ENOX1
gene geneOn this page
Also known as FLJ10094PIG38CNOXcCNOX
Summary
ENOX1 (ecto-NOX disulfide-thiol exchanger 1, HGNC:25474) is a protein-coding gene on chromosome 13q14.11, encoding Ecto-NOX disulfide-thiol exchanger 1 (Q8TC92). Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface.
The protein encoded by this gene is involved in plasma membrane electron transport pathways. The encoded protein has both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity. The two activities cycle with a periodicity of 24 minutes, with one activity being at its peak when the other is at its lowest.
Source: NCBI Gene 55068 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 101 total
- MANE Select transcript:
NM_001347969
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25474 |
| Approved symbol | ENOX1 |
| Name | ecto-NOX disulfide-thiol exchanger 1 |
| Location | 13q14.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10094, PIG38, CNOX, cCNOX |
| Ensembl gene | ENSG00000120658 |
| Ensembl biotype | protein_coding |
| OMIM | 610914 |
| Entrez | 55068 |
Gene structure
Transcript identifiers
Ensembl transcripts: 36 — 35 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000261488, ENST00000482207, ENST00000690772, ENST00000871211, ENST00000871212, ENST00000871213, ENST00000871214, ENST00000871215, ENST00000871216, ENST00000871217, ENST00000871218, ENST00000871219, ENST00000871220, ENST00000871221, ENST00000871222, ENST00000871223, ENST00000941812, ENST00000941813, ENST00000941814, ENST00000941815, ENST00000941816, ENST00000941817, ENST00000941818, ENST00000941819, ENST00000941820, ENST00000941821, ENST00000941822, ENST00000941823, ENST00000941824, ENST00000941825, ENST00000941826, ENST00000941827, ENST00000941828, ENST00000941829, ENST00000941830, ENST00000941831
RefSeq mRNA: 12 — MANE Select: NM_001347969
NM_001127615, NM_001242863, NM_001347963, NM_001347964, NM_001347965, NM_001347966, NM_001347967, NM_001347968, NM_001347969, NM_001347970, NM_001347971, NM_017993
CCDS: CCDS9389
Canonical transcript exons
ENST00000690772 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000817260 | 43322384 | 43322501 |
| ENSE00000817261 | 43326419 | 43326525 |
| ENSE00000817262 | 43344538 | 43344750 |
| ENSE00000817263 | 43355919 | 43356152 |
| ENSE00000817265 | 43361279 | 43361452 |
| ENSE00000817266 | 43411916 | 43412053 |
| ENSE00001093157 | 43298346 | 43298530 |
| ENSE00001093158 | 43269470 | 43269577 |
| ENSE00001093159 | 43236636 | 43236738 |
| ENSE00001093160 | 43224053 | 43224138 |
| ENSE00001093163 | 43265398 | 43265454 |
| ENSE00001181637 | 43412845 | 43412988 |
| ENSE00001430606 | 43484009 | 43484152 |
| ENSE00003597553 | 43359851 | 43360057 |
| ENSE00003927350 | 43667479 | 43667544 |
| ENSE00003937238 | 43213130 | 43214121 |
| ENSE00003937813 | 43786652 | 43786972 |
Expression profiles
Bgee: expression breadth ubiquitous, 215 present calls, max score 91.84.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.1966 / max 259.1765, expressed in 1028 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 137020 | 2.2097 | 682 |
| 137021 | 1.5584 | 677 |
| 137022 | 1.1803 | 499 |
| 137019 | 1.0716 | 440 |
| 137018 | 0.1766 | 85 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 91.84 | gold quality |
| cortical plate | UBERON:0005343 | 90.25 | gold quality |
| male germ cell | CL:0000015 | 88.71 | gold quality |
| ganglionic eminence | UBERON:0004023 | 84.69 | gold quality |
| secondary oocyte | CL:0000655 | 83.35 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.70 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 82.10 | gold quality |
| oocyte | CL:0000023 | 81.58 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 81.46 | gold quality |
| cartilage tissue | UBERON:0002418 | 80.57 | gold quality |
