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Protein

Dual oxidase maturation factor 2

Gene

DUOXA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX2. May play a role in thyroid hormone synthesis.1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Dual oxidase maturation factor 2
Alternative name(s):
Dual oxidase activator 2
Gene namesi
Name:DUOXA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:32698. DUOXA2.

Subcellular locationi

  • Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2121ExtracellularSequence analysisAdd
BLAST
Transmembranei22 – 4221HelicalSequence analysisAdd
BLAST
Topological domaini43 – 5614CytoplasmicSequence analysisAdd
BLAST
Transmembranei57 – 7721HelicalSequence analysisAdd
BLAST
Topological domaini78 – 183106ExtracellularSequence analysisAdd
BLAST
Transmembranei184 – 20421HelicalSequence analysisAdd
BLAST
Topological domaini205 – 2062CytoplasmicSequence analysis
Transmembranei207 – 22721HelicalSequence analysisAdd
BLAST
Topological domaini228 – 24720ExtracellularSequence analysisAdd
BLAST
Transmembranei248 – 26821HelicalSequence analysisAdd
BLAST
Topological domaini269 – 32052CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Thyroid dyshormonogenesis 5 (TDH5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder due to thyroid dyshormonogenesis, causing hypothyroidism, goiter, and variable mental deficits derived from unrecognized and untreated hypothyroidism.
See also OMIM:274900
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261I → M in TDH5; unknown pathological significance; impairs hydrogen peroxide metabolic process. 1 Publication
VAR_074025

Keywords - Diseasei

Congenital hypothyroidism

Organism-specific databases

MalaCardsiDUOXA2.
MIMi274900. phenotype.
Orphaneti95716. Familial thyroid dyshormonogenesis.
PharmGKBiPA145008523.

Polymorphism and mutation databases

BioMutaiDUOXA2.
DMDMi215274003.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 320320Dual oxidase maturation factor 2PRO_0000264245Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi84 – 841N-linked (GlcNAc...)Sequence analysis
Glycosylationi109 – 1091N-linked (GlcNAc...)Sequence analysis
Glycosylationi121 – 1211N-linked (GlcNAc...)Sequence analysis

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ1HG44.
PeptideAtlasiQ1HG44.
PRIDEiQ1HG44.

Expressioni

Tissue specificityi

Specifically expressed in thyroid. Also detected in salivary glands.1 Publication

Gene expression databases

BgeeiQ1HG44.
CleanExiHS_DUOXA2.
GenevisibleiQ1HG44. HS.

Organism-specific databases

HPAiHPA011085.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000319705.

Structurei

3D structure databases

ProteinModelPortaliQ1HG44.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DUOXA family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3921. Eukaryota.
ENOG410ZP7G. LUCA.
GeneTreeiENSGT00390000008240.
HOGENOMiHOG000231775.
HOVERGENiHBG080429.
InParanoidiQ1HG44.
KOiK17232.
OMAiHVGLYGI.
OrthoDBiEOG75QR4R.
PhylomeDBiQ1HG44.
TreeFamiTF312996.

Family and domain databases

InterProiIPR018469. Dual_oxidase_maturation_fac.
[Graphical view]
PfamiPF10204. DuoxA. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q1HG44-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTLWNGVLPF YPQPRHAAGF SVPLLIVILV FLALAASFLL ILPGIRGHSR
60 70 80 90 100
WFWLVRVLLS LFIGAEIVAV HFSAEWFVGT VNTNTSYKAF SAARVTARVR
110 120 130 140 150
LLVGLEGINI TLTGTPVHQL NETIDYNEQF TWRLKENYAA EYANALEKGL
160 170 180 190 200
PDPVLYLAEK FTPSSPCGLY HQYHLAGHYA SATLWVAFCF WLLSNVLLST
210 220 230 240 250
PAPLYGGLAL LTTGAFALFG VFALASISSV PLCPLRLGSS ALTTQYGAAF
260 270 280 290 300
WVTLATGVLC LFLGGAVVSL QYVRPSALRT LLDQSAKDCS QERGGSPLIL
310 320
GDPLHKQAAL PDLKCITTNL
Length:320
Mass (Da):34,787
Last modified:November 25, 2008 - v2
Checksum:i5B2F58E575A30E72
GO
Isoform 2 (identifier: Q1HG44-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     50-121: RWFWLVRVLL...LTGTPVHQLN → EYLHSHLLPS...QEVGVEGRCC
     122-320: Missing.

