NOX3
gene geneOn this page
Also known as GP91-3
Summary
NOX3 (NADPH oxidase 3, HGNC:7890) is a protein-coding gene on chromosome 6q25.3, encoding NADPH oxidase 3 (Q9HBY0). NADPH oxidase that catalyzes the generation of superoxide from molecular oxygen utilizing NADPH as an electron donor, upon formation of a complex with CYBA/p22phox.
This gene encodes a member of the NOX family of NADPH oxidases. These enzymes have the capacity to generate superoxide and other reactive oxygen species (ROS) and transport electrons across the plasma membrane. The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.
Source: NCBI Gene 50508 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 100 total
- Druggable target: yes
- MANE Select transcript:
NM_015718
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7890 |
| Approved symbol | NOX3 |
| Name | NADPH oxidase 3 |
| Location | 6q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GP91-3 |
| Ensembl gene | ENSG00000074771 |
| Ensembl biotype | protein_coding |
| OMIM | 607105 |
| Entrez | 50508 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000159060
RefSeq mRNA: 1 — MANE Select: NM_015718
NM_015718
CCDS: CCDS5250
Canonical transcript exons
ENST00000159060 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000765456 | 155407130 | 155407254 |
| ENSE00000765457 | 155411214 | 155411360 |
| ENSE00000765458 | 155422694 | 155422856 |
| ENSE00000765459 | 155428794 | 155429047 |
| ENSE00000765460 | 155430843 | 155430935 |
| ENSE00000765462 | 155436418 | 155436547 |
| ENSE00000765463 | 155439956 | 155440137 |
| ENSE00000765464 | 155443273 | 155443418 |
| ENSE00000765467 | 155455034 | 155455129 |
| ENSE00000813881 | 155395368 | 155395574 |
| ENSE00000813882 | 155396809 | 155396962 |
| ENSE00000813883 | 155453404 | 155453488 |
| ENSE00000813884 | 155454811 | 155454921 |
| ENSE00000813885 | 155455753 | 155455839 |
Expression profiles
Bgee: expression breadth tissue_specific, 4 present calls, max score 40.70.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0881 / max 78.5640, expressed in 19 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 76340 | 0.0539 | 9 |
| 76342 | 0.0226 | 7 |
| 76341 | 0.0048 | 1 |
| 76343 | 0.0045 | 2 |
| 76339 | 0.0024 | 1 |
Top tissues by expression
115 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 40.70 | gold quality |
| stromal cell of endometrium | CL:0002255 | 39.19 | gold quality |
| primary visual cortex | UBERON:0002436 | 37.48 | gold quality |
| colonic epithelium | UBERON:0000397 | 37.20 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| cortical plate | UBERON:0005343 | 36.47 | gold quality |
| bone marrow cell | CL:0002092 | 36.16 | gold quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| prefrontal cortex | UBERON:0000451 | 33.84 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 33.38 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 32.70 | gold quality |
| muscle tissue | UBERON:0002385 | 32.27 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| bone marrow | UBERON:0002371 | 31.74 | gold quality |
| frontal cortex | UBERON:0001870 | 31.06 | silver quality |
| cerebral cortex | UBERON:0000956 | 31.01 | silver quality |
| calcaneal tendon | UBERON:0003701 | 30.92 | gold quality |
| Ammon’s horn | UBERON:0001954 | 30.69 | silver quality |
| monocyte | CL:0000576 | 30.59 | gold quality |
| leukocyte | CL:0000738 | 30.32 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 29.16 | gold quality |
| liver | UBERON:0002107 | 29.01 | gold quality |
| urinary bladder | UBERON:0001255 | 28.77 | gold quality |
| adenohypophysis | UBERON:0002196 | 28.21 | gold quality |
