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Aliases for DUOXA2 Gene

Aliases for DUOXA2 Gene

  • Dual Oxidase Maturation Factor 2 2 3
  • TDH5 3 6
  • Dual Oxidase Activator 2 4
  • SIMNIPHOM 3

External Ids for DUOXA2 Gene

Summaries for DUOXA2 Gene

Entrez Gene Summary for DUOXA2 Gene

  • This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010]

GeneCards Summary for DUOXA2 Gene

DUOXA2 (Dual Oxidase Maturation Factor 2) is a Protein Coding gene. Diseases associated with DUOXA2 include thyroid dyshormonogenesis 5 and familial thyroid dyshormonogenesis. Among its related pathways are Insulin secretion. An important paralog of this gene is DUOXA1.

UniProtKB/Swiss-Prot for DUOXA2 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DUOXA2 Gene

Genomics for DUOXA2 Gene

Genomic Location for DUOXA2 Gene

Start:
45,114,321 bp from pter
End:
45,118,421 bp from pter
Size:
4,101 bases
Orientation:
Plus strand

Genomic View for DUOXA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DUOXA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DUOXA2 Gene

Regulatory Elements for DUOXA2 Gene

Proteins for DUOXA2 Gene

  • Protein details for DUOXA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q1HG44-DOXA2_HUMAN
    Recommended name:
    Dual oxidase maturation factor 2
    Protein Accession:
    Q1HG44
    Secondary Accessions:
    • B2RPI9
    • H0YNQ6

    Protein attributes for DUOXA2 Gene

    Size:
    320 amino acids
    Molecular mass:
    34787 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DUOXA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DUOXA2 Gene

Proteomics data for DUOXA2 Gene at MOPED

Post-translational modifications for DUOXA2 Gene

Other Protein References for DUOXA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DUOXA2 Gene

Domains for DUOXA2 Gene

Protein Domains for DUOXA2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

DOXA2_HUMAN
Family:
  • Belongs to the DUOXA family.:
    • Q1HG44
genes like me logo Genes that share domains with DUOXA2: view

No data available for Gene Families for DUOXA2 Gene

Function for DUOXA2 Gene

Molecular function for DUOXA2 Gene

UniProtKB/Swiss-Prot Function: 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.
genes like me logo Genes that share phenotypes with DUOXA2: view

Animal Models for DUOXA2 Gene

MGI Knock Outs for DUOXA2:

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targeting and HOMER Transcription for DUOXA2 Gene

Localization for DUOXA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DUOXA2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DUOXA2 Gene COMPARTMENTS Subcellular localization image for DUOXA2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for DUOXA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DUOXA2: view

Pathways for DUOXA2 Gene

SuperPathways for DUOXA2 Gene

Superpath Contained pathways
1 Insulin secretion
genes like me logo Genes that share pathways with DUOXA2: view

Pathways by source for DUOXA2 Gene

1 KEGG pathway for DUOXA2 Gene

Interacting Proteins for DUOXA2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000319705%0d%0a9606.ENSP00000373691%0d%0a
Selected Interacting proteins: ENSP00000319705 for DUOXA2 Gene via STRING

Symbol External ID(s) Details
DUOX2

Gene Ontology (GO) - Biological Process for DUOXA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0042743 hydrogen peroxide metabolic process IEA --
GO:0050727 regulation of inflammatory response IEA --
GO:2000609 regulation of thyroid hormone generation IEA --
genes like me logo Genes that share ontologies with DUOXA2: view

Transcripts for DUOXA2 Gene

mRNA/cDNA for DUOXA2 Gene

Unigene Clusters for DUOXA2 Gene

Dual oxidase maturation factor 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DUOXA2 Gene

No ASD Table

Relevant External Links for DUOXA2 Gene

GeneLoc Exon Structure for
DUOXA2
ECgene alternative splicing isoforms for
DUOXA2

Expression for DUOXA2 Gene

mRNA expression in normal human tissues for DUOXA2 Gene

mRNA differential expression in normal tissues according to GTEx for DUOXA2 Gene

This gene is overexpressed in Stomach (16.2), Thyroid (8.3), Esophagus - Mucosa (6.3), and Vagina (5.6).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for DUOXA2 Gene