Show »
Length:121
Mass (Da):12,964
Checksum:i1B9DB53053918EF0
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261I → M in TDH5; unknown pathological significance; impairs hydrogen peroxide metabolic process. 1 Publication
VAR_074025
Natural varianti100 – 1001R → G.1 Publication
Corresponds to variant rs2576090 [ dbSNP | Ensembl ].
VAR_047367

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei50 – 12172RWFWL…VHQLN → EYLHSHLLPSEIRLGPPSSE GGDPCVPSTSGLTEPHQAVT GPGGRTRTRRQTARGVKVVE ECQEVGVEGRCC in isoform 2. 1 PublicationVSP_046554Add
BLAST
Alternative sequencei122 – 320199Missing in isoform 2. 1 PublicationVSP_046555Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ489734 mRNA. Translation: ABF48256.1.
BX537581 mRNA. No translation available.
AC091117 Genomic DNA. No translation available.
CH471082 Genomic DNA. Translation: EAW77289.1.
BC137465 mRNA. Translation: AAI37466.1.
CCDSiCCDS10118.2. [Q1HG44-1]
RefSeqiNP_997464.2. NM_207581.3. [Q1HG44-1]
UniGeneiHs.497987.

Genome annotation databases

EnsembliENST00000323030; ENSP00000319705; ENSG00000140274. [Q1HG44-1]
ENST00000491993; ENSP00000454110; ENSG00000140274. [Q1HG44-2]
GeneIDi405753.
KEGGihsa:405753.
UCSCiuc001zuo.4. human. [Q1HG44-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ489734 mRNA. Translation: ABF48256.1.
BX537581 mRNA. No translation available.
AC091117 Genomic DNA. No translation available.
CH471082 Genomic DNA. Translation: EAW77289.1.
BC137465 mRNA. Translation: AAI37466.1.
CCDSiCCDS10118.2. [Q1HG44-1]
RefSeqiNP_997464.2. NM_207581.3. [Q1HG44-1]
UniGeneiHs.497987.

3D structure databases

ProteinModelPortaliQ1HG44.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000319705.

Polymorphism and mutation databases

BioMutaiDUOXA2.
DMDMi215274003.

Proteomic databases

PaxDbiQ1HG44.
PeptideAtlasiQ1HG44.
PRIDEiQ1HG44.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000323030; ENSP00000319705; ENSG00000140274. [Q1HG44-1]
ENST00000491993; ENSP00000454110; ENSG00000140274. [Q1HG44-2]
GeneIDi405753.
KEGGihsa:405753.
UCSCiuc001zuo.4. human. [Q1HG44-1]

Organism-specific databases

CTDi405753.
GeneCardsiDUOXA2.
H-InvDBHIX0026906.
HGNCiHGNC:32698. DUOXA2.
HPAiHPA011085.
MalaCardsiDUOXA2.
MIMi274900. phenotype.
612772. gene.
neXtProtiNX_Q1HG44.
Orphaneti95716. Familial thyroid dyshormonogenesis.
PharmGKBiPA145008523.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3921. Eukaryota.
ENOG410ZP7G. LUCA.
GeneTreeiENSGT00390000008240.
HOGENOMiHOG000231775.
HOVERGENiHBG080429.
InParanoidiQ1HG44.
KOiK17232.
OMAiHVGLYGI.
OrthoDBiEOG75QR4R.
PhylomeDBiQ1HG44.
TreeFamiTF312996.

Miscellaneous databases

GenomeRNAii405753.
PROiQ1HG44.
SOURCEiSearch...

Gene expression databases

BgeeiQ1HG44.
CleanExiHS_DUOXA2.
GenevisibleiQ1HG44. HS.

Family and domain databases

InterProiIPR018469. Dual_oxidase_maturation_fac.
[Graphical view]
PfamiPF10204. DuoxA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent."
    Grasberger H., Refetoff S.
    J. Biol. Chem. 281:18269-18272(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, GLYCOSYLATION, VARIANT GLY-100.
    Tissue: Thyroid.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. "Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism."
    Zamproni I., Grasberger H., Cortinovis F., Vigone M.C., Chiumello G., Mora S., Onigata K., Fugazzola L., Refetoff S., Persani L., Weber G.
    J. Clin. Endocrinol. Metab. 93:605-610(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN TDH5.
  7. "A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs NADPH oxidase activity but not protein expression."
    Liu S., Liu L., Niu X., Lu D., Xia H., Yan S.
    J. Clin. Endocrinol. Metab. 100:1225-1229(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TDH5 MET-26, CHARACTERIZATION OF VARIANT TDH5 MET-26.

Entry informationi

Entry nameiDOXA2_HUMAN
AccessioniPrimary (citable) accession number: Q1HG44
Secondary accession number(s): B2RPI9, H0YNQ6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: November 25, 2008
Last modified: July 6, 2016
This is version 81 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.