FMO4
geneOn this page
Summary
FMO4 (flavin containing dimethylaniline monoxygenase 4, HGNC:3772) is a protein-coding gene on chromosome 1q24.3, encoding Dimethylaniline monooxygenase [N-oxide-forming] 4 (P31512). This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides.
Metabolic N-oxidation of diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man. This results in a small subpopulation with reduced TMA N-oxidation capacity and causes fish odor syndrome (Trimethylaminuria). Three forms of the enzyme are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics.
Source: NCBI Gene 2329 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 98 total
- Phenotypes (HPO): 1
- Druggable target: yes
- Dosage sensitivity (ClinGen): haploinsufficiency dosage sensitivity unlikely, triplosensitivity no evidence
- MANE Select transcript:
NM_002022
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3772 |
| Approved symbol | FMO4 |
| Name | flavin containing dimethylaniline monoxygenase 4 |
| Location | 1q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000076258 |
| Ensembl biotype | protein_coding |
| OMIM | 136131 |
| Entrez | 2329 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 12 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000367749, ENST00000462992, ENST00000475780, ENST00000480136, ENST00000497228, ENST00000853709, ENST00000853710, ENST00000853711, ENST00000853712, ENST00000853713, ENST00000853714, ENST00000853715, ENST00000853716, ENST00000919758, ENST00000959333, ENST00000959334
RefSeq mRNA: 1 — MANE Select: NM_002022
NM_002022
CCDS: CCDS1295
Canonical transcript exons
ENST00000367749 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000789750 | 171332709 | 171332908 |
| ENSE00000789751 | 171334411 | 171334763 |
| ENSE00001022028 | 171316186 | 171316327 |
| ENSE00001445542 | 171341413 | 171342084 |
| ENSE00003548928 | 171323004 | 171323192 |
| ENSE00003587017 | 171319818 | 171319957 |
| ENSE00003679873 | 171331640 | 171331782 |
| ENSE00003680340 | 171324138 | 171324300 |
| ENSE00003681912 | 171337356 | 171337425 |
| ENSE00003842448 | 171314183 | 171314413 |
Expression profiles
Bgee: expression breadth ubiquitous, 202 present calls, max score 89.40.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.4208 / max 161.6560, expressed in 177 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 6605 | 1.7960 | 864 |
| 6606 | 1.4397 | 704 |
| 6596 | 1.4208 | 177 |
| 6604 | 0.6397 | 377 |
| 6594 | 0.0709 | 36 |
| 6595 | 0.0695 | 33 |
Top tissues by expression
270 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nephron tubule | UBERON:0001231 | 89.40 | gold quality |
| right lobe of liver | UBERON:0001114 | 88.07 | gold quality |
| ileal mucosa | UBERON:0000331 | 87.88 | gold quality |
| liver | UBERON:0002107 | 86.99 | gold quality |
| kidney epithelium | UBERON:0004819 | 86.92 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.46 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 85.37 | gold quality |
| kidney | UBERON:0002113 | 84.71 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.55 | gold quality |
| renal glomerulus | UBERON:0000074 | 83.25 | gold quality |
| cortex of kidney | UBERON:0001225 | 82.67 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 82.47 | gold quality |
| ascending aorta | UBERON:0001496 | 81.41 | gold quality |
| thoracic aorta | UBERON:0001515 | 81.29 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 81.24 | gold quality |
| hair follicle | UBERON:0002073 | 81.00 | gold quality |
| calcaneal tendon | UBERON:0003701 | 80.72 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 79.81 | gold quality |
| apex of heart | UBERON:0002098 | 79.71 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 79.63 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 79.53 | silver quality |
