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DUOXA2 dual oxidase maturation factor 2 [ Homo sapiens (human) ]

Gene ID: 405753, updated on 18-Nov-2018

Summary

Official Symbol
DUOXA2provided by HGNC
Official Full Name
dual oxidase maturation factor 2provided by HGNC
Primary source
HGNC:HGNC:32698
See related
Ensembl:ENSG00000140274 MIM:612772; Vega:OTTHUMG00000131354
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TDH5; SIMNIPHOM
Summary
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]
Expression
Biased expression in gall bladder (RPKM 85.0), urinary bladder (RPKM 21.8) and 5 other tissues See more
Orthologs

Genomic context

See DUOXA2 in Genome Data Viewer
Location:
15q21.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (45114321..45118106)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45406523..45410304)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene sorbitol dehydrogenase Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene Neighboring gene dual oxidase 2 Neighboring gene dual oxidase maturation factor 1 Neighboring gene dual oxidase 1 Neighboring gene Src homology 2 domain containing F Neighboring gene transfer RNA-His (GTG) 1-7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Thyroid hormone synthesis, organism-specific biosystem (from KEGG)
    Thyroid hormone synthesis, organism-specific biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
  • Thyroid hormone synthesis, conserved biosystem (from KEGG)
    Thyroid hormone synthesis, conserved biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular protein localization IGI
Inferred from Genetic Interaction
more info
PubMed 
hydrogen peroxide metabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell motility IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of hydrogen peroxide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of hydrogen peroxide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization IGI
Inferred from Genetic Interaction
more info
PubMed 
protein maturation IGI
Inferred from Genetic Interaction
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
regulation of thyroid hormone generation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical part of cell IDA
Inferred from Direct Assay
more info
PubMed 
cell leading edge IGI
Inferred from Genetic Interaction
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IGI
Inferred from Genetic Interaction
more info
PubMed 

General protein information

Preferred Names
dual oxidase maturation factor 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016992.1 RefSeqGene

    Range
    5001..8782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_207581.3NP_997464.2  dual oxidase maturation factor 2

    See identical proteins and their annotated locations for NP_997464.2

    Status: REVIEWED

    Source sequence(s)
    BC137465, BM987789, DC393748
    Consensus CDS
    CCDS10118.2
    UniProtKB/Swiss-Prot
    Q1HG44
    Related
    ENSP00000319705.5, OTTHUMP00000162043, ENST00000323030.5, OTTHUMT00000254142
    Conserved Domains (1) summary
    pfam10204
    Location:11282
    DuoxA; Dual oxidase maturation factor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    45114321..45118106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022180.1XP_016877669.1  dual oxidase maturation factor 2 isoform X1

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