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Aliases for PXDN Gene

Aliases for PXDN Gene

  • Peroxidasin 2 3 5
  • Melanoma-Associated Antigen MG50 3 4
  • P53-Responsive Gene 2 Protein 3 4
  • Vascular Peroxidase 1 3 4
  • EC 1.11.1.7 4 63
  • PRG2 3 4
  • MG50 3 4
  • VPO 3 4
  • Peroxidasin Homolog (Drosophila) 2
  • EC 1.11.1 63
  • KIAA0230 4
  • D2S448E 3
  • D2S448 3
  • COPOA 3
  • VPO1 4
  • PXN 3

External Ids for PXDN Gene

Previous GeneCards Identifiers for PXDN Gene

  • GC02M001606

Summaries for PXDN Gene

Entrez Gene Summary for PXDN Gene

  • 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]

GeneCards Summary for PXDN Gene

PXDN (Peroxidasin) is a Protein Coding gene. Diseases associated with PXDN include Corneal Opacification And Other Ocular Anomalies and Congenital Cataract Microcornea With Corneal Opacity. GO annotations related to this gene include heme binding and peroxidase activity. An important paralog of this gene is EPX.

UniProtKB/Swiss-Prot for PXDN Gene

  • Displays low peroxidase activity and is likely to participate in H(2)O(2) metabolism and peroxidative reactions in the cardiovascular system. Plays a role in extracellular matrix formation.

Gene Wiki entry for PXDN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PXDN Gene

Genomics for PXDN Gene

Regulatory Elements for PXDN Gene

Enhancers for PXDN Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PXDN on UCSC Golden Path with GeneCards custom track

Promoters for PXDN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PXDN on UCSC Golden Path with GeneCards custom track

Genomic Location for PXDN Gene

Chromosome:
2
Start:
1,631,887 bp from pter
End:
1,744,852 bp from pter
Size:
112,966 bases
Orientation:
Minus strand

Genomic View for PXDN Gene

Genes around PXDN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PXDN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PXDN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PXDN Gene

Proteins for PXDN Gene

  • Protein details for PXDN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92626-PXDN_HUMAN
    Recommended name:
    Peroxidasin homolog
    Protein Accession:
    Q92626
    Secondary Accessions:
    • A8QM65
    • D6W4Y0
    • Q4KMG2

    Protein attributes for PXDN Gene

    Size:
    1479 amino acids
    Molecular mass:
    165275 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=heme b; Xref=ChEBI:CHEBI:60344;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF06354.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA13219.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PXDN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PXDN Gene

Proteomics data for PXDN Gene at MOPED

Post-translational modifications for PXDN Gene

  • Glycosylation at Asn 640, Asn 699, Asn 719, Asn 731, Asn 865, Asn 1178, Asn 1280, Asn 1368, and Asn 1425
  • Modification sites at PhosphoSitePlus

Other Protein References for PXDN Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for PXDN

Domains & Families for PXDN Gene

Gene Families for PXDN Gene

Suggested Antigen Peptide Sequences for PXDN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92626

UniProtKB/Swiss-Prot:

PXDN_HUMAN :
  • Contains 4 Ig-like C2-type (immunoglobulin-like) domains.
  • Belongs to the peroxidase family. XPO subfamily.
  • Contains 4 LRR (leucine-rich) repeats.
Domain:
  • Contains 4 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 LRRCT domain.
  • Contains 1 LRRNT domain.
  • Contains 1 VWFC domain.
Family:
  • Belongs to the peroxidase family. XPO subfamily.
Similarity:
  • Contains 4 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with PXDN: view

Function for PXDN Gene

Molecular function for PXDN Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.15 mM for H(2)O(2) {ECO:0000269 PubMed:18929642};
UniProtKB/Swiss-Prot CatalyticActivity:
2 phenolic donor + H(2)O(2) = 2 phenoxyl radical of the donor + 2 H(2)O.
UniProtKB/Swiss-Prot Function:
Displays low peroxidase activity and is likely to participate in H(2)O(2) metabolism and peroxidative reactions in the cardiovascular system. Plays a role in extracellular matrix formation.
UniProtKB/Swiss-Prot Induction:
By TGFB1 in fibroblasts and up-regulated in apoptotic cells.

Enzyme Numbers (IUBMB) for PXDN Gene

genes like me logo Genes that share phenotypes with PXDN: view

Human Phenotype Ontology for PXDN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PXDN

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for PXDN Gene

Localization for PXDN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PXDN Gene

Secreted, extracellular space, extracellular matrix. Note=Enriched in the peritubular space of fibrotic kidneys.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PXDN Gene COMPARTMENTS Subcellular localization image for PXDN gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
plasma membrane 3
golgi apparatus 1
lysosome 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PXDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 19590037
genes like me logo Genes that share ontologies with PXDN: view

Pathways & Interactions for PXDN Gene

SuperPathways for PXDN Gene

No Data Available

Interacting Proteins for PXDN Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000252804%0d%0a9606.ENSP00000260983%0d%0a9606.ENSP00000357927%0d%0a
Selected Interacting proteins: ENSP00000252804 Q92626-PXDN_HUMAN for PXDN Gene via STRING I2D

Gene Ontology (GO) - Biological Process for PXDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response NAS 11103812
GO:0006979 response to oxidative stress IEA --
GO:0030198 extracellular matrix organization IEA,IDA 19590037
genes like me logo Genes that share ontologies with PXDN: view

No data available for Pathways by source and SIGNOR curated interactions for PXDN Gene

Drugs & Compounds for PXDN Gene

(3) Drugs for PXDN Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
Hydrogen peroxide Pharma 47
calcium Nutra 0

(2) Additional Compounds for PXDN Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with PXDN: view

Transcripts for PXDN Gene

Unigene Clusters for PXDN Gene

Peroxidasin homolog (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PXDN Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a ·
SP1: - - - - - -
SP2: - - - - - -
SP3: - -
SP4: - - - - -
SP5: - -
SP6:
SP7: - -
SP8:
SP9: -
SP10:
SP11:
SP12:

ExUns: 20b ^ 21a · 21b ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b · 29c
SP1: - - - -
SP2: -
SP3: - - - - - - -
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12: -

Relevant External Links for PXDN Gene

GeneLoc Exon Structure for
PXDN
ECgene alternative splicing isoforms for
PXDN

Expression for PXDN Gene

mRNA expression in normal human tissues for PXDN Gene

Protein differential expression in normal tissues from HIPED for PXDN Gene

This gene is overexpressed in Amniocyte (49.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PXDN Gene



SOURCE GeneReport for Unigene cluster for PXDN Gene Hs.332197

mRNA Expression by UniProt/SwissProt for PXDN Gene

Q92626-PXDN_HUMAN
Tissue specificity: Expressed at higher levels in heart, lung, ovary, spleen, intestine and placenta, and at lower levels in liver, colon, pancreas, kidney, thymus, skeletal muscle and prostate. Expressed in tumors such as melanoma, breast cancer, ovarian cancer and glioblastoma. A shorter form probably lacking the signal sequence is found in testis and in EB1 cells undergoing p53/TP53-dependent apoptosis.
genes like me logo Genes that share expression patterns with PXDN: view

Protein tissue co-expression partners for PXDN Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for PXDN Gene

Orthologs for PXDN Gene

This gene was present in the common ancestor of animals.

Orthologs for PXDN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PXDN 35
  • 83.61 (n)
  • 88.06 (a)
dog
(Canis familiaris)
Mammalia PXDN 35
  • 83.93 (n)
  • 87.54 (a)
PXDN 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pxdn 35
  • 84.36 (n)
  • 91.3 (a)
Pxdn 16
Pxdn 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PXDN 35
  • 99.54 (n)
  • 99.77 (a)
PXDN 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pxdn 35
  • 84.36 (n)
  • 91.3 (a)
oppossum
(Monodelphis domestica)
Mammalia PXDN 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PXDN 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PXDN 35
  • 74.16 (n)
  • 85.26 (a)
PXDN 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PXDN 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pxdn 35
  • 70.1 (n)
  • 80.94 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta HPX4 35
  • 52.29 (n)
  • 45.08 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pxn 35
  • 53.43 (n)
  • 44.76 (a)
Pxn 36
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pxn-1 35
  • 49.51 (n)
  • 45.94 (a)
pxn-1 36
  • 38 (a)
ManyToMany
pxn-2 36
  • 37 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToMany
Species with no ortholog for PXDN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for PXDN Gene

ENSEMBL:
Gene Tree for PXDN (if available)
TreeFam:
Gene Tree for PXDN (if available)

Paralogs for PXDN Gene

Paralogs for PXDN Gene

genes like me logo Genes that share paralogs with PXDN: view

Variants for PXDN Gene

Sequence variations from dbSNP and Humsavar for PXDN Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs6723697 -, - 1,648,187(-) GATCC(A/G)GGAGA reference, missense
VAR_071389 Corneal opacification with other ocular anomalies (COPOA)
rs736868 -- 1,744,657(+) CGGCC(C/T)GAGCG intron-variant, upstream-variant-2KB
rs736869 -- 1,744,691(+) GCATG(A/G)CCAAG intron-variant, upstream-variant-2KB
rs736870 -- 1,744,930(+) TCTCC(C/T)TCTCC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PXDN Gene

