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

Gene ID: 2327, updated on 3-Apr-2024

Summary

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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
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Genomic context

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Location:
1q24.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (171185208..171212686)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (170541589..170568989)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (171154347..171181825)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:171076844-171078043 Neighboring gene microRNA 1295a Neighboring gene microRNA 1295b Neighboring gene flavin containing dimethylaniline monoxygenase 3 Neighboring gene uncharacterized LOC105371611 Neighboring gene flavin containing dimethylaniline monoxygenase 6, pseudogene Neighboring gene uncharacterized LOC124900413 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:171188772-171189333 Neighboring gene flavin containing dimethylaniline monoxygenase 1 Neighboring gene high mobility group box 1 pseudogene 11 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:171267702-171268494 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:171268495-171269285 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:171274060-171274560 Neighboring gene flavin containing dimethylaniline monoxygenase 4 Neighboring gene DNA topoisomerase I pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. 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. Mekonnen E, et al. PLoS One, 2017. PMID 28981537, Free PMC Article
  2. Mammalian flavin-containing monooxygenase (FMO) as a source of hydrogen peroxide. Siddens LK, et al. Biochem Pharmacol, 2014 May 1. PMID 24561181, Free PMC Article
  3. [Association of rs10912745 and rs4916375 polymorphisms located in the cluster of flavin-containing monooxygenase genes, with ischaemic cardioembolic stroke]. Tupitsyna TV, et al. Genetika, 2012 May. PMID 22830265
  4. Characterization of sulfoxygenation and structural implications of human flavin-containing monooxygenase isoform 2 (FMO2.1) variants S195L and N413K. Krueger SK, et al. Drug Metab Dispos, 2009 Aug. PMID 19420133, Free PMC Article
  5. Human flavin-containing monooxygenase 2.1 catalyzes oxygenation of the antitubercular drugs thiacetazone and ethionamide. Francois AA, et al. Drug Metab Dispos, 2009 Jan. PMID 18948378, Free PMC Article

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ40826

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 dehydrogenase 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
NP_001352829.1
NP_001451.2

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)

  1. 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

  2. NM_001365900.1 → 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)

  3. NM_001426376.1 → NP_001413305.1  flavin-containing monooxygenase 2 isoform d

    Status: REVIEWED

    Source sequence(s)
    CP068277

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

    Status: REVIEWED

    Source sequence(s)
    CP068277

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

    Status: REVIEWED

    Source sequence(s)
    CP068277
    UniProtKB/TrEMBL
    B4E2Q9

  6. 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

RNA

  1. NR_160266.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL021026, KF459607

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    171185208..171212686
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_007057966.1 RNA Sequence

  2. XR_921761.4 RNA Sequence

  3. XR_001737072.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    170541589..170568989
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99518.5 GenPept UniProtKB/Swiss-Prot:Q99518

Gene LinkOut

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