1. Gene
  2. PXDN - peroxidasin Gene

PXDN - peroxidasin Gene

Homo sapiens

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

Gene ID: 7837 | Gene type: protein coding

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

PXDN Protein Structure

LRR_8

LRR_8: Leucine rich repeat (86 - 146)

I-set

I-set: Immunoglobulin I-set domain (246 - 328)

I-set

I-set: Immunoglobulin I-set domain (342 - 429)

I-set

I-set: Immunoglobulin I-set domain (433 - 519)

I-set

I-set: Immunoglobulin I-set domain (525 - 611)

An_peroxidase

An_peroxidase: Animal haem peroxidase (741 - 1289)

VWC

VWC: von Willebrand factor type C domain (1418 - 1470)

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  • 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

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