| ventricular zone | UBERON:0003053 | 80.25 | gold quality |
| prefrontal cortex | UBERON:0000451 | 80.24 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 79.95 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 79.10 | gold quality |
| frontal cortex | UBERON:0001870 | 78.35 | gold quality |
| neocortex | UBERON:0001950 | 78.30 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 78.01 | gold quality |
| cerebral cortex | UBERON:0000956 | 77.93 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 77.76 | gold quality |
| spinal cord | UBERON:0002240 | 77.53 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 77.40 | gold quality |
| postcentral gyrus | UBERON:0002581 | 77.36 | gold quality |
| nucleus accumbens | UBERON:0001882 | 77.31 | gold quality |
| cingulate cortex | UBERON:0003027 | 77.29 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 77.18 | gold quality |
| telencephalon | UBERON:0001893 | 77.12 | gold quality |
| entorhinal cortex | UBERON:0002728 | 77.01 | gold quality |
| Ammon’s horn | UBERON:0001954 | 76.88 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 76.85 | gold quality |
| lower esophagus | UBERON:0013473 | 76.77 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 2569.79 |
| E-GEOD-131882 | yes | 2189.97 |
| E-ANND-3 | no | 4.01 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NRF1
miRNA regulators (miRDB)
27 targeting ENOX1, 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-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-29B-2-5P | 99.67 | 68.98 | 1726 |
| HSA-MIR-12122 | 99.56 | 69.33 | 1672 |
| HSA-MIR-513C-5P | 99.50 | 68.42 | 1730 |
| HSA-MIR-514B-5P | 99.50 | 68.19 | 1766 |
| HSA-MIR-372-5P | 99.41 | 69.11 | 2299 |
| HSA-MIR-4318 | 99.38 | 66.94 | 1505 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
| HSA-MIR-525-5P | 99.35 | 66.85 | 1615 |
| HSA-MIR-410-3P | 99.27 | 69.98 | 2457 |
| HSA-MIR-4717-3P | 99.06 | 66.34 | 1072 |
| HSA-MIR-513B-3P | 98.76 | 68.12 | 1577 |
| HSA-MIR-7114-5P | 98.51 | 67.87 | 1349 |
| HSA-MIR-6773-3P | 98.17 | 65.51 | 1213 |
| HSA-MIR-127-5P | 97.78 | 67.64 | 869 |
| HSA-MIR-3137 | 97.26 | 66.78 | 761 |
| HSA-MIR-10398-5P | 97.12 | 64.94 | 1051 |
| HSA-MIR-215-3P | 97.02 | 68.01 | 1209 |
| HSA-MIR-616-3P | 96.82 | 66.99 | 784 |
| HSA-MIR-4436B-5P | 96.71 | 68.37 | 1346 |
| HSA-MIR-582-3P | 96.69 | 67.38 | 1019 |
Literature-anchored findings (GeneRIF, showing 4)
- copper-binding capacity, enzymatic activity, and time-keeping (clock) properties (PMID:19055324)
- These results indicate that this sequence variant in ENOX1 may contribute to the familial autoimmune myasthenia in these patients. (PMID:22744667)
- We verified that NRF-1 positively regulates FAM134C and ENOX1, and negatively regulates C3orf10 in human neuroblastoma IMR-32 cells and primary rat cortical neurons. (PMID:23939472)
- Clinical Significance of Serum Kallistatin and ENOX1 Levels in Patients with Coronary Heart Disease. (PMID:32712615)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | enox1 | ENSDARG00000060243 |
| mus_musculus | Enox1 | ENSMUSG00000022012 |
| rattus_norvegicus | Enox1 | ENSRNOG00000047817 |
| drosophila_melanogaster | CG10948 | FBGN0036317 |
Paralogs (1): ENOX2 (ENSG00000165675)
Protein
Protein identifiers
Ecto-NOX disulfide-thiol exchanger 1 — Q8TC92 (reviewed: Q8TC92)
Alternative names: Candidate growth-related and time keeping constitutive hydroquinone [NADH] oxidase, Cell proliferation-inducing gene 38 protein, Constitutive Ecto-NOX
All UniProt accessions (2): A0A024RDT8, Q8TC92
UniProt curated annotations — full annotation on UniProt →
Function. Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide-thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 24 minutes and play a role in control of the ultradian cellular biological clock.
