Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2328
Gene name	Flavin containing dimethylaniline monoxygenase 3
Gene symbol	FMO3
Synonyms (NCBI Gene)	FMOIITMAUdJ127D3.1
Chromosome	1
Chromosome location	1q24.3
Summary	Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pes

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2266780	A>G	Benign, likely-pathogenic, benign-likely-benign, pathogenic	Coding sequence variant, missense variant
rs2266782	G>A	Benign, likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs3832024	TG>-	Pathogenic	Coding sequence variant, frameshift variant, stop gained, inframe indel
rs61753344	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs72549320	G>A	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs72549322	A>G	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, intron variant
rs72549323	G>C,T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, intron variant
rs72549325	G>A,T	Pathogenic, likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant, missense variant
rs72549326	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs72549330	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs72549331	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs72549334	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs572292275	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs769983049	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs886038576	G>A,T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1057520649	G>T	Pathogenic	Stop gained, coding sequence variant
rs1384237868	C>T	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant

Show/Hide all (10)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030320	hsa-miR-26b-5p	Microarray	19088304
MIRT2230255	hsa-miR-1278	CLIP-seq
MIRT2230256	hsa-miR-139-5p	CLIP-seq
MIRT2230257	hsa-miR-217	CLIP-seq
MIRT2230258	hsa-miR-3618	CLIP-seq
MIRT2230259	hsa-miR-4418	CLIP-seq
MIRT2230260	hsa-miR-4797-5p	CLIP-seq
MIRT2230261	hsa-miR-509-3-5p	CLIP-seq
MIRT2230262	hsa-miR-509-5p	CLIP-seq
MIRT2230263	hsa-miR-934	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
PBX2	Unknown	17786630
USF1	Unknown	17786630
YY1	Unknown	17786630

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004499	Function	N,N-dimethylaniline monooxygenase activity	IBA
GO:0004499	Function	N,N-dimethylaniline monooxygenase activity	IEA
GO:0005515	Function	Protein binding	IPI	25910212, 31515488, 32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016709	Function	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	IEA
GO:0034899	Function	Trimethylamine monooxygenase activity	IEA
GO:0042412	Process	Taurine biosynthetic process	IBA
GO:0042412	Process	Taurine biosynthetic process	IDA	32156684
GO:0043231	Component	Intracellular membrane-bounded organelle	TAS	9207220
GO:0047638	Function	Albendazole monooxygenase activity	IEA
GO:0047822	Function	Hypotaurine monooxygenase activity	IDA	32156684
GO:0047822	Function	Hypotaurine monooxygenase activity	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0050661	Function	NADP binding	IEA

MIM	HGNC	e!Ensembl
136132	3771	ENSG00000007933

P31513

Protein name

Flavin-containing monooxygenase 3 (EC 1.14.13.148) (EC 1.14.13.32) (EC 1.14.13.8) (Dimethylaniline monooxygenase [N-oxide-forming] 3) (Dimethylaniline oxidase 3) (FMO II) (FMO form 2) (Hepatic flavin-containing monooxygenase 3) (FMO 3) (Trimethylamine mon

Protein function

Essential hepatic enzyme that catalyzes the oxygenation of a wide variety of nitrogen- and sulfur-containing compounds including drugs as well as dietary compounds (PubMed:10759686, PubMed:30381441, PubMed:32156684). Plays an important role in t

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00743	FMO-like	2 → 532	Flavin-binding monooxygenase-like	Family

Tissue specificity

TISSUE SPECIFICITY: Liver.