| aorta | UBERON:0000947 | 79.22 | gold quality |
| left coronary artery | UBERON:0001626 | 79.06 | gold quality |
| pancreatic ductal cell | CL:0002079 | 79.00 | silver quality |
| germinal epithelium of ovary | UBERON:0001304 | 78.45 | gold quality |
| right uterine tube | UBERON:0001302 | 78.17 | gold quality |
| coronary artery | UBERON:0001621 | 78.13 | gold quality |
| popliteal artery | UBERON:0002250 | 77.80 | gold quality |
| tibial artery | UBERON:0007610 | 77.77 | gold quality |
| duodenum | UBERON:0002114 | 77.66 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.63 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOS
miRNA regulators (miRDB)
42 targeting FMO4, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-10395-5P | 99.86 | 67.35 | 676 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-154-3P | 99.50 | 70.05 | 831 |
| HSA-MIR-487A-3P | 99.50 | 69.95 | 840 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-6797-3P | 99.17 | 66.94 | 668 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-6510-5P | 99.14 | 66.59 | 1081 |
Functional genomics
ClinGen dosage: haploinsufficiency 40 (dosage sensitivity unlikely), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 1)
- Data show a compelling visual demonstration of the isoform-specific localization patterns of FMO1, -3, and -4 in the rat liver and kidney and the first evidence for expression of FMO4 at the protein level in mouse and human liver and kidney microsomes. (PMID:19307449)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Fmo4 | ENSMUSG00000026692 |
| rattus_norvegicus | Fmo4 | ENSRNOG00000003400 |
| 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), FMO2 (ENSG00000094963), FOXRED2 (ENSG00000100350), FMO5 (ENSG00000131781)
Protein
Protein identifiers
Dimethylaniline monooxygenase [N-oxide-forming] 4 — P31512 (reviewed: P31512)
Alternative names: Dimethylaniline oxidase 4, Hepatic flavin-containing monooxygenase 4
All UniProt accessions (1): P31512
UniProt curated annotations — full annotation on UniProt →
Function. This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides.
Subcellular location. Microsome membrane. Endoplasmic reticulum membrane.
Tissue specificity. Liver.
Similarity. Belongs to the FMO family.
RefSeq proteins (1): NP_002013* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000960 | Flavin_mOase | Family |
| IPR002256 | Flavin_mOase_4 | 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 |
Catalyzed reactions (Rhea), 1 shown:
- N,N-dimethylaniline + NADPH + O2 + H(+) = N,N-dimethylaniline N-oxide + NADP(+) + H2O (RHEA:24468)
UniProt features (15 total): sequence variant 8, binding site 5, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P31512-F1 | 91.52 | 0.81 |
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 (5): 9–13; 32; 40–41; 60–61; 195–198
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 226 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_LIPID_MODIFICATION, E2F_Q4, MODULE_93, E2F_Q4_01, REACTOME_BIOLOGICAL_OXIDATIONS, E2F4DP1_01, 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, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, KYNG_DNA_DAMAGE_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS
GO Biological Process (4): xenobiotic metabolic process (GO:0006805), xenobiotic catabolic process (GO:0042178), negative regulation of fatty acid oxidation (GO:0046322), energy homeostasis (GO:0097009)
GO Molecular Function (6): N,N-dimethylaniline monooxygenase activity (GO:0004499), flavin adenine dinucleotide binding (GO:0050660), NADP binding (GO:0050661), monooxygenase activity (GO:0004497), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metabolic process | 1 |
| cellular response to xenobiotic stimulus | 1 |
| xenobiotic metabolic process | 1 |
