DUOXA2
entrez
405753
canonical
uniprot
Q1HG44
canonical
ensembl
ENSG00000140274
resolver
ensp
ENSP00000319705
resolver
genesymbol
DUOXA2
resolver
hgnc
HGNC:32698
resolver
uniprot
B2RPI9
resolver
uniprot
H0YNQ6
resolver
uniprot_entry
DOXA2_HUMAN
resolver
uniprot_sec
B2RPI9
resolver
uniprot_sec
H0YNQ6
resolver
amino_acid_sequence
MTLWNGVLPFYPQPRHAAGFSVPLLIVILVFLALAASFLLILPGIRGHSRWFWLVRVLLSLFIGAEIVAVHFSAEWFVGTVNTNTSYKAFSAARVTARVRLLVGLEGINITLTGTPVHQLNETIDYNEQFTWRLKENYAAEYANALEKGLPDPVLYLAEKFTPSSPCGLYHQYHLAGHYASATLWVAFCFWLLSNVLLSTPAPLYGGLALLTTGAFALFGVFALASISSVPLCPLRLGSSALTTQYGAAFWVTLATGVLCLFLGGAVVSLQYVRPSALRTLLDQSAKDCSQERGGSPLILGDPLHKQAALPDLKCITTNL
uniprot
proteins
disease_involvement
DISEASE: Thyroid dyshormonogenesis 5 (TDH5) [MIM:274900]: A disorder due to thyroid dyshormonogenesis, causing hypothyroidism, goiter, and variable mental deficits derived from unrecognized and untreated hypothyroidism. {ECO:0000269|PubMed:18042646, ECO:0000269|PubMed:25675383}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for the maturation and transport of functional DUOX2 from the endoplasmic reticulum to the plasma membrane (PubMed:16651268). Recruits DUOX2 to the apical cell membrane (PubMed:39126279). {ECO:0000269|PubMed:16651268, ECO:0000269|PubMed:39126279}.
uniprot
proteins
mass_dalton
34787
uniprot
proteins
mutagenesis
MUTAGEN 84; /note="N->Q: Reduces DUOXA2 stability but does not affect interaction with DUOX1 or targeting of DUOX1 to the apical cell membrane; when associated with Q-109 and Q-121."; /evidence="ECO:0000269|PubMed:39126279"; MUTAGEN 109; /note="N->Q: Reduces DUOXA2 stability but does not affect interaction with DUOX1 or targeting of DUOX1 to the apical cell membrane; when associated with Q-84 and Q-121."; /evidence="ECO:0000269|PubMed:39126279"; MUTAGEN 121; /note="N->Q: Reduces DUOXA2 stability but does not affect interaction with DUOX1 or targeting of DUOX1 to the apical cell membrane; when associated with Q-84 and Q-109."; /evidence="ECO:0000269|PubMed:39126279
uniprot
proteins
post_translational_modification
PTM: N-glycosylated; this is required for DUOXA2 protein stability but not for interaction with DUOX2 or for localization of DUOX2 to the apical cell membrane. {ECO:0000269|PubMed:16651268, ECO:0000269|PubMed:39126279}.
uniprot
proteins
protein_family
DUOXA family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
16651268
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18042646
uniprot
proteins
pubmed
25675383
uniprot
proteins
pubmed
25761904
uniprot
proteins
pubmed
37099597
uniprot
proteins
pubmed
39126279
uniprot
proteins
sequence_length
320
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16651268}; Multi-pass membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000269|PubMed:39126279}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 22..42; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 57..77; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 184..204; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 207..227; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 248..268; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins