DUOX2
entrez
50506
canonical
uniprot
Q9NRD8
canonical
ensembl
ENSG00000140279
resolver
ensp
ENSP00000373691
resolver
ensp
ENSP00000475084
resolver
enst
ENST00000389039
resolver
enst
ENST00000603300
resolver
genesymbol
DUOX2
resolver
genesymbol_syn
LNOX2
resolver
genesymbol_syn
THOX2
resolver
hgnc
HGNC:13273
resolver
uniprot
A8MQ13
resolver
uniprot
D2XI64
resolver
uniprot
Q9NR02
resolver
uniprot
Q9UHF9
resolver
uniprot
X6RAN8
resolver
uniprot_entry
DUOX2_HUMAN
resolver
uniprot_entry
X6RAN8_HUMAN
resolver
uniprot_sec
A8MQ13
resolver
uniprot_sec
D2XI64
resolver
uniprot_sec
Q9NR02
resolver
uniprot_sec
Q9UHF9
resolver
activity_regulation
ACTIVITY REGULATION: Peroxidase activity is inhibited by aminobenzohydrazide (By similarity). The NADPH oxidase activity is calcium-dependent (PubMed:15972824). {ECO:0000250|UniProtKB:Q9NRD9, ECO:0000269|PubMed:15972824}.
uniprot
proteins
amino_acid_sequence
MLRARPEALMLLGALLTGSLGPSGNQDALSLPWEVQRYDGWFNNLRHHERGAVGCRLQRRVPANYADGVYQALEEPQLPNPRRLSNAATRGIAGLPSLHNRTVLGVFFGYHVLSDVVSVETPGCPAEFLNIRIPPGDPVFDPDQRGDVVLPFQRSRWDPETGRSPSNPRDLANQVTGWLDGSAIYGSSHSWSDALRSFSGGQLASGPDPAFPRDSQNPLLMWAAPDPATGQNGPRGLYAFGAERGNREPFLQALGLLWFRYHNLWAQRLARQHPDWEDEELFQHARKRVIATYQNIAVYEWLPSFLQKTLPEYTGYRPFLDPSISPEFVVASEQFFSTMVPPGVYMRNASCHFRKVLNKGFQSSQALRVCNNYWIRENPNLNSTQEVNELLLGMASQISELEDNIVVEDLRDYWPGPGKFSRTDYVASSIQRGRDMGLPSYSQALLAFGLDIPRNWSDLNPNVDPQVLEATAALYNQDLSQLELLLGGLLESHGDPGPLFSAIVLDQFVRLRDGDRYWFENTRNGLFSKKEIEDIRNTTLRDVLVAVINIDPSALQPNVFVWHKGAPCPQPKQLTTDGLPQCAPLTVLDFFEGSSPGFAITIIALCCLPLVSLLLSGVVAYFRGREHKKLQKKLKESVKKEAAKDGVPAMEWPGPKERSSPIIIQLLSDRCLQVLNRHLTVLRVVQLQPLQQVNLILSNNRGCRTLLLKIPKEYDLVLLFSSEEERGAFVQQLWDFCVRWALGLHVAEMSEKELFRKAVTKQQRERILEIFFRHLFAQVLDINQADAGTLPLDSSQKVREALTCELSRAEFAESLGLKPQDMFVESMFSLADKDGNGYLSFREFLDILVVFMKGSPEDKSRLMFTMYDLDENGFLSKDEFFTMMRSFIEISNNCLSKAQLAEVVESMFRESGFQDKEELTWEDFHFMLRDHDSELRFTQLCVKGGGGGGNGIRDIFKQNISCRVSFITRTPGERSHPQGLGPPAPEAPELGGPGLKKRFGKKAAVPTPRLYTEALQEKMQRGFLAQKLQQYKRFVENYRRHIVCVAIFSAICVGVFADRAYYYGFASPPSDIAQTTLVGIILSRGTAASVSFMFSYILLTMCRNLITFLRETFLNRYVPFDAAVDFHRWIAMAAVVLAILHSAGHAVNVYIFSVSPLSLLACIFPNVFVNDGSKLPQKFYWWFFQTVPGMTGVLLLLVLAIMYVFASHHFRRRSFRGFWLTHHLYILLYALLIIHGSYALIQLPTFHIYFLVPAIIYGGDKLVSLSRKKVEISVVKAELLPSGVTYLQFQRPQGFEYKSGQWVRIACLALGTTEYHPFTLTSAPHEDTLSLHIRAVGPWTTRLREIYSSPKGNGCAGYPKLYLDGPFGEGHQEWHKFEVSVLVGGGIGVTPFASILKDLVFKSSLGSQMLCKKIYFIWVTRTQRQFEWLADIIQEVEENDHQDLVSVHIYVTQLAEKFDLRTTMLYICERHFQKVLNRSLFTGLRSITHFGRPPFEPFFNSLQEVHPQVRKIGVFSCGPPGMTKNVEKACQLVNRQDRAHFMHHYENF
uniprot
proteins
disease_involvement
DISEASE: Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200]: A disorder due to a defective conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or complete. {ECO:0000269|PubMed:12110737, ECO:0000269|PubMed:16134168, ECO:0000269|PubMed:16322276, ECO:0000269|PubMed:20187165}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in DUOX2 may play a role in the pathogenesis of very early onset inflammatory bowel disease (VEOIBD), a chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology diagnosed before 6 years of age. VEOIBD is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but the phenotype of children with onset of Crohn disease occurring younger than the age of 10 is predominantly colonic, with a lower risk of ileal disease. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO:0000269|PubMed:26301257}.