| catabolic 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 |
| binding | 1 |
| catalytic activity | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1682 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FMO4 | LINC03043 | A4D0Y5 | 380 |
| FMO4 | CYP2S1 | Q96SQ9 | 375 |
| FMO4 | ADH1B | P00325 | 354 |
| FMO4 | SLC10A1 | Q14973 | 350 |
| FMO4 | CYP2F1 | P24903 | 350 |
| FMO4 | CCS | O14618 | 346 |
| FMO4 | CYP2C8 | P10632 | 345 |
| FMO4 | ABCC2 | Q92887 | 320 |
| FMO4 | CYP4B1 | P13584 | 319 |
| FMO4 | TMEM212 | A6NML5 | 306 |
| FMO4 | SLCO5A1 | Q9H2Y9 | 303 |
| FMO4 | SLCO2A1 | Q92959 | 303 |
| FMO4 | SLCO3A1 | Q9UIG8 | 303 |
| FMO4 | SLCO6A1 | Q86UG4 | 303 |
| FMO4 | CTXN2 | P0C2S0 | 301 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FMO4 | RHBDD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FMO1 | LDHC | psi-mi:“MI:0914”(association) | 0.350 |
| FMO4 | RHBDD2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (4): FMO4 (Two-hybrid), FMO4 (Affinity Capture-MS), FMO4 (Affinity Capture-MS), FMO4 (Proximity Label-MS)
ESM2 similar proteins: A4IFM3, O14756, O54753, O54909, O55240, O60774, O75452, O75828, O88451, P16549, P17636, P31512, P32417, P36365, P36367, P49109, P50170, P50285, P55006, P97501, P97872, Q01740, Q0IH28, Q0VFE7, Q27979, Q3T001, Q3T0R4, Q566S6, Q58NB6, Q5R6U1, Q5R7A2, Q6IAN0, Q6IRI9, Q8HYJ9, Q8HYR6, Q8K2I3, Q8K3P0, Q8K4C0, Q8L9C4, Q8N5I4
Diamond homologs: A8MRX0, P31512, P63534, P9WN18, P9WN19, P9WQ14, P9WQ15, Q03460, Q05756, Q0DG35, Q0JKD0, Q28505, Q93Y23, Q94BV5, Q94K43, Q9C8T8, Q9C8U0, Q9FF12, Q9FLK4, Q9FWW3, Q9FWW6, Q9FWW9, Q9HFE4, Q9LV03, Q9RKB5, Q9SH25, Q9SS04, Q9SXD5, Q9SXD9, Q9SXE1, A0A0B5RNJ4, A3SLM3, A3VVZ4, B6BQB2, B8ANW0, B8EIZ7, P38866, Q10RE2, Q1V023, Q5LT63
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
98 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 76 |
| Likely benign | 6 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1758 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:171319923:G:GT | donor_gain | 1.0000 |
| 1:171319948:G:GT | donor_gain | 1.0000 |
| 1:171332855:G:GT | donor_gain | 1.0000 |
| 1:171341412:GGGGA:G | acceptor_gain | 1.0000 |
| 1:171314410:CAAGG:C | donor_loss | 0.9900 |
| 1:171314411:AAGG:A | donor_loss | 0.9900 |
| 1:171319929:A:AG | donor_gain | 0.9900 |
| 1:171319958:G:GG | donor_gain | 0.9900 |
| 1:171324136:A:AG | acceptor_gain | 0.9900 |
| 1:171324137:G:GG | acceptor_gain | 0.9900 |
| 1:171324298:CTGGT:C | donor_loss | 0.9900 |
| 1:171324299:TGGTG:T | donor_loss | 0.9900 |
| 1:171324301:G:GA | donor_loss | 0.9900 |
| 1:171324302:TGA:T | donor_loss | 0.9900 |
| 1:171324303:GAGT:G | donor_loss | 0.9900 |
| 1:171324304:AGT:A | donor_loss | 0.9900 |
| 1:171332890:GAT:G | donor_gain | 0.9900 |
| 1:171332892:T:TG | donor_gain | 0.9900 |
| 1:171337350:CCACA:C | acceptor_loss | 0.9900 |
| 1:171337351:CACAG:C | acceptor_loss | 0.9900 |
| 1:171337352:ACAGG:A | acceptor_loss | 0.9900 |
| 1:171337353:CAG:C | acceptor_loss | 0.9900 |
| 1:171337354:AGGAC:A | acceptor_loss | 0.9900 |
| 1:171337355:G:T | acceptor_loss | 0.9900 |
| 1:171337421:AAAAG:A | donor_loss | 0.9900 |
| 1:171337422:AAAG:A | donor_loss | 0.9900 |
| 1:171337423:AAG:A | donor_loss | 0.9900 |
| 1:171337425:GGTAT:G | donor_loss | 0.9900 |
| 1:171337427:T:A | donor_loss | 0.9900 |
| 1:171341407:TCTCA:T | acceptor_loss | 0.9900 |
AlphaMissense
3682 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:171319946:T:A | W41R | 0.993 |
| 1:171319946:T:C | W41R | 0.993 |
| 1:171324254:C:G | C146W | 0.992 |
| 1:171323063:G:C | K64N | 0.991 |
| 1:171323063:G:T | K64N | 0.991 |
| 1:171324189:T:A | W125R | 0.989 |
| 1:171324189:T:C | W125R | 0.989 |
| 1:171319948:G:C | W41C | 0.986 |
| 1:171319948:G:T | W41C | 0.986 |
| 1:171334740:G:C | R386P | 0.986 |
| 1:171331672:A:C | S173R | 0.983 |
| 1:171331674:T:A | S173R | 0.983 |