Subcellular location. Cell membrane. Secreted. Extracellular space.
Tissue specificity. Expressed in lymphocyte cells, breast and breast cancer (at protein level). Found in the sera of cancer patients with a wide variety of cancers including breast, prostate, lung and ovarian cancers, leukemias, and lymphomas. Found also in the serum of healthy volunteers or patients with disorders other than cancer. Probably shed into serum by cancer cells.
Activity regulation. Not inhibited by the antitumor sulfonylurea LY181984, the vabilloid capsaicin, and retinoids.
Similarity. Belongs to the ENOX family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TC92-1 | 1 | yes |
| Q8TC92-2 | 2 |
RefSeq proteins (12): NP_001121087, NP_001229792, NP_001334892, NP_001334893, NP_001334894, NP_001334895, NP_001334896, NP_001334897, NP_001334898, NP_001334899, NP_001334900, NP_060463 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034140 | ENOX_RRM | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR038876 | ENOX1/2 | Family |
| IPR056611 | ENOX1/2_dom | Domain |
Pfam: PF00076, PF23267
UniProt features (10 total): splice variant 3, coiled-coil region 2, sequence conflict 2, chain 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TC92-F1 | 75.26 | 0.37 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 87 (showing top):
FREAC2_01, GCANCTGNY_MYOD_Q6, GOCC_CELL_SURFACE, AREB6_01, YY1_Q6, EVI1_05, YY1_02, MODULE_480, ONDER_CDH1_TARGETS_2_UP, GATA1_04, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H, chr13q14, MODULE_427, TGGAAA_NFAT_Q4_01, GCCATNTTG_YY1_Q6
GO Biological Process (2): ultradian rhythm (GO:0007624), rhythmic process (GO:0048511)
GO Molecular Function (6): RNA binding (GO:0003723), protein disulfide isomerase activity (GO:0003756), NADH dehydrogenase activity (GO:0003954), nucleic acid binding (GO:0003676), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (4): extracellular region (GO:0005576), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| cellular anatomical structure | 2 |
| rhythmic process | 1 |
| biological_process | 1 |
| nucleic acid binding | 1 |
| intramolecular oxidoreductase activity, transposing S-S bonds | 1 |
| catalytic activity, acting on a protein | 1 |
| oxidoreductase activity, acting on NAD(P)H | 1 |
| catalytic activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
Protein interactions and networks
STRING
616 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ENOX1 | CTIF | O43310 | 587 |
| ENOX1 | OR5M11 | Q96RB7 | 540 |
| ENOX1 | C10orf71 | Q711Q0 | 518 |
| ENOX1 | PMFBP1 | Q8TBY8 | 487 |
| ENOX1 | CCDC126 | Q96EE4 | 477 |
| ENOX1 | TMEM161B | Q8NDZ6 | 460 |
| ENOX1 | LHPP | Q9H008 | 460 |
| ENOX1 | TIGD4 | Q8IY51 | 447 |
| ENOX1 | ARHGAP28 | Q9P2N2 | 447 |
| ENOX1 | ASB17 | Q8WXJ9 | 437 |
| ENOX1 | L3MBTL2 | Q969R5 | 435 |
| ENOX1 | TOM1L1 | O75674 | 435 |
| ENOX1 | OLFM4 | Q6UX06 | 432 |
| ENOX1 | OR5AR1 | Q8NGP9 | 429 |
| ENOX1 | DPY19L3 | Q6ZPD9 | 422 |
IntAct
44 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ENOX1 | TRIM43 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZMYND19 | ENOX1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRIM43 | ENOX1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ENOX1 | ZMYND19 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LNX1 | ENOX1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ENOX1 | LNX1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ENOX1 | SDCBP | psi-mi:“MI:0915”(physical association) | 0.560 |
