98.72 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 98.72 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.72 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.71 | gold quality |
| ventral tegmental area | UBERON:0002691 | 98.54 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.51 | gold quality |
| frontal cortex | UBERON:0001870 | 98.41 | gold quality |
| cerebellum | UBERON:0002037 | 98.21 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.13 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.09 | gold quality |
| cerebral cortex | UBERON:0000956 | 98.03 | gold quality |
| temporal lobe | UBERON:0001871 | 98.01 | gold quality |
| neocortex | UBERON:0001950 | 97.91 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 97.83 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 41.78 |
| E-GEOD-137537 | yes | 14.11 |
| E-GEOD-84465 | yes | 7.32 |
| E-ANND-3 | no | 5.29 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
103 targeting NAPB, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
Literature-anchored findings (GeneRIF, showing 2)
- A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy. (PMID:33189936)
- NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant. (PMID:37014259)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | napba | ENSDARG00000013669 |
| danio_rerio | napbb | ENSDARG00000069101 |
| mus_musculus | Napb | ENSMUSG00000027438 |
| rattus_norvegicus | Napb | ENSRNOG00000004753 |
| drosophila_melanogaster | alphaSnap | FBGN0250791 |
| caenorhabditis_elegans | WBGENE00017016 |
Paralogs (2): NAPA (ENSG00000105402), NAPG (ENSG00000134265)
Protein
Protein identifiers
Beta-soluble NSF attachment protein — Q9H115 (reviewed: Q9H115)
Alternative names: N-ethylmaleimide-sensitive factor attachment protein beta
All UniProt accessions (2): Q9H115, A0A087WZQ7
UniProt curated annotations — full annotation on UniProt →
Function. Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus.
Subunit / interactions. Interacts with PRKCABP, and disrupts the interaction between GRIA2 and PRKCABP, leading to the internalization of GRIA2.
Subcellular location. Membrane.
Disease relevance. Developmental and epileptic encephalopathy 107 (DEE107) [MIM:620033] A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE107 is an autosomal recessive form characterized by onset of seizures in the first months of life. Affected individuals have severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the SNAP family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H115-1 | 1 | yes |
| Q9H115-2 | 2 | |
| Q9H115-3 | 3 |
RefSeq proteins (4): NP_001269947, NP_001269949, NP_001269955, NP_071363* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000744 | NSF_attach | Family |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
Pfam: PF14938
UniProt features (7 total): splice variant 3, sequence variant 3, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H115-F1 | 89.55 | 0.68 |
Function
Pathways and Gene Ontology
Reactome pathways
14 pathways
| ID | Pathway |
|---|---|
| R-HSA-204005 | COPII-mediated vesicle transport |
| R-HSA-6807878 | COPI-mediated anterograde transport |
| R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
| R-HSA-6811438 | Intra-Golgi traffic |
| R-HSA-6811440 | Retrograde transport at the Trans-Golgi-Network |
| R-HSA-199977 | ER to Golgi Anterograde Transport |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-446203 | Asparagine N-linked glycosylation |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
| R-HSA-8856688 | Golgi-to-ER retrograde transport |
| R-HSA-948021 | Transport to the Golgi and subsequent modification |
MSigDB gene sets: 181 (showing top):
GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGAMTNNNNNTCCY_UNKNOWN, AAAYRNCTG_UNKNOWN, CAGCTG_AP4_Q5, GOBP_CELL_CELL_SIGNALING, GOBP_EXOCYTOSIS, IRF1_Q6, TGTGTGA_MIR377, GOBP_SECRETION, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, TGANTCA_AP1_C
GO Biological Process (6): intracellular protein transport (GO:0006886), regulation of synaptic vesicle priming (GO:0010807), synaptic transmission, glutamatergic (GO:0035249), SNARE complex disassembly (GO:0035494), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192)
GO Molecular Function (3): soluble NSF attachment protein activity (GO:0005483), syntaxin binding (GO:0019905), protein binding (GO:0005515)
GO Cellular Component (4): synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044), extracellular exosome (GO:0070062), glutamatergic synapse (GO:0098978), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-9 pathways:
| Category | Pathways |
|---|---|
| Intra-Golgi and retrograde Golgi-to-ER traffic | 3 |
| ER to Golgi Anterograde Transport | 2 |
| Membrane Trafficking | 2 |
| Golgi-to-ER retrograde transport | 1 |
| Transport to the Golgi and subsequent modification | 1 |
| Vesicle-mediated transport | 1 |
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
| Asparagine N-linked glycosylation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular protein localization | 2 |
| transport | 2 |
| protein transport | 1 |
| intracellular transport | 1 |
| synaptic vesicle priming | 1 |
| regulation of protein-containing complex assembly | 1 |
| chemical synaptic transmission | 1 |
| vesicle-mediated transport | 1 |
| protein-containing complex disassembly | 1 |
| establishment of protein localization | 1 |
| cellular process | 1 |
| protein-macromolecule adaptor activity | 1 |
| SNARE binding | 1 |
| binding | 1 |
| SNARE complex | 1 |
| extracellular vesicle | 1 |
| synapse | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1108 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NAPB | SNAP23 | O00161 | 708 |
| NAPB | SNAP25 | P13795 | 692 |
| NAPB | STX4 | Q12846 | 691 |
| NAPB | NSF | P46459 | 673 |
| NAPB | VAMP8 | Q9BV40 | 608 |
| NAPB | NAPG | Q99747 | 532 |
| NAPB | STX1B | P61266 | 493 |
| NAPB | VAMP7 | P51809 | 488 |
| NAPB | STX3 | Q13277 | 463 |
| NAPB | F8A2 | P23610 | 448 |
| NAPB | STX6 | O43752 | 441 |
| NAPB | VAMP2 | P19065 | 431 |
| NAPB | VAMP3 | Q15836 | 428 |
| NAPB | VAMP1 | P23763 | 384 |
| NAPB | ACTR2 | P61160 | 364 |
IntAct
162 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STX11 | SNAP23 | psi-mi:“MI:0914”(association) | 0.900 |
| NAPB | STX3 | psi-mi:“MI:0915”(physical association) | 0.870 |
| STX3 | NAPB | psi-mi:“MI:0915”(physical association) | 0.870 |
| NAPA | SNAP23 | psi-mi:“MI:0914”(association) | 0.780 |
| STX6 | NAPB | psi-mi:“MI:0915”(physical association) | 0.740 |
| NAPB | STX6 | psi-mi:“MI:0915”(physical association) | 0.740 |
| NAPB | STX4 | psi-mi:“MI:0915”(physical association) | 0.720 |
| STX5 | NAPB | psi-mi:“MI:0915”(physical association) | 0.720 |
| NAPB | STX5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| STX4 | NAPB | psi-mi:“MI:0915”(physical association) | 0.720 |
| STX1A | NAPB | psi-mi:“MI:0915”(physical association) | 0.670 |
| STX6 | GOSR2 | psi-mi:“MI:0914”(association) | 0.670 |
| STX7 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| STX12 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| SNAP23 | NAPB | psi-mi:“MI:0915”(physical association) | 0.560 |
| NAPB | STX16 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (74): NAPB (Two-hybrid), NAPB (Two-hybrid), NAPB (Two-hybrid), NAPB (Two-hybrid), NAPB (Two-hybrid), NAPB (Two-hybrid), NAPB (Two-hybrid), NAPB (Two-hybrid), NAPB (Affinity Capture-MS), NAPB (Affinity Capture-MS), NAPB (Affinity Capture-MS), NAPB (Affinity Capture-MS), NAPB (Affinity Capture-MS), NAPB (Two-hybrid), NAPB (Affinity Capture-MS)
ESM2 similar proteins: A0JN39, A7Y521, B0BN93, B5DGH9, D2SW95, F1LMZ8, F1QGH9, F6P3G4, F6XBL2, O00231, O43242, O88544, P14685, P23514, P28663, P35606, P53618, P60228, P60229, P84169, Q05AY2, Q06364, Q1LUA8, Q2KI42, Q2KJ46, Q3B8M3, Q3SZA0, Q3T102, Q4R5E6, Q4R6G8, Q5E964, Q5R648, Q5R8K9, Q5R922, Q5ZIA5, Q5ZLA5, Q641X8, Q68FS2, Q6DRI1, Q6NWV3
Diamond homologs: O90758, P28663, P54920, P54921, P81125, P81126, P85969, P93798, Q23983, Q9DB05, Q9H115, Q9J5J0, P32602, P78603, Q54NP6, Q75D68, Q9LXZ5, Q9M5P8, Q9P4D0, Q9P4X4, Q9P6A5, Q9SPE6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 67 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Intra-Golgi traffic | 7 | 38.7× | 4e-08 |
| Retrograde transport at the Trans-Golgi-Network | 5 | 23.4× | 9e-05 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 8 | 17.8× | 9e-07 |
