PXDN peroxidasin [Homo sapiens (human)] - Gene

Summary

Official Symbol: PXDNprovided by HGNC
Official Full Name: peroxidasinprovided by HGNC
Primary source: HGNC:HGNC:14966
See related: Ensembl:ENSG00000130508 MIM:605158; AllianceGenome:HGNC:14966
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: PXN; VPO; MG50; PRG2; ASGD7; COPOA; D2S448; D2S448E; hsPxd01
Summary: 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]
Expression: Broad expression in fat (RPKM 35.5), endometrium (RPKM 27.3) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p25.3

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (1631887..1744901, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (1639438..1752655, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (1635659..1748287, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNA Methylation of PXDN Is Associated with Early-Life Adversity in Adult Mental Disorders.
Title: DNA Methylation of PXDN Is Associated with Early-Life Adversity in Adult Mental Disorders.
The role of peroxidasin in solid cancer progression.
Title: The role of peroxidasin in solid cancer progression.
Peroxidasin Deficiency Re-programs Macrophages Toward Pro-fibrolysis Function and Promotes Collagen Resolution in Liver.
Title: Peroxidasin Deficiency Re-programs Macrophages Toward Pro-fibrolysis Function and Promotes Collagen Resolution in Liver.
Differential DNA methylation analysis of SUMF2, ADAMTS5, and PXDN provides novel insights into colorectal cancer prognosis prediction in Taiwan.
Title: Differential DNA methylation analysis of SUMF2, ADAMTS5, and PXDN provides novel insights into colorectal cancer prognosis prediction in Taiwan.
Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins.
Title: Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins.
PXDN reduces autophagic flux in insulin-resistant cardiomyocytes via modulating FoxO1.
Title: PXDN reduces autophagic flux in insulin-resistant cardiomyocytes via modulating FoxO1.
Vascular peroxidase 1 is independently associated with worse kidney function in patients with peripheral artery disease.
Title: Vascular peroxidase 1 is independently associated with worse kidney function in patients with peripheral artery disease.
Peroxidan Plays a Tumor-Promoting Role in Oral Squamous Cell Carcinoma.
Title: Peroxidan Plays a Tumor-Promoting Role in Oral Squamous Cell Carcinoma.
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
Title: Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
The leucine-rich repeat domain of human peroxidasin 1 promotes binding to laminin in basement membranes.
Title: The leucine-rich repeat domain of human peroxidasin 1 promotes binding to laminin in basement membranes.

Submit: New GeneRIF Correction See all GeneRIFs (39)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Anterior segment dysgenesis 7 MedGen: C3151617 OMIM: 269400 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH25436 (e-PCR)
- UniSTS:39985

RH91469 (e-PCR)
- UniSTS:89920

G20812 (e-PCR)
- UniSTS:7076

A006H28 (e-PCR)
- UniSTS:7077

RH46363 (e-PCR)
- UniSTS:49339

RH70454 (e-PCR)
- UniSTS:60092

STS-W70089 (e-PCR)
- UniSTS:55261

RH16626 (e-PCR)
- UniSTS:17123

G44731 (e-PCR)
- UniSTS:95206

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables heme binding	IDA Inferred from Direct Assay more info	PubMed
enables interleukin-1 receptor antagonist activity	NAS Non-traceable Author Statement more info	PubMed
enables lactoperoxidase activity	IEA Inferred from Electronic Annotation more info
enables laminin-1 binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on peroxide as acceptor	IDA Inferred from Direct Assay more info	PubMed
enables oxidoreductase activity, acting on peroxide as acceptor	IMP Inferred from Mutant Phenotype more info	PubMed
enables peroxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peroxidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of basement membrane assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in basement membrane assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in basement membrane assembly	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in basement membrane organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extracellular matrix organization	IDA Inferred from Direct Assay more info	PubMed
involved_in eye development	IEA Inferred from Electronic Annotation more info
involved_in hydrogen peroxide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of cytokine-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homotrimerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homotrimerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basement membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: peroxidasin homolog

Names: melanoma-associated antigen MG50; p53-responsive gene 2 protein; peroxidasin 1; vascular peroxidase 1

NP_036425.1

EC 1.11.1.7

XP_005264764.1

EC 1.11.1.7

XP_011508698.1

EC 1.11.1.7

XP_047301744.1

EC 1.11.1.7

XP_047301745.1

EC 1.11.1.7

XP_054199794.1

EC 1.11.1.7

XP_054199795.1

EC 1.11.1.7

XP_054199796.1

EC 1.11.1.7

NCBI Reference Sequences (RefSeq)

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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

NG_034221.1 RefSeqGene

Range

5033..117661

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_012293.3 → NP_036425.1 peroxidasin homolog precursor

See identical proteins and their annotated locations for NP_036425.1

Status: REVIEWED

Source sequence(s)

AK098167, BC030834, BC070119, BG706125, BX348948, DA551404, DA866300, EF090903

Consensus CDS

CCDS46221.1

UniProtKB/Swiss-Prot

A8QM65, D6W4Y0, Q4KMG2, Q92626

Related

ENSP00000252804.4, ENST00000252804.9

Conserved Domains (12) summary

cd05745
Location:446 → 519

Ig3_Peroxidasin; Third immunoglobulin (Ig)-like domain of peroxidasin

cd05746
Location:542 → 610

Ig4_Peroxidasin; Fourth immunoglobulin (Ig)-like domain of peroxidasin

cd09826
Location:864 → 1303

peroxidasin_like; Animal heme peroxidase domain of peroxidasin and related proteins

smart00214
Location:1415 → 1470

VWC; von Willebrand factor (vWF) type C domain

pfam07679
Location:433 → 519

I-set; Immunoglobulin I-set domain

sd00031
Location:112 → 135

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:66 → 87

LRR_RI; leucine-rich repeat [structural motif]

pfam03098
Location:741 → 1282

An_peroxidase; Animal haem peroxidase

pfam12799
Location:110 → 151

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:111 → 170

LRR_8; Leucine rich repeat

cl11960
Location:246 → 333

Ig; Immunoglobulin domain

cl15307
Location:192 → 243

TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

1631887..1744901 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011510396.2 → XP_011508698.1 peroxidasin homolog isoform X2

See identical proteins and their annotated locations for XP_011508698.1

Conserved Domains (8) summary

cd05745
Location:263 → 336

Ig3_Peroxidasin; Third immunoglobulin (Ig)-like domain of peroxidasin

cd05746
Location:359 → 427

Ig4_Peroxidasin; Fourth immunoglobulin (Ig)-like domain of peroxidasin

cd09826
Location:681 → 1120

peroxidasin_like; Animal heme peroxidase domain of peroxidasin and related proteins

smart00214
Location:1232 → 1287

VWC; von Willebrand factor (vWF) type C domain

pfam07679
Location:250 → 336

I-set; Immunoglobulin I-set domain

pfam03098
Location:558 → 1099

An_peroxidase; Animal haem peroxidase

cl11960
Location:63 → 150

Ig; Immunoglobulin domain

cl15307
Location:9 → 60

TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
XM_047445789.1 → XP_047301745.1 peroxidasin homolog isoform X2
XM_005264707.4 → XP_005264764.1 peroxidasin homolog isoform X1

Conserved Domains (11) summary

cd05745
Location:422 → 495

Ig3_Peroxidasin; Third immunoglobulin (Ig)-like domain of peroxidasin

cd05746
Location:518 → 586

Ig4_Peroxidasin; Fourth immunoglobulin (Ig)-like domain of peroxidasin

cd09826
Location:840 → 1279

peroxidasin_like; Animal heme peroxidase domain of peroxidasin and related proteins

smart00214
Location:1391 → 1446

VWC; von Willebrand factor (vWF) type C domain

pfam07679
Location:409 → 495

I-set; Immunoglobulin I-set domain

sd00031
Location:64 → 78

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:45 → 63

LRR_RI; leucine-rich repeat [structural motif]

pfam03098
Location:717 → 1258

An_peroxidase; Animal haem peroxidase

pfam12799
Location:110 → 151

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:111 → 168

LRR_8; Leucine rich repeat

cl11960
Location:222 → 309

Ig; Immunoglobulin domain
XM_047445788.1 → XP_047301744.1 peroxidasin homolog isoform X2