| spleen | UBERON:0002106 | 28.15 | gold quality |
| duodenum | UBERON:0002114 | 28.14 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 27.91 | gold quality |
| lymph node | UBERON:0000029 | 27.57 | gold quality |
| placenta | UBERON:0001987 | 27.56 | gold quality |
| right frontal lobe | UBERON:0002810 | 27.12 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.76 |
| E-HCAD-30 | no | 96.66 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
21 targeting NOX3, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-7156-5P | 99.64 | 68.81 | 1369 |
| HSA-MIR-6739-3P | 99.22 | 68.84 | 1843 |
| HSA-MIR-367-5P | 98.84 | 67.18 | 902 |
| HSA-MIR-1267 | 98.24 | 69.05 | 837 |
| HSA-MIR-6880-5P | 98.08 | 65.59 | 1282 |
| HSA-MIR-3116 | 97.07 | 65.78 | 1324 |
| HSA-MIR-6726-5P | 95.97 | 63.72 | 841 |
| HSA-MIR-920 | 95.97 | 63.95 | 811 |
| HSA-MIR-4300 | 95.85 | 64.56 | 1003 |
| HSA-MIR-5591-5P | 95.85 | 64.76 | 1002 |
Literature-anchored findings (GeneRIF, showing 13)
- Nox3 is regulated by NOXO1, p47phox, and p67phox (PMID:15181005)
- Nox3 functions together with p22(phox) as an enzyme constitutively producing superoxide (PMID:15824103)
- Rac1 regulates both oxidases Nox1 and Nox3 through the Nox activators (PMID:16507994)
- In conclusion, the results demonstrate that NOX3, a reactive oxygen species generating NADPH oxidase, plays an integral role in insulin-induced p42/44 Mitogen-activated protein kinase signal transmission and VEGF-A production. (PMID:16949073)
- Roles for p22phox at several distinct points in the maturation and assembly of a functionally competent Nox3 in the plasma membrane. (PMID:17140397)
- Potential candidate genes in these regions that have been implicated in diabetic nephropathy and/or renal damage in models of hypertension include CYBA (or P22PHOX) (16q24), NOX1 (10q22), and NOX3 (6q25.1-q26). (PMID:17336700)
- Down-regulation of NOX3 using siRNA prevented TNF-alpha-induced decrease of cellular glycogen. (PMID:20102709)
- palmitate-induced ROS generation and that NOX3-derived ROS may drive palmitate-induced hepatic insulin resistance through JNK and p38(MAPK) pathways. (PMID:20647313)
- Reduced matrigel invasion was mediated by reduced ROS levels coinciding with decreased expression of NADPH oxidase 2, 3, 4 and 5 involved in ROS production. (PMID:21901141)
- In lung transplants, our study highlights a donor-recipient interaction of NOX3 and NFE2L2 that increases the risk of PGD. (PMID:25439478)
- genetic variants in NOX3 may confer susceptibility to antithyroid drug-induced apoptosis of granulocytes. (PMID:28486791)
- The results suggested that rs6557421 variant in Nox3 and rs3744439 variant in Tbx4 might have potential effect on individual susceptibility to pulmonary hypertension. (PMID:30290780)
- Associations of noise kurtosis, genetic variations in NOX3 and lifestyle factors with noise-induced hearing loss. (PMID:32014026)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Nox3 | ENSMUSG00000023802 |
| rattus_norvegicus | Nox3 | ENSRNOG00000016490 |
Paralogs (6): NOX1 (ENSG00000007952), NOX4 (ENSG00000086991), DUOX1 (ENSG00000137857), DUOX2 (ENSG00000140279), CYBB (ENSG00000165168), NOX5 (ENSG00000255346)
Protein
Protein identifiers
NADPH oxidase 3 — Q9HBY0 (reviewed: Q9HBY0)
Alternative names: Mitogenic oxidase 2, gp91phox homolog 3
All UniProt accessions (1): Q9HBY0
UniProt curated annotations — full annotation on UniProt →
Function. NADPH oxidase that catalyzes the generation of superoxide from molecular oxygen utilizing NADPH as an electron donor, upon formation of a complex with CYBA/p22phox. Plays a role in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.
Subunit / interactions. Interacts with CYBA/p22phox. Heterodimerization with CYBA/p22phox is essential for its activity and cell membrane localization.
Subcellular location. Cell membrane.
Post-translational modifications. N-glycosylated in a CYBA/p22phox-dependent manner.
Activity regulation. Activated by the ototoxic drug cisplatin. Activated by NOXO1. Cooperatively activated by NCF1 and NCF2 or NOXA1 in a phorbol 12-myristate 13-acetate (PMA)-dependent manner. Inhibited by diphenyleneiodonium chloride.
RefSeq proteins (1): NP_056533* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000778 | Cyt_b245_heavy_chain | Family |
| IPR013112 | FAD-bd_8 | Domain |
| IPR013121 | Fe_red_NAD-bd_6 | Domain |
| IPR013130 | Fe3_Rdtase_TM_dom | Domain |
| IPR017927 | FAD-bd_FR_type | Domain |
| IPR017938 | Riboflavin_synthase-like_b-brl | Homologous_superfamily |
| IPR039261 | FNR_nucleotide-bd | Homologous_superfamily |
| IPR050369 | RBOH/FRE | Family |
Pfam: PF01794, PF08022, PF08030
Catalyzed reactions (Rhea), 1 shown:
- NADPH + 2 O2 = 2 superoxide + NADP(+) + H(+) (RHEA:63180)
UniProt features (21 total): topological domain 7, transmembrane region 6, domain 2, glycosylation site 2, chain 1, sequence variant 1, mutagenesis site 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HBY0-F1 | 89.84 | 0.66 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (2): 163, 238
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 413 | loss of catalytic activity. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-5668599 | RHO GTPases Activate NADPH Oxidases |
| R-HSA-9013149 | RAC1 GTPase cycle |
| R-HSA-9013423 | RAC3 GTPase cycle |
MSigDB gene sets: 67 (showing top):
RRAGTTGT_UNKNOWN, GOBP_SUPEROXIDE_METABOLIC_PROCESS, GOBP_RESPONSE_TO_GRAVITY, chr6q25, GOBP_EAR_DEVELOPMENT, NF1_Q6_01, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, TATA_C, AACTTT_UNKNOWN, GOBP_DETECTION_OF_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_SUPEROXIDE_ANION_GENERATION, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H, GOBP_SENSORY_ORGAN_DEVELOPMENT
GO Biological Process (6): temperature homeostasis (GO:0001659), defense response (GO:0006952), detection of gravity (GO:0009590), superoxide anion generation (GO:0042554), otolith development (GO:0048840), response to gravity (GO:0009629)
GO Molecular Function (8): NAD(P)H oxidase H2O2-forming activity (GO:0016174), superoxide-generating NAD(P)H oxidase activity (GO:0016175), heme binding (GO:0020037), metal ion binding (GO:0046872), superoxide-generating NADPH oxidase activity (GO:0106292), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor (GO:0050664)
GO Cellular Component (5): cytoplasm (GO:0005737), plasma membrane (GO:0005886), NADPH oxidase complex (GO:0043020), extracellular exosome (GO:0070062), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 2 |
| RHO GTPase Effectors | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor | 2 |
| cellular anatomical structure | 2 |
| multicellular organismal-level homeostasis | 1 |
| response to stress | 1 |
| detection of external stimulus | 1 |
| detection of abiotic stimulus | 1 |
| response to gravity | 1 |
