Gene Gene information from NCBI Gene database.
Entrez ID 50506
Gene name Dual oxidase 2
Gene symbol DUOX2
Synonyms (NCBI Gene)
LNOX2NOXEF2P138-TOXTDH6THOX2
Chromosome 15
Chromosome location 15q21.1
Summary The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide tra
SNPs SNP information provided by dbSNP.
29
SNP ID Visualize variation Clinical significance Consequence
rs119472026 G>A,C Pathogenic Missense variant, coding sequence variant, stop gained
rs119472027 G>A Pathogenic Coding sequence variant, stop gained
rs119472028 G>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs119472029 G>A,T Pathogenic Missense variant, coding sequence variant, synonymous variant
rs139161034 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
87
miRTarBase ID miRNA Experiments Reference
MIRT640115 hsa-miR-513b-3p HITS-CLIP 23824327
MIRT640114 hsa-miR-4661-3p HITS-CLIP 23824327
MIRT640113 hsa-miR-105-5p HITS-CLIP 23824327
MIRT640112 hsa-miR-7853-5p HITS-CLIP 23824327
MIRT640111 hsa-miR-6847-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0004601 Function Peroxidase activity IEA
GO:0005509 Function Calcium ion binding IDA 15972824
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 19339556, 25761904
GO:0005783 Component Endoplasmic reticulum IDA 19339556
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606759 13273 ENSG00000140279
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NRD8
Protein name Dual oxidase 2 (EC 1.11.1.-) (EC 1.6.3.1) (Large NOX 2) (Long NOX 2) (NADH/NADPH thyroid oxidase p138-tox) (NADPH oxidase/peroxidase DUOX2) (NADPH thyroid oxidase 2) (Thyroid oxidase 2) (p138 thyroid oxidase)
Protein function Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have it
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03098 An_peroxidase 35 560 Animal haem peroxidase Domain
PF00036 EF-hand_1 823 851 EF hand Domain
PF01794 Ferric_reduct 1084 1233 Ferric reductase like transmembrane component Family
PF08022 FAD_binding_8 1269 1371 FAD-binding domain Domain
PF08030 NAD_binding_6 1377 1531 Ferric reductase NAD binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in colon, small intestine, duodenum and tracheal surface epithelial cells (at protein level). Expressed in thyrocytes. Also detected in kidney, liver, lung, pancreas, prostate, salivary glands, rectum and testis. {ECO:0000269
Sequence
MLRARPEALMLLGALLTGSLGPSGNQDALSLPWEVQRYDGWFNNLRHHERGAVGCRLQRR
VPANYADGVYQALEEPQLPNPRRLSNAATRGIAGLPSLHNRTVLGVFFGYHVLSDVVSVE
TPGCPAEFLNIRIPPGDPVFDPDQRGDVVLPFQRSRWDPETGRSPSNPRDLANQVTGWLD
GSAIYGSSHSWSDALRSFSGGQLASGPDPAFPRDSQNPLLMWAAPDPATGQNGPRGLYAF
GAERGNREPFLQALGLLWFRYHNLWAQRLARQHPDWEDEELFQHARKRVIATYQNIAVYE
WLPSFLQKTLPEYTGYRPFLDPSISPEFVVASEQFFSTMVPPGVYMRNASCHFRKVLNKG
FQSSQALRVCNNYWIRENPNLNSTQEVNELLLGMASQISELEDNIVVEDLRDYWPGPGKF
SRTDYVASSIQRGRDMGLPSYSQALLAFGLDIPRNWSDLNPNVDPQVLEATAALYNQDLS
QLELLLGGLLESHGDPGPLFSAIVLDQFVRLRDGDRYWFENTRNGLFSKKEIEDIRNTTL
RDVLVAVINIDPSALQPNVF
VWHKGAPCPQPKQLTTDGLPQCAPLTVLDFFEGSSPGFAI
TIIALCCLPLVSLLLSGVVAYFRGREHKKLQKKLKESVKKEAAKDGVPAMEWPGPKERSS
PIIIQLLSDRCLQVLNRHLTVLRVVQLQPLQQVNLILSNNRGCRTLLLKIPKEYDLVLLF
SSEEERGAFVQQLWDFCVRWALGLHVAEMSEKELFRKAVTKQQRERILEIFFRHLFAQVL
DINQADAGTLPLDSSQKVREALTCELSRAEFAESLGLKPQDMFVESMFSLADKDGNGYLS
FREFLDILVVF
MKGSPEDKSRLMFTMYDLDENGFLSKDEFFTMMRSFIEISNNCLSKAQL
AEVVESMFRESGFQDKEELTWEDFHFMLRDHDSELRFTQLCVKGGGGGGNGIRDIFKQNI
SCRVSFITRTPGERSHPQGLGPPAPEAPELGGPGLKKRFGKKAAVPTPRLYTEALQEKMQ
RGFLAQKLQQYKRFVENYRRHIVCVAIFSAICVGVFADRAYYYGFASPPSDIAQTTLVGI
ILSRGTAASVSFMFSYILLTMCRNLITFLRETFLNRYVPFDAAVDFHRWIAMAAVVLAIL
HSAGHAVNVYIFSVSPLSLLACIFPNVFVNDGSKLPQKFYWWFFQTVPGMTGVLLLLVLA
IMYVFASHHFRRRSFRGFWLTHHLYILLYALLI
IHGSYALIQLPTFHIYFLVPAIIYGGD
KLVSLSRKKVEISVVKAELLPSGVTYLQFQRPQGFEYKSGQWVRIACLALGTTEYHPFTL
TSAPHEDTLSLHIRAVGPWTTRLREIYSSPKGNGCAGYPKLYLDGPFGEGH
QEWHKFEVS
VLVGGGIGVTPFASILKDLVFKSSLGSQMLCKKIYFIWVTRTQRQFEWLADIIQEVEEND
HQDLVSVHIYVTQLAEKFDLRTTMLYICERHFQKVLNRSLFTGLRSITHFGRPPFEPFFN
SLQEVHPQVRKIGVFSCGPPGMTKNVEKACQ
LVNRQDRAHFMHHYENF
Sequence length 1548
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Thyroid hormone synthesis   Thyroxine biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
518
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Likely pathogenic; Pathogenic rs147452041 RCV005931966
Colorectal cancer Likely pathogenic rs371960046 RCV005922462
Congenital hypothyroidism Likely pathogenic; Pathogenic rs2141143881, rs530719719, rs567500345, rs531536885 RCV001449802
RCV000991174
RCV001270329
RCV006437018
DUOX2-related disorder Likely pathogenic; Pathogenic rs200717240, rs368512412, rs530719719, rs762588205, rs119472029, rs191759494, rs567500345, rs180671269, rs977021576, rs935436918, rs776336201, rs772809435 RCV004751965
RCV003966228
RCV003398870
RCV004750806
RCV003398443
RCV003417764
RCV003909901
RCV004751435
RCV003402162
RCV003394351
RCV003921379
RCV003896955
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Conflicting classifications of pathogenicity rs112428007 RCV005907854
Cervical cancer Benign; Conflicting classifications of pathogenicity rs77512689, rs112428007 RCV005923516
RCV005907855
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs112428007 RCV005907856
Familial cancer of breast Benign rs269869 RCV005892900
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 33628596
Adenomatous Polyposis Coli Associate 33628596
Alcoholism Associate 36577732
Anemia Sickle Cell Associate 21114906
Angelman Syndrome Associate 36028527
Asthma Associate 24518246
Atherosclerosis Associate 33851807
Autism Spectrum Disorder Associate 31595719
Carcinogenesis Associate 21915726
Carcinoma Hepatocellular Associate 21915726, 27282266