FMO4: Flavin Containing Dimethylaniline Monoxygenase 4
A comprehensive biomedical resource for FMO4 gene, including genomic annotation, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | FMO4 |
|---|---|
| Full Name | Flavin Containing Dimethylaniline Monoxygenase 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q24.3 |
| NCBI Gene ID | 2329 ncbi.nlm.nih.gov/gene/2329 |
| Ensembl ID | ENSG00000134250 |
| UniProt ID | P31512 |
| OMIM ID | 136131 |
| HGNC ID | 3777 |
| Aliases | FMO2, FMO4A, FMO4B |
Description
FMO4 (Flavin Containing Dimethylaniline Monoxygenase 4) encodes a member of the flavin-containing monooxygenase (FMO) family. These enzymes are involved in the oxidative metabolism of various xenobiotics, including drugs and environmental toxins, by catalyzing the NADPH-dependent oxygenation of nucleophilic nitrogen, sulfur, and phosphorus atoms. FMO4 is expressed in multiple tissues and contributes to interindividual variability in drug response and toxicity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Trimethylaminuria (fish odor syndrome) | Reduced FMO4 activity may contribute to impaired trimethylamine N-oxidation, leading to accumulation of malodorous trimethylamine. | Limited evidence; primarily associated with FMO3 mutations. |
| Drug-induced liver injury | Altered FMO4 expression or activity may affect metabolism of hepatotoxic drugs. | Inferred from functional studies; not directly established. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 6.1 | Low |
| Small intestine | 5.4 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 4.5 | Embryonic kidney cell line |
| A549 | 3.8 | Lung carcinoma cell line |
| Caco-2 | 2.9 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.01% | Likely loss of function; initiation codon disrupted |
| c.472C>T (p.Arg158Cys) | Missense | <0.01% | Reduced catalytic activity in vitro |
| c.1057G>A (p.Gly353Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations disrupting the initiation codon or critical catalytic residues are predicted to reduce or abolish enzyme activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FMO4.
Dominant Negative (DN)
No dominant-negative mutations have been described for FMO4.
View complete mutation data：
Gene Ontology (GO)
| • monooxygenase activity (GO:0004497) | • NADP binding (GO:0050661) |
| • endoplasmic reticulum (GO:0005783) | • xenobiotic metabolic process (GO:0006805) |
| • epoxygenase P450 pathway (GO:0019373) |
Pathways
• Xenobiotic metabolism (Reactome: R-HSA-211981)
• Drug metabolism - other enzymes (KEGG: hsa00983)
Protein Summary
FMO4 is a 558-amino acid microsomal flavoprotein that uses FAD and NADPH to oxygenate soft nucleophiles. It is predominantly expressed in the liver and kidney, playing a role in the detoxification of drugs and environmental chemicals. The enzyme exhibits broad substrate specificity and contributes to interindividual pharmacokinetic variability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FMO4 Knockout HEK293 Cell Line | EDJ-KQ4617 | Human | 2329 | Details Get a Quote |
| FMO4 Knockout HCT 116 Cell Line | EDJ-KQ27288 | Human | 2329 | Details Get a Quote |
| FMO4 Knockout HeLa Cell Line | EDJ-KQ53256 | Human | 2329 | Details Get a Quote |
| FMO4 Knockout A-549 Cell Line | EDJ-KQ61738 | Human | 2329 | Details Get a Quote |
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