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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PXDNL
peroxidasin like
Chromosome 8 · 8q11.22-q11.23
NCBI Gene: 137902Ensembl: ENSG00000147485.14HGNC: HGNC:26359UniProt: A1KZ92
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolheme bindingperoxidase activityhydrogen peroxide catabolic processsmoking initiationpernicious anemiaadolescent idiopathic scoliosisnicotine dependence
✦AI Summary

PXDNL (peroxidasin-like) is a cardiac-enriched protein that has evolutionarily lost peroxidase enzymatic activity while retaining structural homology to peroxidasin 1. In the heart, PXDNL localizes to cardiomyocyte cell-cell junctions and antagonizes PXDN-mediated peroxidase function, which regulates extracellular matrix (ECM) collagen cross-linking 1. Elevated PXDNL expression in failing myocardium suggests a role in pathological ECM remodeling 1. Beyond cardiac tissue, PXDNL exhibits oncogenic properties in multiple cancers. In breast cancer, high PXDNL expression independently predicts poor overall and relapse-free survival 2. Similarly, in urothelial bladder carcinoma, PXDNL promotes cell motility through the Wnt/β-catenin pathway and epithelial-to-mesenchymal transition (EMT), serving as an independent prognostic factor 3. PXDNL functions as a risk factor in TME-related prognostic signatures, correlating with immunosuppressive microenvironments and reduced immunotherapy response 45. Genetically, PXDNL variants associate with complex diseases: a gastroparesis risk allele correlates with increased abdominal pain severity and gastric muscularis PXDNL expression 6, while plasma PXDNL shows causal associations with cluster headache and interacts with both acute and preventive drug targets 7. Human knockouts reveal PXDNL loss-of-function phenotypes distinct from GWAS-associated traits 8.

Sources cited
1
PXDNL is heart-specific, has lost peroxidase activity, localizes to cell-cell junctions, forms complexes with PXDN, antagonizes its function, and is elevated in failing myocardium
PMID: 24253521
2
High PXDNL expression is highly expressed in breast cancer and independently predicts poor overall survival and relapse-free survival
PMID: 31689799
3
PXDNL is overexpressed in urothelial bladder carcinoma, promotes cell motility via Wnt/β-catenin pathway and EMT, and serves as independent prognostic factor
PMID: 36493879
4
PXDNL gastroparesis risk allele associates with increased abdominal pain severity and gastric muscularis PXDNL expression correlates with abdominal pain
PMID: 37688361
5
Plasma PXDNL shows causal association with cluster headache, has minimal side effects, and interacts with both acute and preventive CH drug targets
PMID: 40114078
6
PXDNL homozygous knockout families display phenotypes inconsistent with GWAS-associated traits
PMID: 28640246
7
PXDNL is a risk factor in TME-related prognostic signature correlating with immunosuppressive microenvironment and poor immunotherapy response in breast cancer
PMID: 36869083
8
PXDNL is part of a basement membrane-derived prognostic signature predicting breast cancer outcome and correlating with EMT activity
PMID: 37056938
Disease Associationsⓘ20
smoking initiationOpen Targets
0.40Weak
pernicious anemiaOpen Targets
0.30Weak
adolescent idiopathic scoliosisOpen Targets
0.30Weak
nicotine dependenceOpen Targets
0.29Weak
Left bundle branch blockOpen Targets
0.27Weak
appendicitisOpen Targets
0.26Weak
goutOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.25Weak
atrial heart septal defectOpen Targets
0.25Weak
disorder of appendixOpen Targets
0.25Weak
frozen shoulderOpen Targets
0.24Weak
response to xenobiotic stimulusOpen Targets
0.24Weak
liver diseaseOpen Targets
0.24Weak
Paralytic ileusOpen Targets
0.23Weak
kidney diseaseOpen Targets
0.16Weak
cutaneous lupus erythematosusOpen Targets
0.16Weak
diabetic ketoacidosisOpen Targets
0.16Weak
ocular hypotensionOpen Targets
0.16Weak
facial painOpen Targets
0.14Weak
primary angle closure glaucomaOpen Targets
0.14Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IFNGProtein interaction99%CELProtein interaction98%GAPDHProtein interaction98%LMNB1Protein interaction98%XDHProtein interaction98%EIF2AK3Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Lung
0%
Ovary
0%
Brain
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PXDNLIFNGCELGAPDHLMNB1XDHEIF2AK3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A1KZ92
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.13LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.81–1.13]
RankingsWhere PXDNL stands among ~20K protein-coding genes
  • #13,285of 20,598
    Most Researched24
  • #11,724of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedPXDNL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Peroxidasin-like protein: a novel peroxidase homologue in the human heart.
PMID: 24253521
Cardiovasc Res · 2014
1.00
2
A pilot genome-wide association study meta-analysis of gastroparesis.
PMID: 37688361
United European Gastroenterol J · 2023
0.90
3
Uncovering drug targets for cluster headache through proteome-wide Mendelian randomization analysis.
PMID: 40114078
J Headache Pain · 2025
0.80
4
High peroxidasin-like expression is a potential and independent prognostic biomarker in breast cancer.
PMID: 31689799
Medicine (Baltimore) · 2019
0.70
5
PXDNL activates the motility of urothelial bladder carcinoma cells through the Wnt/β-catenin pathway and has a prognostic value.
PMID: 36493879
Life Sci · 2023
0.60