FMO2
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Summary
FMO2 (flavin containing dimethylaniline monoxygenase 2, HGNC:3770) is a protein-coding gene on chromosome 1q24.3, encoding Flavin-containing monooxygenase 2 (Q99518). Catalyzes the oxidative metabolism of numerous xenobiotics, including mainly therapeutic drugs and insecticides that contain a soft nucleophile, most commonly nitrogen and sulfur and participates to their bioactivation.
This gene encodes a flavin-containing monooxygenase family member. It is an NADPH-dependent enzyme that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, some human populations contain an allele (FMO2*2A) with a premature stop codon, resulting in a protein that is C-terminally-truncated, has no catalytic activity, and is likely degraded rapidly. This gene is found in a cluster with other related family members on chromosome 1. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 2327 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 4 total
- Druggable target: yes
- MANE Select transcript:
NM_001460
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3770 |
| Approved symbol | FMO2 |
| Name | flavin containing dimethylaniline monoxygenase 2 |
| Location | 1q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000094963 |
| Ensembl biotype | protein_coding |
| OMIM | 603955 |
| Entrez | 2327 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 5 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000209929, ENST00000462643, ENST00000483192, ENST00000488431, ENST00000489354, ENST00000493513, ENST00000529935, ENST00000895513, ENST00000895514, ENST00000945245
RefSeq mRNA: 3 — MANE Select: NM_001460
NM_001301347, NM_001365900, NM_001460
CCDS: CCDS1293
Canonical transcript exons
ENST00000209929 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001321274 | 171208794 | 171212686 |
| ENSE00001823058 | 171185300 | 171185359 |
| ENSE00003536750 | 171207718 | 171207790 |
| ENSE00003541886 | 171193335 | 171193523 |
| ENSE00003549156 | 171199346 | 171199488 |
| ENSE00003580370 | 171196649 | 171196811 |
| ENSE00003604976 | 171205279 | 171205634 |
| ENSE00003610243 | 171185708 | 171185845 |
| ENSE00003642194 | 171203865 | 171204064 |
Expression profiles
Bgee: expression breadth ubiquitous, 244 present calls, max score 99.08.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.4208 / max 161.6560, expressed in 177 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 6596 | 1.4208 | 177 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pericardium | UBERON:0002407 | 99.08 | gold quality |
| right lung | UBERON:0002167 | 98.93 | gold quality |
| lower lobe of lung | UBERON:0008949 | 98.69 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.95 | gold quality |
| mammary duct | UBERON:0001765 | 97.82 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.66 | gold quality |
| ascending aorta | UBERON:0001496 | 97.58 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 96.50 | gold quality |
| vena cava | UBERON:0004087 | 96.48 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 96.41 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 96.19 | gold quality |
| upper lobe of lung | UBERON:0008948 | 95.70 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 95.59 | gold quality |
| lung | UBERON:0002048 | 95.40 | gold quality |
| mammary gland | UBERON:0001911 | 95.29 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 95.28 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 94.66 | gold quality |
| omental fat pad | UBERON:0010414 | 94.59 | gold quality |
| peritoneum | UBERON:0002358 | 94.58 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 94.43 | gold quality |
| adipose tissue | UBERON:0001013 | 94.26 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.18 | gold quality |
| coronary artery | UBERON:0001621 | 94.03 | gold quality |
| left coronary artery | UBERON:0001626 | 94.03 | gold quality |
| cardiac atrium | UBERON:0002081 | 94.00 | gold quality |