| superoxide metabolic process | 1 |
| inner ear development | 1 |
| anatomical structure development | 1 |
| response to abiotic stimulus | 1 |
| tetrapyrrole binding | 1 |
| cation binding | 1 |
| superoxide-generating NAD(P)H oxidase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| oxidoreductase activity, acting on NAD(P)H | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane protein complex | 1 |
| oxidoreductase complex | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
902 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NOX3 | CYBA | P13498 | 996 |
| NOX3 | NOXO1 | Q8NFA2 | 992 |
| NOX3 | NOX5 | Q96PH1 | 986 |
| NOX3 | CYBB | P04839 | 982 |
| NOX3 | NOX4 | Q9NPH5 | 982 |
| NOX3 | NOX1 | Q9Y5S8 | 982 |
| NOX3 | DUOX1 | Q9NRD9 | 981 |
| NOX3 | NOXA1 | Q86UR1 | 971 |
| NOX3 | NCF2 | P19878 | 964 |
| NOX3 | NCF1 | P14598 | 956 |
| NOX3 | DUOX2 | Q9NRD8 | 888 |
| NOX3 | NCF4 | Q15080 | 856 |
| NOX3 | OC90 | Q02509 | 784 |
| NOX3 | SH3PXD2B | A1X283 | 747 |
| NOX3 | SH3PXD2A | Q5TCZ1 | 738 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CYBC1 | NOX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BRAF | NOX3 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FBXW7 | NOX3 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SMAD4 | NOX3 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SPOP | NOX3 | psi-mi:“MI:2364”(proximity) | 0.270 |
| NOX3 | SPOP | psi-mi:“MI:2364”(proximity) | 0.270 |
| NOX3 | EGFR | psi-mi:“MI:2364”(proximity) | 0.270 |
| NOX3 | PTEN | psi-mi:“MI:2364”(proximity) | 0.270 |
| NOX3 | PTPN11 | psi-mi:“MI:2364”(proximity) | 0.270 |
| NOX3 | TP53 | psi-mi:“MI:2364”(proximity) | 0.270 |
| NOX3 | AKT1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CYBC1 | NOX3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (1): C17orf62 (Two-hybrid)
ESM2 similar proteins: A2AE42, A3A9H6, A3KPR5, A5D9A7, C4IYS8, O14569, P10897, P34465, P49447, Q3T130, Q497B2, Q4V8K1, Q503V1, Q53TN4, Q5CZL8, Q5E965, Q5RAJ4, Q5RCZ2, Q5RKJ2, Q5RKL5, Q5U2W7, Q60720, Q641Y1, Q658P3, Q67ZF6, Q687X5, Q6DDR3, Q6I681, Q6P1H1, Q6ZNA5, Q7XMK3, Q8CI59, Q8L856, Q8N8Q1, Q8NBI2, Q8VCZ2, Q91577, Q923B6, Q925G2, Q95204
Diamond homologs: O46522, O48538, O81210, O81211, P04839, P52649, Q2HXK9, Q2HXL0, Q5R5C5, Q5ZAJ0, Q61093, Q672J9, Q672K1, Q6J2K5, Q86GL4, Q8CIZ9, Q924V1, Q948T9, Q95L74, Q9FIJ0, Q9HBY0, Q9JHI8, Q9NPH5, Q9SBI0, Q9SW17, Q9WV87, Q9XYS3, Q9Y5S8, Q948U0, Q9NRD8, O81209, Q9NRD9, Q8CIY2, Q8HZK2, Q8HZK3, Q9MZF4, Q54F44, Q8VY13, Q8W110, Q96PH1
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NOXA1 | “up-regulates activity” | NOX3 | binding |
| NOX3 | up-regulates | ROS | |
| NOX3 | “up-regulates quantity” | superoxide | “chemical modification” |
| NCF1 | “up-regulates activity” | NOX3 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
100 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 89 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2285 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:155443271:A:AC | donor_gain | 1.0000 |
| 6:155443272:C:CC | donor_gain | 1.0000 |
| 6:155453487:CA:C | acceptor_gain | 1.0000 |
| 6:155453489:C:CC | acceptor_gain | 1.0000 |
| 6:155454926:CCACA:C | acceptor_gain | 1.0000 |
| 6:155454927:CACA:C | acceptor_gain | 1.0000 |
| 6:155454929:CA:C | acceptor_gain | 1.0000 |
| 6:155454930:A:AC | acceptor_gain | 1.0000 |
| 6:155454930:A:C | acceptor_gain | 1.0000 |
| 6:155455028:ACTT:A | donor_loss | 1.0000 |
| 6:155455029:CTTA:C | donor_loss | 1.0000 |
| 6:155455032:A:AC | donor_gain | 1.0000 |
| 6:155455032:A:AT | donor_loss | 1.0000 |
| 6:155455032:ACAC:A | donor_gain | 1.0000 |
| 6:155455032:ACACC:A | donor_gain | 1.0000 |
| 6:155455033:C:CC | donor_gain | 1.0000 |
| 6:155455033:CA:C | donor_gain | 1.0000 |
| 6:155455033:CACC:C | donor_gain | 1.0000 |
| 6:155455033:CACCC:C | donor_gain | 1.0000 |
| 6:155455126:AGAGC:A | acceptor_loss | 1.0000 |
| 6:155455127:GAGC:G | acceptor_loss | 1.0000 |
| 6:155455128:AGCT:A | acceptor_loss | 1.0000 |
| 6:155455129:GCTAG:G | acceptor_loss | 1.0000 |
| 6:155455130:C:CC | acceptor_gain | 1.0000 |
| 6:155455131:T:A | acceptor_loss | 1.0000 |
| 6:155455749:TTA:T | donor_loss | 1.0000 |
| 6:155455750:TA:T | donor_loss | 1.0000 |
| 6:155455751:A:AC | donor_gain | 1.0000 |
| 6:155455752:C:CG | donor_gain | 1.0000 |
| 6:155455752:CT:C | donor_gain | 1.0000 |
AlphaMissense
3717 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:155436436:A:C | F260L | 0.982 |
| 6:155436436:A:T | F260L | 0.982 |
| 6:155436438:A:G | F260L | 0.982 |
| 6:155407170:A:G | W514R | 0.981 |
| 6:155407170:A:T | W514R | 0.981 |
| 6:155436437:A:G | F260S | 0.975 |
| 6:155454902:C:G | R55P | 0.973 |
| 6:155428933:G:C | H336D | 0.968 |
| 6:155454899:G:T | A56E | 0.968 |
| 6:155455123:A:G | W19R | 0.967 |
| 6:155455123:A:T | W19R | 0.967 |
| 6:155454874:G:C | N64K | 0.966 |
| 6:155454874:G:T | N64K | 0.966 |
| 6:155454884:A:G | L61P | 0.966 |
| 6:155430926:A:G | W270R | 0.964 |
| 6:155430926:A:T | W270R | 0.964 |
| 6:155436437:A:C | F260C | 0.964 |
| 6:155454909:A:G | W53R | 0.962 |
| 6:155454909:A:T | W53R | 0.962 |
| 6:155411348:A:G | W441R | 0.961 |
| 6:155411348:A:T | W441R | 0.961 |
| 6:155411238:A:C | F477L | 0.960 |
| 6:155411238:A:T | F477L | 0.960 |
| 6:155411240:A:G | F477L | 0.960 |
| 6:155411318:A:G | W451R | 0.960 |
| 6:155411318:A:T | W451R | 0.960 |
| 6:155436469:C:A | W249C | 0.960 |
| 6:155436469:C:G | W249C | 0.960 |
| 6:155428925:G:C | F338L | 0.959 |
| 6:155428925:G:T | F338L | 0.959 |
dbSNP variants (sampled 300 via entrez): RS1000100450 (6:155419305 T>C,G), RS1000107379 (6:155444137 T>G), RS1000145454 (6:155430305 C>T), RS1000184232 (6:155433737 G>A), RS1000204584 (6:155419860 T>A,C), RS1000246185 (6:155413562 C>T), RS1000268721 (6:155451368 A>T), RS1000333444 (6:155449602 C>T), RS1000407278 (6:155439128 T>C), RS1000417974 (6:155445127 A>C,G), RS1000470519 (6:155395640 A>G,T), RS1000479326 (6:155425160 A>G), RS1000504898 (6:155401888 G>A,C,T), RS1000613270 (6:155457465 A>G), RS1000623817 (6:155440518 A>G)
Disease associations
OMIM: gene MIM:607105 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003127_7 | Lipoprotein (a) levels | 1.000000e-09 |
| GCST004749_107 | Lung cancer in ever smokers | 7.000000e-06 |
| GCST005756_4 | Dimensional psychopathology (Negative) | 1.000000e-06 |
