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Aliases for DUOXA2 Gene

Aliases for DUOXA2 Gene

  • Dual Oxidase Maturation Factor 2 2 3 5
  • Dual Oxidase Activator 2 4
  • SIMNIPHOM 3
  • TDH5 3

External Ids for DUOXA2 Gene

Previous GeneCards Identifiers for DUOXA2 Gene

  • GC15P043194
  • GC15P045406
  • GC15P022230

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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DUOXA2 Gene

Genomics for DUOXA2 Gene

Regulatory Elements for DUOXA2 Gene

Enhancers for DUOXA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G045133 0.7 dbSUPER 12 +20.8 20774 3.4 CTCF KLF1 SUZ12 NFIB TEAD4 CEBPG RAD21 ZNF207 NFE2 RELB DUOX1 ENSG00000259539 DUOX2 DUOXA2 LOC100533853 GC15P045136 GC15P045137 GC15P045138 GC15P045139 GC15P045140
GH15G045160 0.4 dbSUPER 10.9 +46.4 46365 1.3 POLR2A DUOXA1 ENSG00000259539 SHF DUOX1 DUOX2 DUOXA2 SLC28A2 LOC101928414 GC15P045136 GC15P045137
GH15G045122 0.6 ENCODE 6.9 +8.0 7971 0.1 FOSL1 GATA2 BHLHE40 FOS ZNF24 IKZF2 DUOXA2 PIR50334 PIR34094
GH15G045091 0.7 ENCODE 0.3 -22.6 -22595 0.5 FOXA2 JUN KLF17 CEBPG ZNF644 RARA FOSL1 FOS TRIM24 SMARCE1 ENSG00000259352 DUOXA2
GH15G045079 0.7 dbSUPER 0.3 -33.9 -33863 2.8 HDGF CTCF SMARCE1 RB1 RNF2 NR4A1 DPF2 RAD21 CREB3 ARID1B ENSG00000259187 DUOX1 SORD2P ENSG00000259352 DUOXA2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DUOXA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DUOXA2 Gene

Chromosome:
15
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

Genes around DUOXA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DUOXA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DUOXA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for DUOXA2 Gene

Protein Domains for DUOXA2 Gene

Suggested Antigen Peptide Sequences for DUOXA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q1HG44

UniProtKB/Swiss-Prot:

DOXA2_HUMAN :
  • Belongs to the DUOXA family.
Family:
  • Belongs to the DUOXA family.
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

Human Phenotype Ontology for DUOXA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DUOXA2 Gene

MGI Knock Outs for DUOXA2:

Animal Model Products

  • Taconic Biosciences Mouse Models for DUOXA2

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DUOXA2 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4

Gene Ontology (GO) - Cellular Components for DUOXA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA,IBA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DUOXA2: view

Pathways & Interactions for DUOXA2 Gene

SuperPathways for DUOXA2 Gene

SuperPathway 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://version10.5.string-db.org/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 Q1HG44-DOXA2_HUMAN for DUOXA2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for DUOXA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
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

No data available for SIGNOR curated interactions for DUOXA2 Gene

Drugs & Compounds for DUOXA2 Gene

No Compound Related Data Available

Transcripts for DUOXA2 Gene

mRNA/cDNA for DUOXA2 Gene

Unigene Clusters for DUOXA2 Gene

Dual oxidase maturation factor 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for DUOXA2 Gene

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

This gene is overexpressed in Stomach (x16.2), Thyroid (x8.3), Esophagus - Mucosa (x6.3), and Vagina (x5.6).

Protein differential expression in normal tissues from HIPED for DUOXA2 Gene

This gene is overexpressed in Islet of Langerhans (39.9), Stomach (11.2), Liver (9.2), and Synovial fluid (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DUOXA2 Gene



Protein tissue co-expression partners for DUOXA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DUOXA2 Gene:

DUOXA2

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.

Evidence on tissue expression from TISSUES for DUOXA2 Gene

  • Thyroid gland(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DUOXA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
Thorax:
  • breast
  • heart
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
Pelvis:
  • ovary
  • rectum
  • urinary bladder
  • uterus
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with DUOXA2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for DUOXA2 Gene

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 34 35
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia DUOXA2 34 35
  • 84.54 (n)
cow
(Bos Taurus)
Mammalia DUOXA2 34 35
  • 82.03 (n)
mouse
(Mus musculus)
Mammalia Duoxa2 34 16 35
  • 81.39 (n)
rat
(Rattus norvegicus)
Mammalia Duoxa2 34
  • 80.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DUOXA2 35
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DUOXA2 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves DUOXA1L 34
  • 58.36 (n)
-- 35
  • 44 (a)
ManyToMany
-- 35
  • 42 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 50 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733132 34
  • 51.57 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100330288 34
  • 57.31 (n)
DUOXA1 35
  • 44 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta mol 35
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea doxa-1 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
ManyToMany
CSA.1230 35
  • 17 (a)
ManyToMany
Species where no ortholog for DUOXA2 was found in the sources mined by GeneCards:
  • 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

(1) 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
VAR_074025 Thyroid dyshormonogenesis 5 (TDH5) [MIM:274900]
rs4774518 Pathogenic 45,117,274(+) CAGTA(C/G/T)GGCGC downstream-variant-500B, reference, synonymous-codon
rs201506037 Likely pathogenic 45,115,858(+) GTGGG(C/T)GAGTG upstream-variant-2KB, splice-donor-variant
rs112353868 Likely benign 45,114,000(+) GTTCA(C/G)ATGTC upstream-variant-2KB, utr-variant-5-prime
rs138005153 Uncertain significance 45,113,327(+) TAGAG(A/G/T)AGCCT intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2760029 CNV gain+loss 17122850
nsv569312 CNV loss 21841781
nsv7264 OTHER inversion 18451855

Variation tolerance for DUOXA2 Gene

Residual Variation Intolerance Score: 52.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.47; 28.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DUOXA2 Gene

Human Gene Mutation Database (HGMD)
DUOXA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DUOXA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DUOXA2 Gene

Disorders for DUOXA2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DUOXA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
thyroid dyshormonogenesis 5
  • tdh5
familial thyroid dyshormonogenesis
  • thyroid dyshormonogenesis
congenital hypothyroidism, duoxa2-related
  • thyroid dyshormonogenesis 5
dyshormonogenic goiter
goiter
  • goitre
- elite association - COSMIC cancer census association via MalaCards

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, ECO:0000269 PubMed:25675383}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DUOXA2

Human Genome Epidemiology (HuGE) Navigator
DUOXA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DUOXA2
genes like me logo Genes that share disorders with DUOXA2: view

No data available for Genatlas for DUOXA2 Gene

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 64
  2. A Novel Missense Mutation (I26M) in DUOXA2 Causing Congenital Goiter Hypothyroidism Impairs NADPH Oxidase Activity but Not Protein Expression. (PMID: 25675383) Liu S. … Yan S. (J. Clin. Endocrinol. Metab. 2015) 3 4 64
  3. 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 64
  4. Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism. (PMID: 27349010) Yang L.X. … Zheng X. (Clin. Lab. 2016) 3 64
  5. When an Intramolecular Disulfide Bridge Governs the Interaction of DUOX2 with Its Partner DUOXA2. (PMID: 25761904) CarrAc A. … Dupuy C. (Antioxid. Redox Signal. 2015) 3 64

Products for DUOXA2 Gene

Sources for DUOXA2 Gene

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