| right atrium auricular region | UBERON:0006631 | 93.82 | gold quality |
| myocardium | UBERON:0002349 | 93.67 | gold quality |
| aorta | UBERON:0000947 | 93.65 | gold quality |
| superficial temporal artery | UBERON:0001614 | 93.43 | gold quality |
| tongue | UBERON:0001723 | 93.43 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-126 | yes | 1881.07 |
| E-GEOD-130148 | yes | 794.02 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
144 targeting FMO2, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| 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-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
Literature-anchored findings (GeneRIF, showing 8)
- analysis of flavin-containing monooxygenase isoform 2 (FMO2) polymorphisms in Hispanics (PMID:15864117)
- analysis of how the functional variant flavin-containing monooxygenase 2*1 is at high frequency throughout sub-Saharan Africa (PMID:18794725)
- Characterization of sulfoxygenation and structural implications of human flavin-containing monooxygenase isoform 2 (FMO2.1) variants S195L and N413K. (PMID:19420133)
- study provides an evidence for the existence of an evolutionary adaptation to an ancient disease based on an ancestral genetic variant acting in a FMO2 haplotypic framework in Ethiopian populations (PMID:28981537)
- The functional FMO2(427Q) isoform was active against nicotine; the truncated FMO2(Q472stop) isoform exhibited no enzyme activity. (PMID:30381441)
- Cancer-associated fibroblasts-derived FMO2 as a biomarker of macrophage infiltration and prognosis in epithelial ovarian cancer. (PMID:36114029)
- Flavin containing monooxygenase 2 regulates renal tubular cell fibrosis and paracrine secretion via SMURF2 in AKI-CKD transformation. (PMID:37800598)
- Discovery and identification of the prognostic significance and potential mechanism of FMO2 in breast cancer. (PMID:37963835)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Fmo2 | ENSMUSG00000040170 |
| rattus_norvegicus | Fmo2 | ENSRNOG00000003510 |
| caenorhabditis_elegans | WBGENE00001476 | |
| caenorhabditis_elegans | WBGENE00001478 | |
| caenorhabditis_elegans | WBGENE00001480 | |
| caenorhabditis_elegans | C01H6.4 | WBGENE00007254 |
| caenorhabditis_elegans | C46H11.2 | WBGENE00016728 |
Paralogs (5): FMO3 (ENSG00000007933), FMO1 (ENSG00000010932), FMO4 (ENSG00000076258), FOXRED2 (ENSG00000100350), FMO5 (ENSG00000131781)
Protein
Protein identifiers
Flavin-containing monooxygenase 2 — Q99518 (reviewed: Q99518)
Alternative names: Dimethylaniline oxidase 2, FMO 1B1, Pulmonary flavin-containing monooxygenase 2
All UniProt accessions (3): Q99518, A0A0D9SFZ0, A0A0D9SG76
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the oxidative metabolism of numerous xenobiotics, including mainly therapeutic drugs and insecticides that contain a soft nucleophile, most commonly nitrogen and sulfur and participates to their bioactivation. Specifically catalyzes S-oxygenation of sulfur derived compounds such as thioureas-derived compounds, thioetherorganophosphates to their sulfenic acid. In vitro, catalyzes S-oxygenation of the second-line antitubercular drugs thiacetazone (TAZ) and ethionamide (ETA), forming a sulfinic acid and a carbodiimide via a postulated sulfenic acid intermediate. Also catalyzes S-oxygenation of the thioether-containing organophosphate insecticides, phorate and disulfoton.
Subcellular location. Microsome membrane. Endoplasmic reticulum membrane.
Tissue specificity. Expressed in lung (at protein level). Expressed predominantly in lung, and at a much lesser extent in kidney. Also expressed in fetal lung, but not in liver, kidney and brain.
Polymorphism. The sequence shown is that of the allele FMO21. FMO22A is the major allele in the human population, however it encodes a truncated and catalytically inactive protein. FMO22A occurs in essentially 100% of Caucasians and Asians. FMO21 is present at a frequency of approximately 4% to 13% in the sample of population of African descent.
Similarity. Belongs to the FMO family.
RefSeq proteins (3): NP_001288276, NP_001352829, NP_001451* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000960 | Flavin_mOase | Family |
| IPR002254 | Flavin_mOase_2 | Family |
| IPR020946 | Flavin_mOase-like | Family |
| IPR036188 | FAD/NAD-bd_sf | Homologous_superfamily |
| IPR050346 | FMO-like | Family |
Pfam: PF00743
Enzyme classification (BRENDA):
- EC 1.14.13.8 — flavin-containing monooxygenase (BRENDA: 30 organisms, 458 substrates, 77 inhibitors, 260 Km, 123 kcat entries)
Substrate kinetics (BRENDA)
72 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| METHIMAZOLE | 0.007–0.5758 | 18 |
| TAMOXIFEN | 0.0013–0.121 | 15 |
| INDOLE | 0.005–0.9 | 13 |
| BENZYDAMINE | 0.0186–0.0659 | 11 |
| ETHIONAMIDE | 0.104–2.131 | 10 |
| METHYL P-TOLYL SULFIDE | 0.0048–10.2 | 10 |
| FENTHION | 0.145–0.351 | 9 |
| MERCAPTOIMIDAZOLE | 0.018–0.0527 | 9 |
| NADPH | 0.0031–0.132 | 9 |
| TRIMETHYLAMINE | 0.0015–0.58 | 9 |
| SULINDAC SULFIDE | 0.0101–0.0163 | 8 |
| CHLORPROMAZINE | 0.022–0.08 | 7 |
| IMIPRAMINE | 0.0047–0.02 | 7 |
| L-METHIONINE | 2.8–48 | 6 |
| 10-[(N,N-DIMETHYLAMINOOCTYL)-2-(TRIFLUOROMETHYL) | 15–38 | 5 |
UniProt features (23 total): sequence variant 11, binding site 6, initiator methionine 1, chain 1, cross-link 1, transmembrane region 1, sequence conflict 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99518-F1 | 95.26 | 0.89 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (6): 9–13; 32; 40–41; 60–61; 61–62; 195–198
Post-translational modifications (2): 492, 2
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-217271 | FMO oxidises nucleophiles |
MSigDB gene sets: 146 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_LIPID_MODIFICATION, REACTOME_BIOLOGICAL_OXIDATIONS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOBP_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_NADPPLUS_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, GOBP_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_REGULATION_OF_KETONE_METABOLIC_PROCESS, GOBP_TOXIN_METABOLIC_PROCESS
GO Biological Process (7): obsolete organic acid metabolic process (GO:0006082), NADP+ metabolic process (GO:0006739), xenobiotic metabolic process (GO:0006805), toxin metabolic process (GO:0009404), negative regulation of fatty acid oxidation (GO:0046322), oxygen metabolic process (GO:0072592), energy homeostasis (GO:0097009)
GO Molecular Function (5): N,N-dimethylaniline monooxygenase activity (GO:0004499), flavin adenine dinucleotide binding (GO:0050660), NADP binding (GO:0050661), monooxygenase activity (GO:0004497), oxidoreductase activity (GO:0016491)
GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), endoplasmic reticulum (GO:0005783)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Phase I - Functionalization of compounds | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metabolic process | 2 |
| purine nucleotide metabolic process | 1 |
| nicotinamide nucleotide metabolic process | 1 |
| cellular response to xenobiotic stimulus | 1 |
| secondary metabolic process | 1 |
| fatty acid oxidation | 1 |
| negative regulation of fatty acid metabolic process | 1 |
| regulation of fatty acid oxidation | 1 |
| multicellular organismal-level homeostasis | 1 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen | 1 |
| nucleotide binding | 1 |
| anion binding | 1 |
| adenyl nucleotide binding | 1 |
| oxidoreductase activity | 1 |
| catalytic activity | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1894 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FMO2 | ZNF888 | P0CJ79 | 398 |
| FMO2 | ABCC2 | Q92887 | 392 |
| FMO2 | LINC03043 | A4D0Y5 | 380 |
| FMO2 | CYP2F1 | P24903 | 350 |
| FMO2 | CCS | O14618 | 346 |
| FMO2 | ADH1B | P00325 | 335 |
| FMO2 | RHBDL2 | Q9NX52 | 324 |
| FMO2 | SNTN | A6NMZ2 | 320 |
| FMO2 | CYP2S1 | Q96SQ9 | 320 |
| FMO2 | TMEM212 | A6NML5 | 318 |
| FMO2 | CYGB | Q8WWM9 | 314 |
| FMO2 | NAT2 | P11245 | 307 |
| FMO2 | SVEP1 | Q4LDE5 | 304 |
| FMO2 | FAM216B | Q8N7L0 | 304 |
| FMO2 | TSPAN19 | P0C672 | 303 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FMO2 | GNB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FMO2 | STK38L | psi-mi:“MI:0915”(physical association) | 0.400 |
| FMO2 | bipA | psi-mi:“MI:0915”(physical association) | 0.370 |
| ilvC2 | FMO2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| FMO2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (4): GNB2 (Affinity Capture-MS), STK38L (Affinity Capture-MS), FMO2 (Two-hybrid), FMO2 (Affinity Capture-MS)
ESM2 similar proteins: A4IFM3, F4JJJ3, M1BYJ7, O14756, O49312, O54753, O60774, O64489, O88451, P16549, P17635, P17636, P31512, P31513, P32417, P36365, P36366, P36367, P49109, P49326, P49328, P50170, P50285, P97501, P97872, Q01740, Q04799, Q28505, Q3T001, Q5REK0, Q6IRI9, Q7YS44, Q8HYJ9, Q8HZ69, Q8HZ70, Q8K2I3, Q8K4B7, Q8K4C0, Q8SPQ7, Q8VHG0
Diamond homologs: A0A0B5RNJ4, A3SLM3, A3VVZ4, B6BQB2, B8EIZ7, O23024, O60774, P16549, P17635, P31512, P36365, P36366, P36367, P49326, P50285, P97872, Q01740, Q1V023, Q28505, Q5LT63, Q5REK0, Q6IRI9, Q8HZ69, Q8HZ70, Q8K2I3, Q8K4C0, Q8MP06, Q93Y23, Q99518, Q9C8U0, Q9FWW6, Q9SH25, Q9SS04, Q9SXD5, B8NM63, B8NM73, P32417, Q7YS44, Q8HYJ9, Q8SPQ7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
4 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 3 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1160 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:171185356:AAAGG:A | donor_loss | 1.0000 |
| 1:171185357:AAGG:A | donor_loss | 1.0000 |
| 1:171185358:AGGT:A | donor_loss | 1.0000 |
| 1:171185359:GGTAA:G | donor_loss | 1.0000 |
| 1:171185360:G:C | donor_loss | 1.0000 |
| 1:171185361:T:G | donor_loss | 1.0000 |
| 1:171185840:TTCA:T | donor_gain | 1.0000 |
| 1:171185844:AAG:A | donor_loss | 1.0000 |
| 1:171185845:AG:A | donor_loss | 1.0000 |
| 1:171185846:G:GG | donor_gain | 1.0000 |
| 1:171185846:G:T | donor_loss | 1.0000 |
| 1:171188966:G:GT | donor_gain | 1.0000 |
| 1:171188969:G:GG | donor_gain | 1.0000 |
| 1:171193329:CTTCA:C | acceptor_loss | 1.0000 |
| 1:171193330:TTCAG:T | acceptor_loss | 1.0000 |
| 1:171193331:TCA:T | acceptor_loss | 1.0000 |
| 1:171193332:CAGGA:C | acceptor_loss | 1.0000 |
| 1:171193333:A:AG | acceptor_gain | 1.0000 |
| 1:171193333:A:T | acceptor_loss | 1.0000 |
| 1:171193334:G:GG | acceptor_gain | 1.0000 |
| 1:171193334:GGA:G | acceptor_gain | 1.0000 |
| 1:171193334:GGAGA:G | acceptor_gain | 1.0000 |
| 1:171199467:GCTGA:G | donor_gain | 1.0000 |
| 1:171199468:C:G | donor_gain | 1.0000 |
| 1:171204046:GCCT:G | donor_gain | 1.0000 |
| 1:171204065:G:GG | donor_gain | 1.0000 |
| 1:171207786:GACCT:G | donor_gain | 1.0000 |
| 1:171207791:G:GG | donor_gain | 1.0000 |
| 1:171185360:G:GG | donor_gain | 0.9900 |
| 1:171185844:AA:A | donor_gain | 0.9900 |
AlphaMissense
3547 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:171196765:C:G | C146W | 0.990 |
| 1:171185834:T:A | W41R | 0.989 |
| 1:171185834:T:C | W41R | 0.989 |
| 1:171193394:A:C | K64N | 0.985 |
| 1:171193394:A:T | K64N | 0.985 |
| 1:171193389:A:C | S63R | 0.983 |
| 1:171193391:C:A | S63R | 0.983 |
| 1:171193391:C:G | S63R | 0.983 |
| 1:171196700:T:A | W125R | 0.979 |
| 1:171196700:T:C | W125R | 0.979 |
| 1:171199378:A:C | S173R | 0.979 |
| 1:171199380:C:A | S173R | 0.979 |
| 1:171199380:C:G | S173R | 0.979 |
| 1:171193410:A:C | S70R | 0.977 |
| 1:171193412:T:A | S70R | 0.977 |
| 1:171193412:T:G | S70R | 0.977 |
| 1:171185836:G:C | W41C | 0.975 |
| 1:171185836:G:T | W41C | 0.975 |
| 1:171196755:T:A | V143D | 0.975 |
| 1:171196763:T:C | C146R | 0.974 |
| 1:171193393:A:T | K64I | 0.972 |
| 1:171185803:C:G | C30W | 0.971 |
| 1:171193443:T:C | F81L | 0.971 |
| 1:171193445:C:A | F81L | 0.971 |
| 1:171193445:C:G | F81L | 0.971 |
| 1:171196764:G:A | C146Y | 0.970 |
| 1:171203874:A:C | S213R | 0.970 |
| 1:171203876:C:A | S213R | 0.970 |
| 1:171203876:C:G | S213R | 0.970 |
| 1:171185730:C:A | A6D | 0.969 |
dbSNP variants (sampled 300 via entrez): RS1000197051 (1:171201443 CCTT>C), RS1000255077 (1:171211147 A>C), RS1000297217 (1:171201778 A>C), RS1000497999 (1:171192532 C>A,T), RS1000614168 (1:171192747 C>T), RS1000669906 (1:171205942 G>T), RS1000680585 (1:171210286 G>A), RS1000860168 (1:171213174 A>G), RS1000865408 (1:171187122 A>C,G), RS1000942844 (1:171205345 G>C), RS1001214700 (1:171209363 T>C), RS1001268975 (1:171210363 T>G), RS1001294108 (1:171184582 C>A,T), RS1001500898 (1:171212803 A>G), RS1001582474 (1:171209025 G>A)
Disease associations
OMIM: gene MIM:603955 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3542432 (PROTEIN FAMILY)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 3 |
| Resveratrol | affects cotreatment, decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Nickel | decreases expression | 2 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| fluxapyroxad | decreases expression | 1 |
| 2-phenylphenol | decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| lasiocarpine | decreases expression | 1 |
| chlortoluron | decreases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| benzydamine N-oxide | increases chemical synthesis, increases oxidation | 1 |
| azoxystrobin | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| cyproconazole | decreases expression | 1 |
| Docetaxel | affects response to substance | 1 |
| Arsenic | increases abundance, decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Benzydamine | increases oxidation, increases chemical synthesis | 1 |
| Calcitriol | decreases expression | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethionamide | increases oxidation | 1 |
| Ethylenethiourea | increases oxidation, decreases oxidation | 1 |
| Methimazole | decreases oxidation, increases oxidation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Propranolol | increases oxidation | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | increases abundance, decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4153816 | ADMET | Drug metabolism in human hepatocytes assessed as formation of FMO-mediated N,N-Dimethyl-3-[[5-(3-methyl-2-oxo-1-tetrahydropyran-4-yl-imidazo[4,5c]quinolin-8-yl)-2-pyridyl]oxy]propan-1-amine oxide | The Identification of Potent, Selective, and Orally Available Inhibitors of Ataxia Telangiectasia Mutated (ATM) Kinase: The Discovery of AZD0156 (8-{6-[3-(Dimethylamino)propoxy]pyridin-3-yl}-3-methyl-1-(tetrahydro-2 H-pyran-4-yl)-1,3-dihydro-2 H-imidazo[4,5- c]quinolin-2-one). — 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.