Seroatlas · Human Serome Atlas

DUOXA2

Dual oxidase maturation factor 2

Also known as: DOXA2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q1HG44
Gene
DUOXA2
Ensembl
ENSG00000140274
Chromosome
15
Canonical length
320 aa
Protein class
Disease related genes, Human disease related genes, Predicted membrane proteins

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

320 residues, UniProt reviewed canonical sequence.

>Q1HG44|DUOXA2
     1  MTLWNGVLPF YPQPRHAAGF SVPLLIVILV FLALAASFLL ILPGIRGHSR WFWLVRVLLS
    61  LFIGAEIVAV HFSAEWFVGT VNTNTSYKAF SAARVTARVR LLVGLEGINI TLTGTPVHQL
   121  NETIDYNEQF TWRLKENYAA EYANALEKGL PDPVLYLAEK FTPSSPCGLY HQYHLAGHYA
   181  SATLWVAFCF WLLSNVLLST PAPLYGGLAL LTTGAFALFG VFALASISSV PLCPLRLGSS
   241  ALTTQYGAAF WVTLATGVLC LFLGGAVVSL QYVRPSALRT LLDQSAKDCS QERGGSPLIL
   301  GDPLHKQAAL PDLKCITTNL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DUOXA2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
5
Mean surface accessibility (rSASA)
0.35
Highest tissue expression
60 nTPM

Expression across tissuesHPA

Tissue

  • gallbladder: 60 nTPM
  • urinary bladder: 39 nTPM
  • stomach: 15 nTPM
  • thyroid gland: 11 nTPM
  • vagina: 9.3 nTPM
  • appendix: 5.6 nTPM

Single-cell type

  • foveolar cells: 403 nCPM
  • salivary duct cells: 249 nCPM
  • conjunctival goblet cells: 248 nCPM
  • pancreatic duct cells: 132 nCPM
  • pancreatic acinar cells: 78 nCPM
  • urothelial cells: 57 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • pons: 0.1 nTPM
  • amygdala: 0 nTPM
  • basal ganglia: 0 nTPM
  • cerebellum: 0 nTPM
  • cerebral cortex: 0 nTPM
  • choroid plexus: 0 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DUOXA2.

Disease | AllUniProt

Conditions DUOXA2 is implicated in, by any mechanism.

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 117 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.92
gnomAD pLI
0
gnomAD missense Z
-1.05
DepMap mean gene effect
-0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DUOXA2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DUOXA2 as an antibody target. Whether an autoantibody or antibody against DUOXA2 could matter depends on whether native DUOXA2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DUOXA2 is annotated at the cell surface, where native DUOXA2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label DUOXA2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DUOXA2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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