Variant ID Type Subtype PubMed ID
dgv4040n71 CNV Loss 21882294
nsv873564 CNV Gain 21882294
nsv873566 CNV Gain 21882294
nsv873567 CNV Loss 21882294
nsv521199 CNV Loss 19592680
dgv4041n71 CNV Loss 21882294
esv1243391 CNV Insertion 17803354
esv2665854 CNV Deletion 23128226
esv2270555 CNV Deletion 18987734
esv2719343 CNV Deletion 23290073
esv2719344 CNV Deletion 23290073
esv2719345 CNV Deletion 23290073
esv2719346 CNV Deletion 23290073
esv2719347 CNV Deletion 23290073
nsv215054 CNV Loss 16902084
esv1009579 CNV Deletion 20482838
esv2719348 CNV Deletion 23290073
esv1343489 CNV Deletion 17803354
esv2719349 CNV Deletion 23290073
esv2719351 CNV Deletion 23290073
dgv606n67 CNV Gain 20364138
nsv828064 CNV Gain 20364138
esv2719352 CNV Deletion 23290073
esv2743353 CNV Deletion 23290073
esv2678591 CNV Deletion 23128226
nsv828075 CNV Gain 20364138
esv989069 CNV Insertion 20482838
esv1443452 CNV Deletion 17803354
esv1407173 CNV Insertion 17803354
nsv873570 CNV Loss 21882294
esv2544823 CNV Deletion 19546169
esv2668758 CNV Deletion 23128226
esv2045423 CNV Deletion 18987734
esv2670619 CNV Deletion 23128226
esv28170 CNV Gain+Loss 19812545
nsv821306 CNV Deletion 20802225
esv2719353 CNV Deletion 23290073
esv26558 CNV Loss 19812545
esv2719354 CNV Deletion 23290073
esv1653800 CNV Deletion 17803354
esv1629001 CNV Insertion 17803354
dgv612e201 CNV Deletion 23290073
esv1278021 CNV Insertion 17803354
dgv613e201 CNV Deletion 23290073
esv2719357 CNV Deletion 23290073
esv2719358 CNV Deletion 23290073
esv2719359 CNV Deletion 23290073
esv2719360 CNV Deletion 23290073
esv2719363 CNV Deletion 23290073
esv2719364 CNV Deletion 23290073
esv2668630 CNV Deletion 23128226
esv2719365 CNV Deletion 23290073
esv23941 CNV Loss 19812545
esv2719366 CNV Deletion 23290073
esv2719367 CNV Deletion 23290073
dgv614e201 CNV Deletion 23290073
esv2719369 CNV Deletion 23290073
esv2719371 CNV Deletion 23290073
esv1002606 CNV Deletion 20482838
esv1273929 CNV Deletion 17803354
nsv828086 CNV Gain 20364138
nsv828097 CNV Gain 20364138

Variation tolerance for PXDN Gene

Residual Variation Intolerance Score: 4.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.70; 66.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PXDN Gene

Human Gene Mutation Database (HGMD)
PXDN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PXDN Gene

Disorders for PXDN Gene

MalaCards: The human disease database

(4) MalaCards diseases for PXDN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
corneal opacification and other ocular anomalies
  • sclerocornea with other ocular anomalies
congenital cataract microcornea with corneal opacity
  • ccmco
sclerocornea
  • isolated congenital sclerocornea
microphthalmia
  • microphthalmos
- elite association - COSMIC cancer census association via MalaCards
Search PXDN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PXDN_HUMAN
  • Corneal opacification with other ocular anomalies (COPOA) [MIM:269400]: An ocular disease characterized by sclerocornea associated with other ocular anomalies, such as cataract, microcornea, microphthalmia, and anterior segment dysgenesis. Sclerocornea is a primary anomaly in which scleralization of a peripheral part of the cornea, or the entire corneal tissue, occurs. In the peripheral type of sclerocornea, the affected area is vascularized with regular arcades of superficial scleral vessels. In total sclerocornea, the entire cornea is opaque and vascularized. {ECO:0000269 PubMed:21907015}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PXDN

Genetic Association Database (GAD)
PXDN
Human Genome Epidemiology (HuGE) Navigator
PXDN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PXDN
genes like me logo Genes that share disorders with PXDN: view

No data available for Genatlas for PXDN Gene

Publications for PXDN Gene

  1. Isolation of differentially expressed cDNAs from p53-dependent apoptotic cells: activation of the human homologue of the Drosophila peroxidasin gene. (PMID: 10441517) Horikoshi N. … Shenk T. (Biochem. Biophys. Res. Commun. 1999) 2 3 4 67
  2. Peroxidasin forms sulfilimine chemical bonds using hypohalous acids in tissue genesis. (PMID: 22842973) Bhave G. … Hudson B.G. (Nat. Chem. Biol. 2012) 2 3
  3. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T. … Nomura N. (DNA Res. 1996) 2 3
  4. Assignment of a human melanoma associated gene MG50 (D2S448) to chromosome 2p25.3 by fluorescence in situ hybridization. (PMID: 7959781) Weiler S.R. … Trent J.M. (Genomics 1994) 3 23
  5. Multidomain human peroxidasin 1 is a highly glycosylated and stable homotrimeric high spin ferric peroxidase. (PMID: 25713063) Soudi M. … Obinger C. (J. Biol. Chem. 2015) 3

Products for PXDN Gene

Sources for PXDN Gene

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