| ENOX1 | ENOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ENOX1 | GORASP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SDCBP | ENOX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GORASP2 | ENOX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ENOX1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| RPP25L | RPP40 | psi-mi:“MI:0914”(association) | 0.530 |
| SULT1E1 | ENOX1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ENOX1 | NIF3L1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZBTB16 | ENOX1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ENOX2 | ENOX1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Mis12 | psi-mi:“MI:0914”(association) | 0.350 | |
| Eef1a1 | ERLIN2 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| SRSF4 | psi-mi:“MI:0914”(association) | 0.350 | |
| SRSF5 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (26): ENOX1 (Two-hybrid), ENOX1 (Two-hybrid), ENOX1 (Two-hybrid), ZMYND19 (Two-hybrid), TRIM43 (Two-hybrid), ENOX1 (Affinity Capture-MS), ENOX1 (Two-hybrid), NIF3L1 (Two-hybrid), LNX1 (Two-hybrid), ENOX1 (Two-hybrid), ENOX1 (Two-hybrid), ENOX1 (Affinity Capture-MS), ENOX1 (Affinity Capture-MS), ENOX1 (Affinity Capture-RNA), ENOX1 (Affinity Capture-RNA)
ESM2 similar proteins: A5PJV0, A7YY73, F1QW76, O15525, O43150, O54790, O54791, O57337, O60675, P13096, P13097, P13098, P35428, P50538, P97496, Q01068, Q01069, Q01070, Q01071, Q01664, Q04666, Q05195, Q07291, Q07E41, Q108T9, Q14469, Q14582, Q16206, Q16520, Q3ZBG4, Q5FWS6, Q5PPM5, Q61827, Q674X7, Q6IRB2, Q6PBD4, Q76MX4, Q7Z3E5, Q8AVU4, Q8BHR2
Diamond homologs: A6NDY0, B0BNE4, B1WC40, B7P877, O13741, O14327, O75494, O89086, O93235, P07909, P40561, P41891, P42696, P48810, P52298, P53883, P98179, Q00916, Q02926, Q08208, Q09295, Q09301, Q15056, Q16206, Q177H0, Q1HE01, Q1JPH6, Q28165, Q28ZX3, Q3MHY8, Q3ZBJ1, Q499V6, Q54ZS8, Q56JZ7, Q5M9F1, Q5RBR8, Q5XFR0, Q5XI72, Q6C2Q7, Q6CKV6
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NRF1 | “up-regulates quantity by expression” | ENOX1 | “transcriptional regulation” |
| NRF1 | up-regulates | ENOX1 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
101 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 86 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
7466 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:43236630:CCTTA:C | donor_loss | 1.0000 |
| 13:43236631:CTTAC:C | donor_loss | 1.0000 |
| 13:43236632:TTACC:T | donor_loss | 1.0000 |
| 13:43236633:TACC:T | donor_loss | 1.0000 |
| 13:43236634:A:AC | donor_gain | 1.0000 |
| 13:43236634:ACCTA:A | donor_loss | 1.0000 |
| 13:43236635:C:CC | donor_gain | 1.0000 |
| 13:43236635:C:T | donor_loss | 1.0000 |
| 13:43269463:CACT:C | donor_loss | 1.0000 |
| 13:43269464:ACTT:A | donor_loss | 1.0000 |
| 13:43269466:TT:T | donor_loss | 1.0000 |
| 13:43269467:TAC:T | donor_loss | 1.0000 |
| 13:43269468:A:AC | donor_gain | 1.0000 |
| 13:43269468:A:C | donor_loss | 1.0000 |
| 13:43269469:C:CC | donor_gain | 1.0000 |
| 13:43269573:AATTG:A | acceptor_gain | 1.0000 |
| 13:43269575:TTG:T | acceptor_gain | 1.0000 |
| 13:43269576:TG:T | acceptor_gain | 1.0000 |
| 13:43298341:GGTAC:G | donor_loss | 1.0000 |
