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

    Gene ID: 2327, updated on 6-Jun-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
    mouse all
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    Genomic context

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    See FMO2 in Genome Data Viewer
    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
      UniProtKB/TrEMBL
      Q5JPC7

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

      Status: REVIEWED

      Source sequence(s)
      CP068277
      UniProtKB/TrEMBL
      Q5JPC7

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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