SOURCE GeneReport for Unigene cluster for DUOXA2 Gene Hs.497987

mRNA Expression by UniProt/SwissProt for DUOXA2 Gene

Q1HG44-DOXA2_HUMAN
Tissue specificity: Specifically expressed in thyroid. Also detected in salivary glands.
genes like me logo Genes that share expressions with DUOXA2: view

Orthologs for DUOXA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DUOXA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DUOXA2 36
  • 99.27 (n)
  • 99.06 (a)
DUOXA2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DUOXA2 36
  • 82.03 (n)
  • 79.62 (a)
DUOXA2 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DUOXA2 36
  • 84.54 (n)
  • 83.07 (a)
DUOXA2 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Duoxa2 36
  • 81.39 (n)
  • 78.55 (a)
Duoxa2 16
Duoxa2 37
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DUOXA2 37
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DUOXA2 37
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Duoxa2 36
  • 80.02 (n)
  • 78.23 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 42 (a)
ManyToMany
-- 37
  • 44 (a)
ManyToMany
DUOXA1L 36
  • 58.36 (n)
  • 49.83 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 50 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733132 36
  • 51.57 (n)
  • 45.93 (a)
zebrafish
(Danio rerio)
Actinopterygii DUOXA1 37
  • 44 (a)
OneToMany
LOC100330288 36
  • 57.31 (n)
  • 48.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta mol 37
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea doxa-1 37
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 33 (a)
ManyToMany
CSA.1230 37
  • 17 (a)
ManyToMany
Species with no ortholog for DUOXA2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DUOXA2 Gene

ENSEMBL:
Gene Tree for DUOXA2 (if available)
TreeFam:
Gene Tree for DUOXA2 (if available)

Paralogs for DUOXA2 Gene

Paralogs for DUOXA2 Gene

Selected SIMAP similar genes for DUOXA2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DUOXA2: view

Variants for DUOXA2 Gene

Sequence variations from dbSNP and Humsavar for DUOXA2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs2252371 -- 45,116,501(+) GAGCC(C/T)GCCTC intron-variant
rs2252479 -- 45,116,815(+) GAGGC(A/G)CTGAG intron-variant
rs2554459 -- 45,116,512(+) ACCCC(A/G)CAGGG intron-variant
rs2576090 - 45,116,216(+) GTGTC(C/G)GTCTG reference, missense
rs2576091 -- 45,116,493(+) AGCCC(C/G)ATGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DUOXA2 Gene

Variant ID Type Subtype PubMed ID
dgv744e1 CNV Complex 17122850
nsv7264 OTHER Inversion 18451855
dgv2378n71 CNV Loss 21882294

Relevant External Links for DUOXA2 Gene

HapMap Linkage Disequilibrium report
DUOXA2
Human Gene Mutation Database (HGMD)
DUOXA2

Disorders for DUOXA2 Gene

(1) OMIM Diseases for DUOXA2 Gene (612772)

UniProtKB/Swiss-Prot

DOXA2_HUMAN
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for DUOXA2 Gene

Relevant External Links for DUOXA2

Human Genome Epidemiology (HuGE) Navigator
DUOXA2
genes like me logo Genes that share disorders with DUOXA2: view

Publications for DUOXA2 Gene

  1. Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. (PMID: 16651268) Grasberger H. … Refetoff S. (J. Biol. Chem. 2006) 2 3 4
  2. Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. (PMID: 18042646) Zamproni I. … Weber G. (J. Clin. Endocrinol. Metab. 2008) 3 4
  3. Five mucosal transcripts of interest in ulcerative colitis identified by quantitative real-time PCR: a prospective study. (PMID: 18700007) Eriksson A. … Lange S. (BMC Gastroenterol 2008) 3
  4. Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells. (PMID: 19339556) Luxen S. … Knaus U.G. (J. Cell. Sci. 2009) 3
  5. Up-regulation and sustained activation of Stat1 are essential for interferon-gamma (IFN-gamma)-induced dual oxidase 2 (Duox2) and dual oxidase A2 (DuoxA2) expression in human pancreatic cancer cell lines. (PMID: 21321110) Wu Y. … Doroshow J.H. (J. Biol. Chem. 2011) 3

Products for DUOXA2 Gene

  • antibodies-online peptides for DUOXA2
  • antibodies-online antibodies for DUOXA2
  • antibodies-online kits for DUOXA2

Sources for DUOXA2 Gene

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