| 13:43298343:TAC:T | donor_loss | 1.0000 |
| 13:43298345:CCTG:C | donor_gain | 1.0000 |
| 13:43298526:CAGGG:C | acceptor_gain | 1.0000 |
| 13:43298527:AGGG:A | acceptor_gain | 1.0000 |
| 13:43298528:GGG:G | acceptor_gain | 1.0000 |
| 13:43298529:GG:G | acceptor_gain | 1.0000 |
| 13:43298531:C:CA | acceptor_loss | 1.0000 |
| 13:43298531:C:CC | acceptor_gain | 1.0000 |
| 13:43298532:T:C | acceptor_loss | 1.0000 |
| 13:43322379:ATTAC:A | donor_loss | 1.0000 |
| 13:43322497:AGCTC:A | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000004372 (13:43444117 C>G), RS1000009200 (13:43773390 C>T), RS1000010382 (13:43631847 G>C), RS1000012696 (13:43411210 TAGAGAGA>T), RS1000017495 (13:43320976 G>C), RS1000023233 (13:43277957 G>A), RS1000024226 (13:43725133 A>C), RS1000026741 (13:43456086 T>C), RS1000038481 (13:43323650 C>T), RS1000045351 (13:43217962 C>T), RS1000049035 (13:43713175 T>A), RS1000051149 (13:43406166 G>C), RS1000061790 (13:43397692 A>T), RS1000070851 (13:43406362 C>A), RS1000071593 (13:43573402 T>C,G)
Disease associations
OMIM: gene MIM:610914 | 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
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001476_12 | Response to tocilizumab in rheumatoid arthritis | 2.000000e-07 |
| GCST001798_16 | End-stage coagulation | 2.000000e-09 |
| GCST001850_22 | Major depressive disorder | 2.000000e-06 |
| GCST001850_45 | Major depressive disorder | 4.000000e-07 |
| GCST002927_3 | Mercury levels | 6.000000e-06 |
| GCST003992_15 | Photic sneeze reflex | 4.000000e-09 |
| GCST005839_43 | Depression | 3.000000e-08 |
| GCST008358_2 | Response to cognitive-behavioural therapy in anxiety and major depressive disorders | 5.000000e-06 |
| GCST009600_7 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 1.000000e-08 |
| GCST010605_11 | Parent of origin effect on receptive language ability (paternal) | 5.000000e-06 |
| GCST011768_10 | Schizophrenia | 5.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007887 | autosomal dominant compelling helio-ophthalmic outburst syndrome |
| EFO:0007820 | cognitive behavioural therapy |
| EFO:0005686 | receptive language perception |
| EFO:0005939 | parental genotype effect 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: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases methylation | 8 |
| Aflatoxin B1 | affects expression, affects methylation, decreases expression, decreases methylation | 7 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 4 |
| lasiocarpine | decreases expression | 2 |
| methyleugenol | decreases expression | 2 |
| N-Nitrosopyrrolidine | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| clothianidin | increases expression | 1 |
| quinocetone | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Decitabine | decreases expression, affects reaction | 1 |
| Panobinostat | affects cotreatment, increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| alpha-Chlorohydrin | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Demecolcine | increases expression | 1 |
| Dexamethasone | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Melphalan | decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Vincristine | increases 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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.