| 1:171331674:T:G | S173R | 0.983 |
| 1:171332718:A:C | S213R | 0.983 |
| 1:171332720:T:A | S213R | 0.983 |
| 1:171332720:T:G | S213R | 0.983 |
| 1:171334742:T:A | W387R | 0.983 |
| 1:171334742:T:C | W387R | 0.983 |
| 1:171319915:C:G | C30W | 0.982 |
| 1:171319862:A:C | S13R | 0.981 |
| 1:171319864:T:A | S13R | 0.981 |
| 1:171319864:T:G | S13R | 0.981 |
| 1:171323079:A:C | S70R | 0.981 |
| 1:171323081:T:A | S70R | 0.981 |
| 1:171323081:T:G | S70R | 0.981 |
| 1:171341577:G:C | R472P | 0.981 |
| 1:171323143:T:C | L91P | 0.979 |
| 1:171319947:G:C | W41S | 0.978 |
| 1:171331651:T:C | F166L | 0.977 |
| 1:171331653:T:A | F166L | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000319188 (1:171338499 C>T), RS1000427504 (1:171317792 T>A,C), RS1000600894 (1:171327271 A>G), RS1000653502 (1:171326902 A>T), RS1000733598 (1:171329860 C>A,T), RS1000811787 (1:171332447 G>A), RS1000844981 (1:171314842 C>A), RS1000904062 (1:171315442 T>TG), RS1001482246 (1:171317130 C>G), RS1001534684 (1:171317319 A>C), RS1001549024 (1:171326342 A>T), RS1001605807 (1:171320128 A>G), RS1001797717 (1:171323192 G>A,T), RS1001942871 (1:171321527 C>G), RS1002123412 (1:171336039 G>C)
Disease associations
OMIM: gene MIM:136131 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): trimethylaminuria (MONDO:0011182)
Orphanet (1): NON RARE IN EUROPE: Trimethylaminuria (Orphanet:35056)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0003614 | Trimethylaminuria |
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003075_1 | Cognitive decline rate in late mild cognitive impairment | 1.000000e-06 |
| GCST003075_100 | Cognitive decline rate in late mild cognitive impairment | 9.000000e-07 |
| GCST003075_101 | Cognitive decline rate in late mild cognitive impairment | 2.000000e-10 |
| GCST003075_9 | Cognitive decline rate in late mild cognitive impairment | 2.000000e-10 |
| GCST004125_11 | Type 2 diabetes (age of onset) | 4.000000e-06 |
| GCST006586_46 | Urinary albumin excretion | 1.000000e-08 |
| GCST007354_22 | Intracranial aneurysm | 2.000000e-10 |
| GCST009733_124 | Urinary metabolite levels in chronic kidney disease | 2.000000e-15 |
| GCST009733_176 | Urinary metabolite levels in chronic kidney disease | 2.000000e-16 |
| GCST009733_209 | Urinary metabolite levels in chronic kidney disease | 1.000000e-17 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007710 | cognitive decline measurement |
| EFO:0004285 | albuminuria |
| EFO:0005116 | urinary metabolite measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3542432 (PROTEIN FAMILY)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
4 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2020870 | FMO2 | 0.00 | 0 | ||
| rs2076322 | FMO4 | 0.00 | 0 | ||
| rs7512785 | FMO2 | 0.00 | 0 | ||
| rs7515157 | FMO2 | 0.00 | 0 |
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Nickel | decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Aflatoxin B1 | decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| lasiocarpine | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | increases expression, affects cotreatment | 1 |
| chlortoluron | decreases expression | 1 |
| senecionine | decreases expression | 1 |
| senkirkine | decreases expression | 1 |
| heliotrine | decreases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| entinostat | increases expression | 1 |
| NCX 4040 | increases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Cisplatin | decreases expression | 1 |
| Cytarabine | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ozone | affects expression, increases abundance | 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)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01793168 | Not specified | RECRUITING | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): brain aneurysm, trimethylaminuria