PXDN Gene

HGNC Family	Immunoglobulin superfamily domain containing
Name	peroxidasin
Description	This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix. It is involved in extracellular matrix formation, and may function in the physiological and pathological fibrogenic response in fibrotic kidney. Mutations in this gene cause corneal opacification and other ocular anomalies, and also microphthalmia and anterior segment dysgenesis. [provided by RefSeq, Aug 2014]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPeroxidasin (PXDN) is a multidomain, heme‐containing peroxidase secreted into the extracellular matrix (ECM) where it plays a critical role in basement membrane formation. PXDN catalyzes the hypobromous acid–mediated formation of sulfilimine bonds between collagen IV protomers, thereby reinforcing the structural integrity of basement membranes. Studies have detailed its secretion by various cells, its trimeric assembly, and the kinetic mechanism by which it oxidizes bromide to generate the reactive species needed for cross‐linking. This fundamental function underscores its pivotal role in tissue development and homeostasis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its structural role in the ECM, PXDN is essential for normal ocular development. Mutations in PXDN have been linked to a spectrum of congenital eye disorders—including anterior segment dysgenesis, cataracts, microphthalmia, and glaucoma—highlighting its dual functions as both a structural scaffold and an antioxidant enzyme within the cornea and lens. These observations from human patients and animal models indicate that proper PXDN expression is critical for maintaining basement membrane integrity and, consequently, for correct eye morphogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "10"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its developmental roles, aberrant PXDN expression has been implicated in various pathological contexts, including cancer progression and alterations in cellular oxidative stress. In certain malignancies, PXDN overexpression is associated with metabolic reprogramming (a Warburg‐like effect), enhanced tumor cell survival, and epithelial–mesenchymal transition, suggesting a tumor‐promoting function. Moreover, emerging evidence points to a regulatory role for PXDN in modulating oxidative stress responses, which may underlie its association with tissue fibrosis and even contribute to the epigenetic links between early-life adversity and neuropsychiatric disorders. These diverse functions emphasize the importance of tightly regulated PXDN activity in both normal physiology and disease."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "11", "end_ref": "15"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Zalán Péterfi, Agnes Donkó, Anna Orient, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Peroxidasin is secreted and incorporated into the extracellular matrix of myofibroblasts and fibrotic kidney."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Pathol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2353/ajpath.2009.080693"}], "href": "https://doi.org/10.2353/ajpath.2009.080693"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19590037"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19590037"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Martina Paumann-Page, Romy-Sophie Katz, Marzia Bellei, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pre-steady-state Kinetics Reveal the Substrate Specificity and Mechanism of Halide Oxidation of Truncated Human Peroxidasin 1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M117.775213"}], "href": "https://doi.org/10.1074/jbc.M117.775213"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28154175"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28154175"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jodi Dougan, Ohuod Hawsawi, Liza J Burton, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Proteomics-Metabolomics Combined Approach Identifies Peroxidasin as a Protector against Metabolic and Oxidative Stress in Prostate Cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms20123046"}], "href": "https://doi.org/10.3390/ijms20123046"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31234468"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31234468"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Martina Paumann-Page, Rupert Tscheliessnig, Benjamin Sevcnikar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Monomeric and homotrimeric solution structures of truncated human peroxidasin 1 variants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta Proteins Proteom (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbapap.2019.07.002"}], "href": "https://doi.org/10.1016/j.bbapap.2019.07.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31295557"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31295557"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Benjamin Sevcnikar, Irene Schaffner, Christine Y Chuang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The leucine-rich repeat domain of human peroxidasin 1 promotes binding to laminin in basement membranes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arch Biochem Biophys (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.abb.2020.108443"}], "href": "https://doi.org/10.1016/j.abb.2020.108443"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32485152"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32485152"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Kamron Khan, Adam Rudkin, David A Parry, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2011.08.005"}], "href": "https://doi.org/10.1016/j.ajhg.2011.08.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21907015"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21907015"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Xiaohe Yan, Sibylle Sabrautzki, Marion Horsch, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Peroxidasin is essential for eye development in the mouse."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddu274"}], "href": "https://doi.org/10.1093/hmg/ddu274"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24895407"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24895407"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Alex Choi, Richard Lao, Paul Ling-Fung Tang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2014.119"}], "href": "https://doi.org/10.1038/ejhg.2014.119"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24939590"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24939590"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Celia Zazo-Seco, Julie Plaisancié, Pierre Bitoun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s10038-020-0726-x"}], "href": "https://doi.org/10.1038/s10038-020-0726-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32015378"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32015378"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Angela Y Zhu, Gregory Costain, Cheryl Cytrynbaum, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel heterozygous variants in "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "PXDN"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " cause different anterior segment dysgenesis phenotypes in monozygotic twins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ophthalmic Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/13816810.2021.1925929"}], "href": "https://doi.org/10.1080/13816810.2021.1925929"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33985410"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33985410"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Ying-Ze Zheng, Lei Liang "}, {"type": "b", "children": [{"type": "t", "text": "High expression of PXDN is associated with poor prognosis and promotes proliferation, invasion as well as migration in ovarian cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Diagn Pathol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.anndiagpath.2018.03.002"}], "href": "https://doi.org/10.1016/j.anndiagpath.2018.03.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29661721"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29661721"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Miyako Kurihara-Shimomura, Tomonori Sasahira, Hiroyuki Shimomura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Peroxidan Plays a Tumor-Promoting Role in Oral Squamous Cell Carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms21155416"}], "href": "https://doi.org/10.3390/ijms21155416"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32751434"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32751434"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Chan Li, Zhaoya Liu, Qian Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PXDN reduces autophagic flux in insulin-resistant cardiomyocytes via modulating FoxO1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Death Dis (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41419-021-03699-4"}], "href": "https://doi.org/10.1038/s41419-021-03699-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33903591"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33903591"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Kaitlin Wyllie, Vasilios Panagopoulos, Thomas R Cox "}, {"type": "b", "children": [{"type": "t", "text": "The role of peroxidasin in solid cancer progression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Soc Trans (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BST20230018"}], "href": "https://doi.org/10.1042/BST20230018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37801286"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37801286"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Susanne Edelmann, Jeysri Balaji, Sarah Pasche, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DNA Methylation of "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "PXDN"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " Is Associated with Early-Life Adversity in Adult Mental Disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biomolecules (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/biom14080976"}], "href": "https://doi.org/10.3390/biom14080976"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "39199364"}], "href": "https://pubmed.ncbi.nlm.nih.gov/39199364"}]}]}]}
Synonyms	D2S448, PRG2, COPOA, MG50, D2S448E, VPO, ASGD7, PXN
Proteins	PXDN_HUMAN
NCBI Gene ID	7837
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PXDN has 16,524 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 119 datasets.

Click the + buttons to view associations for PXDN from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PXDN Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PXDN gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of PXDN gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of PXDN gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PXDN gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of PXDN gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PXDN gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PXDN gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PXDN gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of PXDN gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with PXDN gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with PXDN protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PXDN gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PXDN gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PXDN gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of PXDN gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with PXDN gene from the curated ClinVar Gene-Phenotype Associations dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PXDN gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PXDN protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PXDN protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing PXDN protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PXDN protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with PXDN protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PXDN gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PXDN gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with PXDN gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with PXDN gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of PXDN protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PXDN gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with PXDN gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with PXDN gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with PXDN gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with PXDN gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with PXDN gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at PXDN gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PXDN gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of PXDN gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing PXDN from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with PXDN gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of PXDN gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with PXDN gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.