| COPII-mediated vesicle transport | 5 | 17.4× | 4e-04 |
| COPI-mediated anterograde transport | 5 | 11.7× | 2e-03 |
| Membrane Trafficking | 14 | 11.0× | 4e-09 |
| Vesicle-mediated transport | 14 | 10.4× | 4e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete vesicle docking | 13 | 153.2× | 3e-24 |
| vesicle fusion | 10 | 92.6× | 1e-15 |
| membrane fusion | 5 | 48.0× | 5e-06 |
| exocytosis | 8 | 18.7× | 1e-06 |
| intracellular protein transport | 14 | 14.0× | 1e-10 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
44 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 234936 | NM_022080.3(NAPB):c.479C>A (p.Ser160Ter) | Pathogenic |
| 2572575 | NM_022080.3(NAPB):c.333C>A (p.Tyr111Ter) | Pathogenic |
| 984717 | NM_022080.3(NAPB):c.173G>A (p.Trp58Ter) | Pathogenic |
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
1990 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:23390264:C:G | A141P | 1.000 |
| 20:23394959:G:T | A128E | 1.000 |
| 20:23394980:G:T | A121D | 1.000 |
| 20:23394983:G:T | A120E | 1.000 |
| 20:23397105:C:G | A88P | 1.000 |
| 20:23397122:G:T | A82D | 1.000 |
| 20:23403012:C:A | K53N | 1.000 |
| 20:23403012:C:G | K53N | 1.000 |
| 20:23377421:T:A | K284N | 0.999 |
| 20:23377421:T:G | K284N | 0.999 |
| 20:23377428:C:G | R282P | 0.999 |
| 20:23377431:A:G | L281P | 0.999 |
| 20:23379491:A:G | L247P | 0.999 |
| 20:23379885:T:A | R239S | 0.999 |
| 20:23379885:T:G | R239S | 0.999 |
| 20:23379886:C:A | R239I | 0.999 |
| 20:23379886:C:G | R239T | 0.999 |
| 20:23381243:G:C | C212W | 0.999 |
| 20:23381245:A:G | C212R | 0.999 |
| 20:23381247:A:G | L211P | 0.999 |
| 20:23381253:G:T | A209D | 0.999 |
| 20:23381254:C:G | A209P | 0.999 |
| 20:23381313:C:T | G189E | 0.999 |
| 20:23389965:G:T | A181D | 0.999 |
| 20:23389966:C:G | A181P | 0.999 |
| 20:23389989:G:T | A173D | 0.999 |
| 20:23390001:G:T | A169E | 0.999 |
| 20:23390026:C:G | A161P | 0.999 |
| 20:23390225:C:G | G154R | 0.999 |
| 20:23390225:C:T | G154R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000057573 (20:23422870 C>T), RS1000135428 (20:23417327 A>C), RS1000153668 (20:23374408 G>A), RS1000183373 (20:23399150 C>CAGAGCA), RS1000194876 (20:23417900 A>G), RS1000241653 (20:23387927 G>A), RS1000325881 (20:23392342 C>A,T), RS1000373254 (20:23405636 A>C), RS1000429935 (20:23422671 A>G), RS1000467738 (20:23405968 C>T), RS1000519003 (20:23397676 A>C), RS1000708201 (20:23411676 C>A,T), RS1000725035 (20:23393020 C>A,G,T), RS1000778764 (20:23393340 A>G), RS1000845444 (20:23386487 C>G,T)
Disease associations
OMIM: gene MIM:611270 | disease phenotypes: MIM:620033, MIM:308350
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| developmental and epileptic encephalopathy 107 | Definitive | Autosomal recessive |
Mondo (3): prostate cancer (MONDO:0008315), developmental and epileptic encephalopathy 107 (MONDO:0031055), developmental and epileptic encephalopathy, 1 (MONDO:0010632)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
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: no
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, increases abundance, increases expression | 4 |
| GSK-J4 | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| nickel sulfate | decreases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Quercetin | increases expression | 1 |
| Rotenone | decreases expression | 1 |
| Vincristine | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Asbestos, Crocidolite | decreases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Cellosaurus cell lines
5 cell lines: 5 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_C1VV | QBRIi014-A | Induced pluripotent stem cell | Male |
| CVCL_C1VW | QBRIi015-A | Induced pluripotent stem cell | Male |
| CVCL_C1VX | QBRIi016-A | Induced pluripotent stem cell | Male |
| CVCL_C1VY | QBRIi017-A | Induced pluripotent stem cell | Female |
| CVCL_C1VZ | QBRIi018-A | Induced pluripotent stem cell | Male |
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
- Associated diseases: developmental and epileptic encephalopathy 107
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): developmental and epileptic encephalopathy 107, developmental and epileptic encephalopathy, 1