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    NQO2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 [ Homo sapiens (human) ]

    Gene ID: 4835, updated on 28-Oct-2024

    Summary

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    Official Symbol
    NQO2provided by HGNC
    Official Full Name
    N-ribosyldihydronicotinamide:quinone dehydrogenase 2provided by HGNC
    Primary source
    HGNC:HGNC:7856
    See related
    Ensembl:ENSG00000124588 MIM:160998; AllianceGenome:HGNC:7856
    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
    QR2; DHQV; DIA6; NMOR2
    Summary
    This gene encodes a member of the thioredoxin family of enzymes. It is a cytosolic and ubiquitously expressed flavoprotein that catalyzes the two-electron reduction of quinone substrates and uses dihydronicotinamide riboside as a reducing coenzyme. Mutations in this gene have been associated with neurodegenerative diseases and several cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
    Expression
    Broad expression in kidney (RPKM 43.3), fat (RPKM 18.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NQO2 in Genome Data Viewer
    Location:
    6p25.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (2999894..3019755)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (2868796..2888657)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (3000128..3019989)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene serpin family B member 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2960063-2960678 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:2971582-2972106 Neighboring gene SERPINB6-LINC01011 intergenic CAGE-defined mid-level expression enhancer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:2988143-2988952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:2988953-2989762 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2989763-2990572 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2990573-2991380 Neighboring gene long intergenic non-protein coding RNA 1011 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:2994147-2994331 Neighboring gene NQO2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16839 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3014049-3014548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3017263-3017764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3017765-3018264 Neighboring gene HIV-1 Tat specific factor 1 pseudogene 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:3023471-3024670 Neighboring gene uncharacterized LOC101927759 Neighboring gene Sharpr-MPRA regulatory region 12329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23882 Neighboring gene family with sequence similarity 136 member B, pseudogene

    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 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. Morphological features, distribution and compartmental organization of the nicotinamide adenine dinucleotide phosphate reduced-diaphorase interneurons in the human striatum. Bernácer J, et al. J Comp Neurol, 2005 Aug 29. PMID 16025450
    2. Increased hippocampal quinone reductase 2 in Alzheimer's disease. Hashimoto T, et al. Neurosci Lett, 2011 Sep 8. PMID 21803122
    3. Polymorphisms and Pharmacogenomics of NQO2: The Past and the Future. Janda E, et al. Genes (Basel), 2024 Jan 10. PMID 38254976, Free PMC Article
    4. Functional polymorphisms, altered gene expression and genetic association link NRH:quinone oxidoreductase 2 to breast cancer with wild-type p53. Yu KD, et al. Hum Mol Genet, 2009 Jul 1. PMID 19351655
    5. The structure of the leukemia drug imatinib bound to human quinone reductase 2 (NQO2). Winger JA, et al. BMC Struct Biol, 2009 Feb 24. PMID 19236722, Free PMC Article

    See all (87) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Polymorphisms and Pharmacogenomics of NQO2: The Past and the Future.
      Title: Polymorphisms and Pharmacogenomics of NQO2: The Past and the Future.
    2. An Axis between the Long Non-Coding RNA HOXA11-AS and NQOs Enhances Metastatic Ability in Oral Squamous Cell Carcinoma.
      Title: An Axis between the Long Non-Coding RNA HOXA11-AS and NQOs Enhances Metastatic Ability in Oral Squamous Cell Carcinoma.
    3. Cancer-associated variants of human NQO1: impacts on inhibitor binding and cooperativity.
      Title: Cancer-associated variants of human NQO1: impacts on inhibitor binding and cooperativity.
    4. these data suggest that the overexpression of QR2 in brain cells in the presence of catechol quinones might lead to reactive oxygen species-induced cell death via the rapid conversion of superoxide radicals into hydrogen peroxide and then into highly reactive hydroxyl radicals
      Title: Oxidative stress and neurodegeneration: The possible contribution of quinone reductase 2.
    5. The ontogeny and population variability of human hepatic dihydronicotinamide riboside:quinone oxidoreductase (NQO2).
      Title: The ontogeny and population variability of human hepatic dihydronicotinamide riboside:quinone oxidoreductase (NQO2).
    6. In patients with Alzheimer's disease, QR2 is overexpressed in the insular cotex.
      Title: Expression of Quinone Reductase-2 in the Cortex Is a Muscarinic Acetylcholine Receptor-Dependent Memory Consolidation Constraint.
    7. NQO2-L47 is less stable towards proteolytic digestion and thermal denaturation than NQO2-F47.
      Title: The two common polymorphic forms of human NRH-quinone oxidoreductase 2 (NQO2) have different biochemical properties.
    8. NQO1 609C>T and NQO2 -3423G>A polymorphisms do not seem to play any significant role in susceptibility or prognosis of EC in north Indian population.
      Title: Null association of NQO1 609C>T and NQO2 -3423G>A polymorphisms with susceptibility and prognosis of Esophageal cancer in north Indian population and meta-analysis.
    9. This first structure of a reduced quinone reductase shows that reduction of the FAD cofactor and binding of a specific inhibitor lead to global changes in NQO2 structure and is consistent with a functional role for NQO2 as a flavin redox switch.
      Title: Chloroquine binding reveals flavin redox switch function of quinone reductase 2.
    10. Diplotypes of NQO1 (exon 4 and 6), C-T (OR = 1.56, Pc = 0.007) and T-T (OR = 0.011, Pc = 3.86) was associated with an increased risk for prostate cancer (PCa). NQO2 and MTHFR did not show any risk with PCa.
      Title: Genetic variants in metabolizing genes NQO1, NQO2, MTHFR and risk of prostate cancer: a study from North India.
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    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

    Associated conditions

    Description Tests
    Familial cancer of breast
    MedGen: C0346153 OMIM: 114480 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
    		not available

    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

    • FLJ39868

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables FAD binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables NAD(P)H dehydrogenase (quinone) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chloride ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables dihydronicotinamide riboside quinone reductase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables electron transfer activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables melatonin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables oxidoreductase activity, acting on other nitrogenous compounds as donors IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables resveratrol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in quinone catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    ribosyldihydronicotinamide dehydrogenase [quinone]
    Names
    N-ribosyldihydronicotinamide:quinone reductase 2
    NAD(P)H dehydrogenase, quinone 2
    NAD(P)H menadione oxidoreductase-1, dioxin-inducible-2
    NAD(P)H quinone dehydrogenase 2
    NRH:quinone oxidoreductase 2
    quinone reductase 2
    ribosyldihydronicotinamide dehydrogenase
    NP_000895.2
    NP_001277150.1
    NP_001277151.1
    NP_001305869.1

    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.

    Genomic

    1. NG_034013.1 RefSeqGene

      Range
      5079..24940
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000904.6 → NP_000895.2  ribosyldihydronicotinamide dehydrogenase [quinone] isoform 1

      See identical proteins and their annotated locations for NP_000895.2

      Status: REVIEWED

      Source sequence(s)
      AL133351
      Consensus CDS
      CCDS4481.1
      UniProtKB/Swiss-Prot
      B2R492, P16083, Q5TD04
      UniProtKB/TrEMBL
      B3KPX6
      Related
      ENSP00000369822.4, ENST00000380455.11
      Conserved Domains (1) summary
      pfam02525
      Location:5 → 212
      Flavodoxin_2; Flavodoxin-like fold

    2. NM_001290221.2 → NP_001277150.1  ribosyldihydronicotinamide dehydrogenase [quinone] isoform 1

      See identical proteins and their annotated locations for NP_001277150.1

      Status: REVIEWED

      Source sequence(s)
      AL133351
      Consensus CDS
      CCDS4481.1
      UniProtKB/Swiss-Prot
      B2R492, P16083, Q5TD04
      UniProtKB/TrEMBL
      B3KPX6
      Related
      ENSP00000337773.2, ENST00000338130.7
      Conserved Domains (1) summary
      pfam02525
      Location:5 → 212
      Flavodoxin_2; Flavodoxin-like fold

    3. NM_001290222.2 → NP_001277151.1  ribosyldihydronicotinamide dehydrogenase [quinone] isoform 2

      See identical proteins and their annotated locations for NP_001277151.1

      Status: REVIEWED

      Source sequence(s)
      AL133351
      Consensus CDS
      CCDS75388.1
      UniProtKB/TrEMBL
      B3KPX6, Q5TD07
      Related
      ENSP00000369821.4, ENST00000380454.8
      Conserved Domains (1) summary
      pfam02525
      Location:5 → 174
      Flavodoxin_2; Flavodoxin-like fold

    4. NM_001318940.2 → NP_001305869.1  ribosyldihydronicotinamide dehydrogenase [quinone] isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL133351
      Consensus CDS
      CCDS4481.1
      UniProtKB/Swiss-Prot
      B2R492, P16083, Q5TD04
      UniProtKB/TrEMBL
      B3KPX6
      Related
      ENSP00000369795.1, ENST00000380430.6
      Conserved Domains (1) summary
      pfam02525
      Location:5 → 212
      Flavodoxin_2; Flavodoxin-like fold

    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

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      2999894..3019755
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      2868796..2888657
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P16083.5 GenPept UniProtKB/Swiss-Prot:P16083

    Gene LinkOut

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

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