uniprot
proteins
ec_number
1.-.-.-
uniprot
proteins
ec_number
1.11.1.-
uniprot
proteins
ec_number
1.6.3.1
uniprot
proteins
function
FUNCTION: Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO (PubMed:15972824). Plays a role in thyroid hormone synthesis. Also required for lactoperoxidase-mediated antimicrobial defense at the surface of mucosa (PubMed:12824283). Synthesizes NAADP from its reduced NAADPH form which promotes Ca(2+) signaling during T cell activation (PubMed:34784249). May have its own peroxidase activity through its N-terminal peroxidase-like domain. {ECO:0000269|PubMed:12824283, ECO:0000269|PubMed:15972824, ECO:0000269|PubMed:34784249}.
uniprot
proteins
mass_dalton
175364
uniprot
proteins
pathway_participation
PATHWAY: Hormone biosynthesis; thyroid hormone biosynthesis.
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:11822874}.
uniprot
proteins
protein_family
Peroxidase family
uniprot
proteins
pubmed
10601291
uniprot
proteins
pubmed
10806195
uniprot
proteins
pubmed
11514595
uniprot
proteins
pubmed
11822874
uniprot
proteins
pubmed
12110737
uniprot
proteins
pubmed
12824283
uniprot
proteins
pubmed
15210697
uniprot
proteins
pubmed
15561711
uniprot
proteins
pubmed
15591162
uniprot
proteins
pubmed
15972824
uniprot
proteins
pubmed
16134168
uniprot
proteins
pubmed
16322276
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
20187165
uniprot
proteins
pubmed
25761904
uniprot
proteins
pubmed
26301257
uniprot
proteins
pubmed
34784249
uniprot
proteins
pubmed
39126279
uniprot
proteins
sequence_length
1548
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:15591162, ECO:0000269|PubMed:26301257, ECO:0000269|PubMed:34784249, ECO:0000269|PubMed:39126279}; Multi-pass membrane protein {ECO:0000269|PubMed:15591162}. Cell junction {ECO:0000269|PubMed:26301257}. Note=Localizes to the apical membrane of epithelial cells. Localizes on internal membrane structures under resting conditions, translocates to the plasma membrane and cell-cell junctions upon challenge with enteric pathogens, such as Escherichia coli. {ECO:0000269|PubMed:26301257}.
uniprot
proteins
transmembrane_region
TRANSMEM 602..622; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1042..1062; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1077..1097; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1129..1151; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1186..1206; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1224..1244; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1245..1265; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins