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    DUOXA2 dual oxidase maturation factor 2 [ Homo sapiens (human) ]

    Gene ID: 405753, updated on 17-Jun-2024

    Summary

    Official Symbol
    DUOXA2provided by HGNC
    Official Full Name
    dual oxidase maturation factor 2provided by HGNC
    Primary source
    HGNC:HGNC:32698
    See related
    Ensembl:ENSG00000140274 MIM:612772; AllianceGenome:HGNC:32698
    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
    TDH5; SIMNIPHOM
    Summary
    This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010]
    Expression
    Biased expression in gall bladder (RPKM 85.0), urinary bladder (RPKM 21.8) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DUOXA2 in Genome Data Viewer
    Location:
    15q21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (45114326..45118421)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (42922347..42926442)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45406524..45410619)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene sorbitol dehydrogenase Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45394173-45394673 Neighboring gene dual oxidase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:45402938-45403764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45404607-45405142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9349 Neighboring gene dual oxidase maturation factor 1 Neighboring gene uncharacterized LOC124903480 Neighboring gene dual oxidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45459911-45460412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45461170-45461772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45461773-45462375 Neighboring gene uncharacterized LOC124903481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45471346-45471852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:45475299-45475847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:45478592-45479144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6401 Neighboring gene Src homology 2 domain containing F

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell leading edge IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    dual oxidase maturation factor 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016992.1 RefSeqGene

      Range
      5002..9097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_207581.4NP_997464.2  dual oxidase maturation factor 2

      See identical proteins and their annotated locations for NP_997464.2

      Status: REVIEWED

      Source sequence(s)
      AC091117, BC137465, BM987789, DC393748
      Consensus CDS
      CCDS10118.2
      UniProtKB/Swiss-Prot
      B2RPI9, H0YNQ6, Q1HG44
      Related
      ENSP00000319705.5, ENST00000323030.6
      Conserved Domains (1) summary
      pfam10204
      Location:11282
      DuoxA; Dual oxidase maturation factor

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      45114326..45118421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022180.2XP_016877669.1  dual oxidase maturation factor 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      42922347..42926442
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377904.1XP_054233879.1  dual oxidase maturation factor 2 isoform X1