| GCST005758_3 | Dimensional psychopathology (Arousal) | 9.000000e-07 |
| GCST007297_18 | Psychological distress | 6.000000e-06 |
| GCST008529_63 | Tea consumption | 2.000000e-06 |
| GCST009391_214 | Metabolite levels | 4.000000e-06 |
| GCST010135_22 | Oily fish consumption | 8.000000e-10 |
| GCST010140_14 | Pork consumption | 8.000000e-10 |
| GCST010988_381 | Adult body size | 5.000000e-09 |
| GCST90000582_16 | Spontaneous coronary artery dissection | 1.000000e-06 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006925 | lipoprotein A measurement |
| EFO:0009096 | negative domain measurement |
| EFO:0009099 | arousal domain measurement |
| EFO:0007006 | depressive symptom measurement |
| EFO:0010091 | tea consumption measurement |
| EFO:0008111 | diet measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL1741216 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs200245496 | NOX3 | 0.00 | 0 | ||
| rs117412760 | NOX3 | 0.00 | 0 |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — NADPH oxidases
ChEMBL bioactivities
6 potent at pChembl≥5 of 7 total, top 5 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.90 | IC50 | 1250 | nM | CHEMBL5220686 |
| 5.52 | IC50 | 3000 | nM | CHEMBL407734 |
| 5.50 | IC50 | 3200 | nM | CHEMBL5218591 |
| 5.50 | IC50 | 3200 | nM | CHEMBL5398181 |
| 5.12 | IC50 | 7500 | nM | CHEMBL541018 |
PubChem BioAssay actives
4 with measured affinity, of 5 total; 4 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 |
|---|---|---|---|---|
| 2-N-(3,4-dimethylphenyl)-6-[[4-(3-methoxyphenyl)piperazin-1-yl]methyl]-1,3,5-triazine-2,4-diamine | 1917071: Inhibition of human NOX3 | ic50 | 1.2500 | uM |
| 1-(10H-phenothiazin-2-yl)ethanone | 2013297: Inhibition of human NOX3 transfected in HEK293T cells incubated for 16 hrs ans measured after 30 mins by luminol-chemiluminescence based assay | ic50 | 3.0000 | uM |
| 2-N-(3,4-dimethylphenyl)-6-[[4-(4-methylphenyl)piperazin-1-yl]methyl]-1,3,5-triazine-2,4-diamine | 2013309: Inhibition of NOX3 (unknown origin) | ic50 | 3.2000 | uM |
| 2-N-(3,4-dimethylphenyl)-6-[4-(4-methylphenyl)piperazin-1-yl]-1,3,5-triazine-2,4-diamine | 1917071: Inhibition of human NOX3 | ic50 | 3.2000 | uM |
CTD chemical–gene interactions
12 total (human), top 12 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| chromium hexavalent ion | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Progesterone | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Palmitic Acid | increases expression | 1 |
ChEMBL screening assays
5 unique, capped per target: 4 binding, 1 unclassified
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1738360 | Unclassified | PUBCHEM_BIOASSAY: Late stage results from the probe development effort to identify inhibitors of (NADPH oxidase 1) NOX1: Family selectivity: Set 2. (Class of assay: confirmatory) [Related pubchem assays (depositor defined):AID1792, AID1796, | PubChem BioAssay data set |
| CHEMBL5216593 | Binding | Inhibition of human NOX3 | A closer look at N2,6-substituted 1,3,5-triazine-2,4-diamines: Advances in synthesis and biological activities. — Eur J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.