PXDN - peroxidasin Gene

Also Known as PXN; VPO; MG50; PRG2; ASGD7; COPOA; D2S448; D2S448E; hsPxd01

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7837

About PXDN

Cytogenetic location: 2p25.3 Genomic coordinates (GRCh38): 2:1,631,887-1,744,901 (from NCBI)

This gene has 14 transcripts (splice variants), 217 orthologues, 5 paralogues and is associated with 4 phenotypes. Broad expression in fat (RPKM 35.5), endometrium (RPKM 27.3) and 21 other tissues.

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]

PXDN Products (1)

mRNA	Protein	Name
NM_012293.3	NP_036425.1	peroxidasin homolog precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables extracellular matrix structural constituent	IDA IDA: Inferred from direct assay	19590037	GOA
enables heme binding	IDA IDA: Inferred from direct assay	18929642	GOA
enables laminin-1 binding	IDA IDA: Inferred from direct assay	32485152	GOA
enables oxidoreductase activity, acting on peroxide as acceptor	IDA IDA: Inferred from direct assay	22842973	GOA
enables oxidoreductase activity, acting on peroxide as acceptor	IMP IMP: Inferred from mutant phenotype	32571911	GOA
enables peroxidase activity	IDA IDA: Inferred from direct assay	18929642	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of angiogenesis	IMP IMP: Inferred from mutant phenotype	29982533	GOA
acts upstream of basement membrane assembly	IMP IMP: Inferred from mutant phenotype	32543734	GOA
involved in basement membrane assembly	IMP IMP: Inferred from mutant phenotype	25708780	GOA
involved in collagen fibril organization	IMP IMP: Inferred from mutant phenotype	22842973	GOA
involved in extracellular matrix organization	IDA IDA: Inferred from direct assay	19590037	GOA
involved in hydrogen peroxide catabolic process	IDA IDA: Inferred from direct assay	18929642	GOA
involved in protein homooligomerization	IDA IDA: Inferred from direct assay	25708780	GOA
involved in protein homotrimerization	IDA IDA: Inferred from direct assay	25713063	GOA
involved in protein homotrimerization	IMP IMP: Inferred from mutant phenotype	32543734	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell surface	IDA IDA: Inferred from direct assay	25708780	GOA
located in collagen-containing extracellular matrix	IDA IDA: Inferred from direct assay	19590037	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	19590037	GOA
located in extracellular matrix	IDA IDA: Inferred from direct assay	26178375	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	18929642	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PXDN Protein Structure

LRR_8

I-set

An_peroxidase

VWC

0
300
600
900
1200
1479 a.a.

Protein Preferred Names	Protein Names
peroxidasin homolog	melanoma-associated antigen MG50

Related Diseases

Diseases	Alias
Anterior Segment Dysgenesis 7	Corneal Opacification With Other Ocular Anomalies ASGD7 Copoa Sclerocornea With Other Ocular Anomalies Anterior Segment Dysgenesis 7, With Sclerocornea Congenital Cataract Microcornea With Corneal Opacity Ccmco Dysgenesis, Anterior Segment, With Sclerocornea , Type 7
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Anterior Segment Dysgenesis 1	Anterior Segment Mesenchymal Dysgenesis Anterior Segment Dysgenesis 1, Multiple Subtypes ASGD1 Asmd Anterior Segment Ocular Dysgenesis Asod Familial Ocular Anterior Segment Mesenchymal Dysgenesis Ocular Anterior Segment Dysgenesis Dysgenesis, Anterior Segment, Type 1 Axenfeld-Rieger Syndrome, Type 3 Irido-Corneal Dysgenesis
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Tinea Manuum	Tinea Manus Dermatophytosis Of Hand
Peters-Plus Syndrome	Krause-Kivlin Syndrome Peters Plus Syndrome Peters Anomaly Irido-Corneo-Trabecular Dysgenesis PTRPLS Peters Anomaly With Short-Limb Dwarfism Peters Anomaly-Short Limb Dwarfism Syndrome Peters Anomaly With Short Limb Dwarfism Peters Congenital Glaucoma Krause-Van Schooneveld-Kivlin Syndrome Peters' Plus Syndrome Peters'-Plus Syndrome Anomaly Peters
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Sclerocornea	Isolated Congenital Sclerocornea
Crisponi/Cold-Induced Sweating Syndrome 1	Crisponi Syndrome Cold-Induced Sweating Syndrome 1 CISS1 Sohar-Crisponi Syndrome Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death Muscle Contractions Tetanoform With Characteristic Face Camptodactyly Hyperthermia And Sudden Death
Goodpasture Syndrome	Anti-Glomerular Basement Membrane Disease Anti-Gbm Disease Pulmonary Renal Syndrome Anti-Glomerular Basement Membrane Antibody Disease Glomerulonephritis - Pulmonary Hemorrhage Rapidly Progressive Glomerulonephritis With Pulmonary Hemorrhage Anti-Gbm Syndrome Goodpasture'S Syndrome Anti-Basement Membrane Glomerulonephritis
Hyperoxaluria, Primary, Type Iii	Primary Hyperoxaluria Type 3 HP3 Ph Iii Primary Hyperoxaluria Type Iii Hyperoxaluria Primary 3 Hyperoxaluria Non-Hp1/Non-Hp2 Hyperoxaluria Non-Ph I/Ph Ii Form Hyperoxaluria Primary Type Iii
Primary Congenital Glaucoma
Autoimmune Disease Of Urogenital Tract
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Juvenile Glaucoma	Glaucoma Of Childhood Hydrophthalmos
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11479	PXDN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20331	Pxdn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26839	Pxdn Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PXDN	MGD	MGI:1916925
Macaca mulatta	PXDN	VGNC	VGNC:106201
Bos taurus	PXDN	VGNC	VGNC:106885
Rattus norvegicus	PXDN	RGD	RGD:1560694
Canis familiaris	PXDN	VGNC	VGNC:45217
Felis catus	PXDN	VGNC	VGNC:64446
Others	PXDN	NCBI