FMO2 flavin containing dimethylaniline monoxygenase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FMO2provided by HGNC
Official Full Name: flavin containing dimethylaniline monoxygenase 2provided by HGNC
Primary source: HGNC:HGNC:3770
See related: Ensembl:ENSG00000094963 MIM:603955; AllianceGenome:HGNC:3770
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FMO1B1
Summary: 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. [provided by RefSeq, Aug 2014]
Expression: Biased expression in fat (RPKM 59.7), lung (RPKM 58.7) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (171185208..171212686)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (170541681..170568989)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (171154439..171181825)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Discovery and identification of the prognostic significance and potential mechanism of FMO2 in breast cancer.
Title: Discovery and identification of the prognostic significance and potential mechanism of FMO2 in breast cancer.
Cancer-associated fibroblasts-derived FMO2 as a biomarker of macrophage infiltration and prognosis in epithelial ovarian cancer.
Title: Cancer-associated fibroblasts-derived FMO2 as a biomarker of macrophage infiltration and prognosis in epithelial ovarian cancer.
Flavin containing monooxygenase 2 regulates renal tubular cell fibrosis and paracrine secretion via SMURF2 in AKI-CKD transformation.
Title: Flavin containing monooxygenase 2 regulates renal tubular cell fibrosis and paracrine secretion via SMURF2 in AKI‑CKD transformation.
The functional FMO2(427Q) isoform was active against nicotine; the truncated FMO2(Q472stop) isoform exhibited no enzyme activity.
Title: Nicotine-N'-Oxidation by Flavin Monooxygenase Enzymes.
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
Title: An ancestral human genetic variant linked to an ancient disease: A novel association of FMO2 polymorphisms with tuberculosis (TB) in Ethiopian populations provides new insight into the differential ethno-geographic distribution of FMO2*1.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evaluation of candidate genes for cholinesterase activity in farmworkers exposed to organophosphorus pesticides: association of single nucleotide polymorphisms in BCHE.
Characterization of sulfoxygenation and structural implications of human flavin-containing monooxygenase isoform 2 (FMO2.1) variants S195L and N413K.
Title: Characterization of sulfoxygenation and structural implications of human flavin-containing monooxygenase isoform 2 (FMO2.1) variants S195L and N413K.
analysis of how the functional variant flavin-containing monooxygenase 2*1 is at high frequency throughout sub-Saharan Africa
Title: The potentially deleterious functional variant flavin-containing monooxygenase 2*1 is at high frequency throughout sub-Saharan Africa.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Genetic variation in metabolizing enzyme and transporter genes: comprehensive assessment in 3 major East Asian subpopulations with comparison to Caucasians and Africans.
analysis of flavin-containing monooxygenase isoform 2 (FMO2) polymorphisms in Hispanics
Title: Haplotype and functional analysis of four flavin-containing monooxygenase isoform 2 (FMO2) polymorphisms in Hispanics.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-02-02) ClinGen Genome Curation Page Haploinsufficency Dosage sensitivity unlikely (Last evaluated 2021-02-02) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G42296 (e-PCR)
- UniSTS:93969

G67463 (e-PCR)
- UniSTS:186703

G67464 (e-PCR)
- UniSTS:186704

G67465 (e-PCR)
- UniSTS:186705

G67459 (e-PCR)
- UniSTS:186706

G67460 (e-PCR)
- UniSTS:186707

G67461 (e-PCR)
- UniSTS:186708

G67462 (e-PCR)
- UniSTS:186709

SHGC-75894 (e-PCR)
- UniSTS:30858

STS-Y09267 (e-PCR)
- UniSTS:62636

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N,N-dimethylaniline monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables N,N-dimethylaniline monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables NADP binding	IEA Inferred from Electronic Annotation more info
enables flavin adenine dinucleotide binding	IEA Inferred from Electronic Annotation more info
enables hypotaurine monooxygenase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in NADP metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in NADPH oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in energy homeostasis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of fatty acid oxidation	IEA Inferred from Electronic Annotation more info
involved_in organic acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in oxygen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in toxin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: flavin-containing monooxygenase 2

Names: FMO, pulmonary; dimethylaniline monooxygenase [N-oxide-forming] 2; dimethylaniline oxidase 2; flavin containing monooxygenase 2 (non-functional); pulmonary flavin-containing monooxygenase 2

NP_001288276.1

EC 1.14.13.8

NP_001352829.1

EC 1.14.13.8

NP_001413305.1

EC 1.14.13.8

NP_001413307.1

EC 1.14.13.8

NP_001413308.1

EC 1.14.13.8

NP_001451.2

EC 1.14.13.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001301347.2 → NP_001288276.1 flavin-containing monooxygenase 2 isoform b

See identical proteins and their annotated locations for NP_001288276.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate exons, and it thus differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.

Source sequence(s)

AI821378, AK098145, AK304385, AL021026, AL833218, KF459607, R95468

UniProtKB/TrEMBL

B4E2Q9, Q5JPC7

Conserved Domains (1) summary

pfam00743
Location:1 → 312

FMO-like; Flavin-binding monooxygenase-like
NM_001365900.2 → NP_001352829.1 flavin-containing monooxygenase 2 isoform c

Status: REVIEWED

Source sequence(s)

AL021026, KF459607

UniProtKB/TrEMBL

Q5JPC7

Conserved Domains (1) summary

cl26174
Location:1 → 467

K_oxygenase; L-lysine 6-monooxygenase (NADPH-requiring)
NM_001426376.1 → NP_001413305.1 flavin-containing monooxygenase 2 isoform d

Status: REVIEWED

Source sequence(s)

CP068277
NM_001426378.1 → NP_001413307.1 flavin-containing monooxygenase 2 isoform e

Status: REVIEWED

Source sequence(s)

CP068277
NM_001426379.1 → NP_001413308.1 flavin-containing monooxygenase 2 isoform f

Status: REVIEWED

Source sequence(s)

CP068277

UniProtKB/TrEMBL

B4E2Q9
NM_001460.5 → NP_001451.2 flavin-containing monooxygenase 2 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1), which represents the functional FMO2*1 allele, is the longer transcript and encodes the longer isoform (a)

Source sequence(s)

AI821378, AK098145, AL021026, AL833218, BC005894, DB224311, KF459607, R95468

Consensus CDS

CCDS1293.2

UniProtKB/Swiss-Prot

Q5EBX4, Q86U73, Q99518, Q9BRX1

UniProtKB/TrEMBL

Q5JPC7

Related

ENSP00000209929.8, ENST00000209929.10

Conserved Domains (1) summary

pfam00743
Location:2 → 532

FMO-like; Flavin-binding monooxygenase-like

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

171185208..171212686

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

170541681..170568989

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NR_160266.1: Suppressed sequence

Description

NR_160266.1: This RefSeq was removed because it is not a nonsense-mediated mRNA decay (NMD) candidate but rather represents indel variation and is a protein coding transcript.