| Type | Description |
|---|---|
| Definition | dual oxidase maturation factor 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-03 12:54:00 | DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom. | 31044655 |
| 2020-06-20 12:47:00 | H2O2 produced by the Duox2/DuoxA2 cell surface enzymatic complex could provoke potential mutagenic DNA damage. | 31513783 |
| 2017-10-21 12:24:00 | This study reports the pedigree with goitrous congenital hypothyroidism (GCH) due to the coexistence of heterozygous mutations in the DUOX2 and DUOXA2 genes. | 28541007 |
| 2017-07-29 11:24:00 | DUOXA2 gene mutation is a common molecular pathogenic basis for congenital hypothyroidism children with suspected thyroid dyshormonogenesis in Guangzhou. | 28100324 |
| 2016-07-30 11:52:00 | inactivating mutations in the DUOXA2 (p.Y246X) and DUOX2 (p.R885Q) genes were identified in a set of dizygotic twins with congenital hypothyroidism | 27349010 |
| Type | IDs |
|---|---|
| Synonymous | SIMNIPHOM, TDH5 |
| Gene |
UniProtKB-ID:
DOXA2_HUMAN
UniprotKB:
Q1HG44
UniParc:
UPI000035960A,
UPI000049DDDD
EMBL:
BC137465,
DQ489734,
CH471082,
AC091117,
BX537581
Ensembl:
ENSG00000140274
KO:
hsa:405753
|
| Nucleutide sequences |
EMBL-CDS:
AAI37466.1,
ABF48256.1,
EAW77289.1
Ensembl_TRS:
ENST00000323030,
ENST00000491993
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000454110,
ENSP00000319705
RefSeq:
NP_997464.2,
XP_016877669.1
|
| Others |
UniRef100:
UniRef100_Q1HG44
UniRef90:
UniRef90_Q1HG44
UniRef50:
UniRef50_Q1HG44
UniGene:
Hs.497987
CCDS:
CCDS10118.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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