LOCUS       NM_207581               1755 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens dual oxidase maturation factor 2 (DUOXA2), mRNA.
ACCESSION   NM_207581
VERSION     NM_207581.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1755)
  AUTHORS   Wang,F., Zang,Y., Li,M., Liu,W., Wang,Y., Yu,X., Li,H., Wang,F. and
            Liu,S.
  TITLE     DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid
            Dysgenesis and Gland-in-situ With Congenital Hypothyroidism
  JOURNAL   Front Endocrinol (Lausanne) 11, 237 (2020)
   PUBMED   32425884
  REMARK    GeneRIF: DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid
            Dysgenesis and Gland-in-situ With Congenital Hypothyroidism.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1755)
  AUTHORS   Poncelet,L., Dumont,J.E., Miot,F. and De Deken,X.
  TITLE     The Dual Oxidase Duox2 stabilized with DuoxA2 in an enzymatic
            complex at the surface of the cell produces extracellular H2O2 able
            to induce DNA damage in an inducible cellular model
  JOURNAL   Exp Cell Res 384 (1), 111620 (2019)
   PUBMED   31513783
  REMARK    GeneRIF: H2O2 produced by the Duox2/DuoxA2 cell surface enzymatic
            complex could provoke potential mutagenic DNA damage.
REFERENCE   3  (bases 1 to 1755)
  AUTHORS   Peters,C., Nicholas,A.K., Schoenmakers,E., Lyons,G., Langham,S.,
            Serra,E.G., Sebire,N.J., Muzza,M., Fugazzola,L. and Schoenmakers,N.
  TITLE     DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism
            that Evades Detection on Newborn Screening in the United Kingdom
  JOURNAL   Thyroid 29 (6), 790-801 (2019)
   PUBMED   31044655
  REMARK    GeneRIF: DUOX2/DUOXA2 Mutations Frequently Cause Congenital
            Hypothyroidism that Evades Detection on Newborn Screening in the
            United Kingdom.
REFERENCE   4  (bases 1 to 1755)
  AUTHORS   Zheng,X., Ma,S.G., Guo,M.L., Qiu,Y.L. and Yang,L.X.
  TITLE     Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause
            Congenital Hypothyroidism
  JOURNAL   Yonsei Med J 58 (4), 888-890 (2017)
   PUBMED   28541007
  REMARK    GeneRIF: This study reports the pedigree with goitrous congenital
            hypothyroidism (GCH) due to the coexistence of heterozygous
            mutations in the DUOX2 and DUOXA2 genes.
REFERENCE   5  (bases 1 to 1755)
  AUTHORS   Wu,Y., Antony,S., Juhasz,A., Lu,J., Ge,Y., Jiang,G., Roy,K. and
            Doroshow,J.H.
  TITLE     Up-regulation and sustained activation of Stat1 are essential for
            interferon-gamma (IFN-gamma)-induced dual oxidase 2 (Duox2) and
            dual oxidase A2 (DuoxA2) expression in human pancreatic cancer cell
            lines
  JOURNAL   J Biol Chem 286 (14), 12245-12256 (2011)
   PUBMED   21321110
  REMARK    GeneRIF: Up-regulation and sustained activation of Stat1 are
            essential for interferon-gamma (IFN-gamma)-induced dual oxidase 2
            (Duox2) and dual oxidase A2 (DuoxA2) expression in human pancreatic
            cancer cell lines.
REFERENCE   6  (bases 1 to 1755)
  AUTHORS   Luxen,S., Noack,D., Frausto,M., Davanture,S., Torbett,B.E. and
            Knaus,U.G.
  TITLE     Heterodimerization controls localization of Duox-DuoxA NADPH
            oxidases in airway cells
  JOURNAL   J Cell Sci 122 (Pt 8), 1238-1247 (2009)
   PUBMED   19339556
  REMARK    GeneRIF: Heterodimerization controls localization of Duox-DuoxA
            NADPH oxidases in airway cells.
REFERENCE   7  (bases 1 to 1755)
  AUTHORS   Eriksson,A., Flach,C.F., Lindgren,A., Kvifors,E. and Lange,S.
  TITLE     Five mucosal transcripts of interest in ulcerative colitis
            identified by quantitative real-time PCR: a prospective study
  JOURNAL   BMC Gastroenterol 8, 34 (2008)
   PUBMED   18700007
  REMARK    GeneRIF: The five gene transcripts (aldolase B, elafin, MST-1,
            simNIPhom and SLC6A14) were changed in patients with ulcerative
            colitis, and were related to the disease activity.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1755)
  AUTHORS   Zamproni,I., Grasberger,H., Cortinovis,F., Vigone,M.C.,
            Chiumello,G., Mora,S., Onigata,K., Fugazzola,L., Refetoff,S.,
            Persani,L. and Weber,G.
  TITLE     Biallelic inactivation of the dual oxidase maturation factor 2
            (DUOXA2) gene as a novel cause of congenital hypothyroidism
  JOURNAL   J Clin Endocrinol Metab 93 (2), 605-610 (2008)
   PUBMED   18042646
  REMARK    GeneRIF: Results provide evidence for the critical role of DUOXA2
            in thyroid hormonogenesis. Biallelic DUOXA2 mutations are a novel
            genetic event in permanent congenital hypothroidism.
REFERENCE   9  (bases 1 to 1755)
  AUTHORS   Grasberger,H., De Deken,X., Miot,F., Pohlenz,J. and Refetoff,S.
  TITLE     Missense mutations of dual oxidase 2 (DUOX2) implicated in
            congenital hypothyroidism have impaired trafficking in cells
            reconstituted with DUOX2 maturation factor
  JOURNAL   Mol Endocrinol 21 (6), 1408-1421 (2007)
   PUBMED   17374849
  REMARK    GeneRIF: DUOXA2 allows rapid ER exit of folded DUOX2 or enhanced
            degradation of mutant DUOX2 proteins not competent for ER exit.
REFERENCE   10 (bases 1 to 1755)
  AUTHORS   Grasberger,H. and Refetoff,S.
  TITLE     Identification of the maturation factor for dual oxidase. Evolution
            of an eukaryotic operon equivalent
  JOURNAL   J Biol Chem 281 (27), 18269-18272 (2006)
   PUBMED   16651268
  REMARK    GeneRIF: co-expression of DUOXA2, an ER-resident transmembrane
            protein, allows ER-to-Golgi transition, maturation, and
            translocation to the plasma membrane of functional DUOX2 in a
            heterologous system
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC393748.1, BC137465.1,
            BM987789.1 and AC091117.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_207581.3.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC137465.1, DQ489734.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000323030.6/ ENSP00000319705.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-78                DC393748.1         2-79
            79-1392             BC137465.1         1-1314
            1393-1440           BM987789.1         14-61               c
            1441-1755           AC091117.5         168775-169089
FEATURES             Location/Qualifiers
     source          1..1755
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     gene            1..1755
                     /gene="DUOXA2"
                     /gene_synonym="SIMNIPHOM; TDH5"
                     /note="dual oxidase maturation factor 2"
                     /db_xref="GeneID:405753"
                     /db_xref="HGNC:HGNC:32698"
                     /db_xref="MIM:612772"
     exon            1..427
                     /gene="DUOXA2"
                     /gene_synonym="SIMNIPHOM; TDH5"
                     /inference="alignment:Splign:2.1.0"
     CDS             281..1243
                     /gene="DUOXA2"
                     /gene_synonym="SIMNIPHOM; TDH5"
                     /codon_start=1
                     /product="dual oxidase maturation factor 2"
                     /protein_id="NP_997464.2"
                     /db_xref="CCDS:CCDS10118.2"
                     /db_xref="GeneID:405753"
                     /db_xref="HGNC:HGNC:32698"
                     /db_xref="MIM:612772"
                     /translation="MTLWNGVLPFYPQPRHAAGFSVPLLIVILVFLALAASFLLILPG
                     IRGHSRWFWLVRVLLSLFIGAEIVAVHFSAEWFVGTVNTNTSYKAFSAARVTARVRLL
                     VGLEGINITLTGTPVHQLNETIDYNEQFTWRLKENYAAEYANALEKGLPDPVLYLAEK
                     FTPSSPCGLYHQYHLAGHYASATLWVAFCFWLLSNVLLSTPAPLYGGLALLTTGAFAL
                     FGVFALASISSVPLCPLRLGSSALTTQYGAAFWVTLATGVLCLFLGGAVVSLQYVRPS
                     ALRTLLDQSAKDCSQERGGSPLILGDPLHKQAALPDLKCITTNL"
     exon            428..485
                     /gene="DUOXA2"
                     /gene_synonym="SIMNIPHOM; TDH5"
                     /inference="alignment:Splign:2.1.0"
     exon            486..620
                     /gene="DUOXA2"
                     /gene_synonym="SIMNIPHOM; TDH5"
                     /inference="alignment:Splign:2.1.0"
     exon            621..834
                     /gene="DUOXA2"
                     /gene_synonym="SIMNIPHOM; TDH5"
                     /inference="alignment:Splign:2.1.0"
     exon            835..1049
                     /gene="DUOXA2"
                     /gene_synonym="SIMNIPHOM; TDH5"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1755
                     /gene="DUOXA2"
                     /gene_synonym="SIMNIPHOM; TDH5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1409..1414
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DUOXA2"
                     /gene_synonym="SIMNIPHOM; TDH5"
                     /note="hexamer: AATAAA"
     polyA_site      1440
                     /gene="DUOXA2"
                     /gene_synonym="SIMNIPHOM; TDH5"
                     /note="major polyA site"
ORIGIN      
        1 agcgccaacc cgcagaacca ggaaagtaac ggctacagac agtgagaaat agtttcgctc
       61 gccggctaga aaaactctgt cggtaccaac cccagagcgt tgagagcagc ccacctccac
      121 gcttccttaa cggagaggtg caggactcag acttcaccag cccactcggt cccagccttg
      181 tacgcaaaga gacgccaagg acgcgctctc ccgcgtccag gcagccccag cttgctggct
      241 tgcctgcccg cctgcgtgca gcactcggcc ggcgtgcagc atgaccctgt ggaacggcgt
      301 actgcctttt tacccccagc cccggcatgc cgcaggcttc agcgttccac tgctcatcgt
      361 tattctagtg tttttggctc tagcagcaag cttcctgctc atcttgccgg ggatccgtgg
      421 ccactcgcgc tggttttggt tggtgagagt tcttctcagt ctgttcatag gcgcagaaat
      481 tgtggctgtg cacttcagtg cagaatggtt cgtgggtaca gtgaacacca acacatccta
      541 caaagccttc agcgcagcgc gcgttacagc ccgtgtccgt ctgctcgtgg gcctggaggg
      601 cattaatatt acactcacag ggaccccagt gcatcagctg aacgagacca ttgactacaa
      661 cgagcagttc acctggcgtc tgaaagagaa ttacgccgcg gagtacgcga acgcactgga
      721 gaaggggctg ccggacccag tgctctacct ggcggagaag ttcacaccga gtagcccttg
      781 cggcctgtac caccagtacc acctggcggg acactacgcc tcggccacgc tatgggtggc
      841 gttctgcttc tggctcctct ccaacgtgct gctctccacg ccggccccgc tctacggagg
      901 cctggcactg ctgaccaccg gagccttcgc gctcttcggg gtcttcgcct tggcctccat
      961 ctctagcgtg ccgctctgcc cgctccgcct aggctcctcc gcgctcacca ctcagtacgg
     1021 cgccgccttc tgggtcacgc tggcaaccgg cgtcctgtgc ctcttcctcg gaggggccgt
     1081 ggtgagtctc cagtatgttc ggcccagcgc tcttcgcacc cttctggacc aaagcgccaa
     1141 ggactgcagc caggagagag ggggctcacc tcttatcctc ggcgacccac tgcacaagca
     1201 ggccgctctc ccagacttaa aatgtatcac cactaacctg tgagggggac ccaatctgga
     1261 ctccttcccc gccttgggac atcgcaggcc gggaagcagt gcccgccagg cctgggccag
     1321 gagagctcca ggaagggcac tgagcgctgc tggcgcgagg cctcggacat ccgcaggcac
     1381 cagggaaagt ctcctggggc gatctgtaaa taaacctttt tttcttttgt tttttaaaaa
     1441 ctgtttttcc cattaatttt catggcttct ccgcgccggg gtcgcacgtc ctcatgagct
     1501 tcgctgggct ggagacagcc tagtacactc tccgcagtgc tgtgaaacct gattctctgc
     1561 gtcgactcca gagtaatagg ggcgccctct agtgaggccg gagggaccct accagagcta
     1621 gcatctttct gaaccacccc agggggacgt taggtggcag tgatgaggca ggtcacccac
     1681 tcccccgtcc tggatgccac tcagctagcc cagctgagtg gggtgggaag gaatagcgtt
     1741 ttggagttga ttccc
//
