FMO3 (flavin containing dimethylaniline monoxygenase 3)

Gene

• Entrez ID: 2328
• Gene name: Flavin containing dimethylaniline monoxygenase 3
• Gene symbol: FMO3
• Synonyms: FMOII, TMAU, dJ127D3.1
• 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

SNPs

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

miRNA

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

Transcription factors

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IBA	21873635
GO:0004499	Function	N,N-dimethylaniline monooxygenase activity	IEA
GO:0005515	Function	Protein binding	IPI	25910212, 31515488, 32296183
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0016021	Component	Integral component of membrane	IEA
GO:0034899	Function	Trimethylamine monooxygenase activity	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	TAS	9207220
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0050661	Function	NADP binding	IEA

Other IDs

• MIM: 136132
• HGNC: 3771
• e!Ensembl: ENSG00000007933

Protein

• UniProt ID: 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

• Sequence:

  MGKKVAIIGAGVSGLASIRSCLEEGLEPTCFEKSNDIGGLWKFSDHAEEGRASIYKSVFS
  NSSKEMMCFPDFPFPDDFPNFMHNSKIQEYIIAFAKEKNLLKYIQFKTFVSSVNKHPDFA
  TTGQWDVTTERDGKKESAVFDAVMVCSGHHVYPNLPKESFPGLNHFKGKCFHSRDYKEPG
  VFNGKRVLVVGLGNSGCDIATELSRTAEQVMISSRSGSWVMSRVWDNGYPWDMLLVTRFG
  TFLKNNLPTAISDWLYVKQMNARFKHENYGLMPLNGVLRKEPVFNDELPASILCGIVSVK
  PNVKEFTETSAIFEDGTIFEGIDCVIFATGYSFAYPFLDESIIKSRNNEIILFKGVFPPL
  LEKSTIAVIGFVQSLGAAIPTVDLQSRWAAQVIKGTCTLPSMEDMMNDINEKMEKKRKWF
  GKSETIQTDYIVYMDELSSFIGAKPNIPWLFLTDPKLAMEVYFGPCSPYQFRLVGPGQWP
  GARNAILTQWDRSLKPMQTRVVGRLQKPCFFFHWLKLFAIPILLIAVFLVLT

• Sequence length: 532

Pathways

KEGG:

Taurine and hypotaurine metabolism
Drug metabolism - cytochrome P450
Metabolic pathways

Reactome:

FMO oxidises nucleophiles
Defective FMO3 causes Trimethylaminuria (TMAU)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Multiple polyposis syndrome	Adenomatous Polyposis Coli, Polyposis, Adenomatous Intestinal, Familial Intestinal Polyposis	rs137854568, rs137854569, rs387906231, rs137854574, rs137854575, rs387906234, rs587776520, rs1801155, rs387906236, rs137854580, rs387906239, rs397515732, rs397515733, rs397515734, rs397515735, rs587779352, rs587779353, rs398123118, rs587779780, rs587779783, rs587779794, rs62619935, rs587781330, rs587781392, rs587781694, rs587782557, rs587783035, rs727504420, rs376213437, rs730882135, rs786201291, rs786201856, rs775126020, rs768922431, rs121913332, rs863225362, rs863225365, rs863225371, rs863225319, rs863225347, rs756912930, rs876659517, rs754122018, rs876659280, rs121913331, rs758987855, rs863224281, rs879254032, rs879254283, rs886039507, rs1060503323, rs1060503366, rs1064793020, rs1064793535, rs1114167545, rs1114167551, rs1114167571, rs1554071602, rs1554072560, rs1554074738, rs1554079988, rs1554081906, rs1554084508, rs1554085102, rs1554085307, rs1554085382, rs1554085817, rs1060503288, rs1392778905, rs1554086084, rs1554086134, rs1554086138, rs1554087515, rs774847203, rs1554084454, rs1114167599, rs1554086340, rs1554084403, rs1554085084, rs777848503, rs1554086262, rs1554083981, rs1554084650, rs1064794163, rs1554086923, rs1554086823, rs1554085303, rs1554084159, rs1554081749, rs1554084512, rs1561576666, rs1561545947, rs1561588017, rs1561589459, rs1561598017, rs1561569606, rs1580685528, rs1580634573, rs1580649018, rs1561597691, rs79630786	17559352
Hypertension	Hypertensive disease	rs13306026, rs13333226
Neutropenia	Neutropenia	rs879253882
Trimethylaminuria	Trimethylaminuria, Severe primary trimethylaminuria, NON RARE IN EUROPE: Trimethylaminuria	rs61753344, rs72549323, rs72549334, rs72549330, rs72549322, rs72549332, rs72549320, rs3832024, rs1057520649, rs72549331, rs1384237868, rs72549325	10338091, 9282831, 9536088, 17584019, 11191884, 23791655, 28392825, 12893987, 17531949, 28649550, 9398858, 16601883, 21451776, 16996766, 19321370, 10479479, 12214664, 28743400

Unknown
Disease name	Disease term	dbSNP ID	References
Mental depression	Depressive disorder	rs587778876, rs587778877