Sequence

MGKKVAIIGAGVSGLASIRSCLEEGLEPTCFEKSNDIGGLWKFSDHAEEGRASIYKSVFS
NSSKEMMCFPDFPFPDDFPNFMHNSKIQEYIIAFAKEKNLLKYIQFKTFVSSVNKHPDFA
TTGQWDVTTERDGKKESAVFDAVMVCSGHHVYPNLPKESFPGLNHFKGKCFHSRDYKEPG
VFNGKRVLVVGLGNSGCDIATELSRTAEQVMISSRSGSWVMSRVWDNGYPWDMLLVTRFG
TFLKNNLPTAISDWLYVKQMNARFKHENYGLMPLNGVLRKEPVFNDELPASILCGIVSVK
PNVKEFTETSAIFEDGTIFEGIDCVIFATGYSFAYPFLDESIIKSRNNEIILFKGVFPPL
LEKSTIAVIGFVQSLGAAIPTVDLQSRWAAQVIKGTCTLPSMEDMMNDINEKMEKKRKWF
GKSETIQTDYIVYMDELSSFIGAKPNIPWLFLTDPKLAMEVYFGPCSPYQFRLVGPGQWP
GARNAILTQWDRSLKPMQTRVVGRLQKPCFFFHWLKLFAIPILLIAVFLVLT

Sequence length

532

Interactions

View interactions

	KEGG		Reactome
	Taurine and hypotaurine metabolism Drug metabolism - cytochrome P450 Metabolic pathways		FMO oxidises nucleophiles Defective FMO3 causes Trimethylaminuria (TMAU)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
FMO3 activity, decreased	Pathogenic	rs72549325	RCV000017703	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FMO3-related disorder	Pathogenic	rs989553837	RCV004756517	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trimethylaminuria	Likely pathogenic; Pathogenic	rs775064534, rs751356173, rs762600525, rs559643079, rs3832024, rs775749562, rs1656200306, rs767079173, rs893223321, rs61757397, rs765373503, rs1185446006, rs1270775688, rs777700920, rs1331483649 View all (16 more)	RCV005003727 RCV005013010 RCV001775501 RCV001783302 RCV000490504 View all (26 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (53)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenoma	Adenoma	BEFREE	16214918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	15623613, 16214918, 17559352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	CTD_human_DG	17559352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agranulocytosis	Agranulocytosis	BEFREE	30814476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	21082301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	23312283, 25378658, 25849138, 29953618, 31070450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	23312283, 25378658, 25849138, 29953618, 31070450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29959872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30136421, 35915607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16915569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	16324215, 31317802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	31251986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	31251986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27513517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16800822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	25849138, 29851956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25849138, 29851956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28724646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30347638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	16324215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	32555714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Intestinal Polyposis	Multiple polyposis syndrome	CTD_human_DG	17559352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	17559352, 28255999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	LHGDN	17559352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	25849138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	16324215	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16324215		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	16324215		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Polyposis	Intestinal polyposis	Pubtator	16214918	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	23510775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	30814476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16915569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	17531949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	17531949	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	37148485	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	30814476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Trimethylaminuria	Trimethylaminuria	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28636934, 29795455		★★★★★ ★☆☆☆☆ Found in Text Mining only
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY	Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	BEFREE	27320963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	24390223	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyposis, Adenomatous Intestinal	Multiple polyposis syndrome	CTD_human_DG	17559352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe primary trimethylaminuria	Trimethylaminuria	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trimethylaminuria	Trimethylaminuria	BEFREE	10215790, 10479479, 10485731, 11191884, 11266081, 12678693, 12893987, 12938085, 16601883, 16858129, 16996766, 17257434, 17329912, 17531949, 19577495 View all (13 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Trimethylaminuria	Trimethylaminuria	UNIPROT_DG	10338091, 10479479, 11191884, 12893987, 17531949, 9536088		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Trimethylaminuria	Trimethylaminuria	CLINVAR_DG	10338091, 11191884, 16601883, 16996766, 17531949, 17584019, 19321370, 21451776, 23791655, 28649550, 28743400, 9282831, 9398858, 9536088		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Trimethylaminuria	Trimethylaminuria	CTD_human_DG	12214664, 16601883		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Trimethylaminuria	Trimethylaminuria	Pubtator	16324215, 16858129, 17257434, 17329912, 17531949, 24028545, 25288227, 28196478, 29116146, 29745129, 31533761, 34834137	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Trimethylaminuria	Trimethylaminuria	GENOMICS_ENGLAND_DG	28392825		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Trimethylaminuria	Trimethylaminuria	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

FMO3 (flavin containing dimethylaniline monoxygenase 3)