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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PYROXD2
pyridine nucleotide-disulphide oxidoreductase domain 2
Chromosome 10 · 10q24.2
NCBI Gene: 84795Ensembl: ENSG00000119943.14HGNC: HGNC:23517UniProt: Q8N2H3
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrion organizationmitochondrionmitochondrial matrixbone neoplasmconnective tissue neoplasmhypertrophic cardiomyopathybenign prostatic hyperplasia
✦AI Summary

PYROXD2 is a mitochondrial oxidoreductase localized to the inner membrane/matrix that plays a critical regulatory role in mitochondrial function and cellular metabolism. The protein is imported via the Tom40 and Tim23 translocase complex and interacts with respiratory complex IV subunit COX5B 1. PYROXD2 regulates multiple aspects of mitochondrial homeostasis: knockout studies demonstrate it controls mitochondrial membrane potential, ATP production, mtDNA copy number, and complex IV activity while suppressing mitochondrial ROS and immature mitochondria accumulation 1. Biallelic PYROXD2 variants cause severe mitochondrial dysfunction characterized by heightened metabolic stress sensitivity, increased superoxide production, and reduced respiratory chain complex I and ribosomal subunit levels, manifesting as childhood mitochondrial disease with Leigh syndrome-like features 2. PYROXD2 expression is transcriptionally regulated by the myeloid zinc finger 1 (MZF1) transcription factor binding to its promoter 3. Clinically, PYROXD2 is downregulated in hepatocellular carcinoma and serves as a prognostic biomarker in esophageal squamous cell carcinoma when included in multi-gene signatures predicting patient survival 4. Genome-wide metabolomic studies confirm PYROXD2 as a genetic determinant of plasma methyl lysine and other metabolite levels 56. Together, these findings establish PYROXD2 as essential for mitochondrial bioenergetics and redox homeostasis with important implications for both cancer and mitochondrial disease.

Sources cited
1
PYROXD2 localizes to mitochondrial inner membrane/matrix via Tom40/Tim23, interacts with COX5B, and regulates mitochondrial membrane potential, ATP content, complex IV activity, mtDNA copy number, and ROS levels
PMID: 31170524
2
Biallelic PYROXD2 variants cause mitochondrial dysfunction with increased superoxide, decreased respiratory complex I subunits and ribosomal subunits, presenting as childhood mitochondrial disease
PMID: 35055180
3
MZF1 transcription factor regulates PYROXD2 gene transcription by binding to TGGGGA cis-element in the promoter region
PMID: 29048625
4
PYROXD2 is a prognostic biomarker in esophageal squamous cell carcinoma, with knockdown decreasing cell proliferation and migration
PMID: 31815134
5
PYROXD2 is a genetic determinant of plasma methyl lysine levels in pediatric populations
PMID: 36482414
6
PYROXD2 variants associate with blood metabolite levels in trans-ethnic GWAS of chronic kidney disease patients
PMID: 35120996
7
PYROXD2 expression is upregulated in cardiac tissue with Prdm16 mutation, indicating involvement in cardiac metabolic regulation
PMID: 37842925
Disease Associationsⓘ20
bone neoplasmOpen Targets
0.32Weak
connective tissue neoplasmOpen Targets
0.32Weak
hypertrophic cardiomyopathyOpen Targets
0.31Weak
benign prostatic hyperplasiaOpen Targets
0.17Weak
Leigh syndromeOpen Targets
0.12Weak
esophageal cancerOpen Targets
0.10Suggestive
male reproductive system diseaseOpen Targets
0.10Suggestive
pyogenic granulomaOpen Targets
0.09Suggestive
renal cell carcinomaOpen Targets
0.07Suggestive
pulmonary vascular congestionOpen Targets
0.06Suggestive
Abruptio PlacentaeOpen Targets
0.06Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
ureterolithiasisOpen Targets
0.04Suggestive
facial morphologyOpen Targets
0.04Suggestive
asthmaOpen Targets
0.03Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
retinal degenerationOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GABPB1Shared pathway100%ATAD3BShared pathway100%ATAD3CShared pathway100%FDFT1Protein interaction86%WDR97Protein interaction84%NDUFAF6Protein interaction83%
Tissue Expression6 tissues
Ovary
100%
Liver
87%
Heart
65%
Bone Marrow
55%
Lung
44%
Brain
12%
Gene Interaction Network
Click a node to explore
PYROXD2GABPB1ATAD3BATAD3CFDFT1WDR97NDUFAF6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N2H3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.93 [0.76–1.15]
RankingsWhere PYROXD2 stands among ~20K protein-coding genes
  • #13,720of 20,598
    Most Researched22
  • #11,905of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedPYROXD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2): Role in mitochondrial function.
PMID: 31170524
Mitochondrion · 2019
1.00
2
Integrative DNA methylation and gene expression analysis in high-grade soft tissue sarcomas.
PMID: 24345474
Genome Biol · 2013
0.90
3
A Novel Clinical Six-Flavoprotein-Gene Signature Predicts Prognosis in Esophageal Squamous Cell Carcinoma.
PMID: 31815134
Biomed Res Int · 2019
0.80
4
Myeloid zinc finger 1 protein is a key transcription stimulating factor of PYROXD2 promoter.
PMID: 29048625
Oncol Rep · 2017
0.70
5
Biallelic Variants in
PMID: 35055180
Int J Mol Sci · 2022
0.60