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. [pro... See more...

Aliases for PXDN Gene

Aliases for PXDN Gene

  • Peroxidasin 2 3 5
  • MG50 2 3 4
  • PRG2 2 3 4
  • Melanoma-Associated Antigen MG50 3 4
  • P53-Responsive Gene 2 Protein 3 4
  • Vascular Peroxidase 1 3 4
  • Peroxidasin Homolog 3 4
  • EC 1.11.1.7 4 51
  • KIAA0230 2 4
  • D2S448E 2 3
  • D2S448 2 3
  • PXN 2 3
  • VPO 3 4
  • Peroxidasin Homolog (Drosophila) 2
  • EC 1.11.1 51
  • ASGD7 3
  • COPOA 3
  • PXDN 5
  • VPO1 4

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 Anterior Segment Dysgenesis 7 and Anterior Segment Dysgenesis. Among its related pathways are EGF/EGFR Signaling Pathway. Gene Ontology (GO) annotations related to this gene include heme binding and peroxidase activity. An important paralog of this gene is PXDNL.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PXDN Gene

Genomics for PXDN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PXDN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J001735 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 261.5 +4.2 4201 10.1 ETS1 CTCF ELF1 ZIC2 SIN3A JUND RAD21 MAFK REST TAF1 PXDN ENSG00000232057 piR-56341-096 TPO
GH02J001720 Enhancer 1 FANTOM5 ENCODE dbSUPER 21.2 +22.5 22509 3.9 NBN HES1 SP2 POLR2A ATM ZNF366 RFX1 ZBTB17 CHD2 EP300 PXDN ENSG00000228613 ENSG00000232057 piR-48209-359 HSALNG0012487 TPO
GH02J001712 Enhancer 0.9 ENCODE CraniofacialAtlas dbSUPER 22.2 +29.5 29467 5.5 RXRA RCOR1 SP1 GATA2 CHD2 TCF12 CREB1 BRCA1 NR2F2 HMBOX1 PXDN ENSG00000228613 ENSG00000232057 HSALNG0012487 piR-48209-359 TPO
GH02J001726 Enhancer 1.2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 14.7 +14.9 14918 6.6 ZIC2 CEBPB EP300 RXRA YY1 MAFK JUND ATF4 RCOR1 BHLHE40 piR-56341-096 PXDN ENSG00000232057 TPO
GH02J001790 Promoter/Enhancer 1.7 UCNEbase Ensembl ENCODE dbSUPER 9.5 -48.4 -48421 5.5 BRCA1 CEBPB ZNF513 MAX EP300 STAT3 TBP TCF7L2 USF2 MAFK PXDN ENSG00000232057 ENSG00000284600 HSALNG0012493 MYT1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PXDN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PXDN

Genomic Locations for PXDN Gene

Latest Assembly
chr2:1,631,887-1,744,852
(GRCh38/hg38)
Size:
112,966 bases
Orientation:
Minus strand

Previous Assembly
chr2:1,635,659-1,748,287
(GRCh37/hg19 by Entrez Gene)
Size:
112,629 bases
Orientation:
Minus strand

chr2:1,635,659-1,748,624
(GRCh37/hg19 by Ensembl)
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

Selected DME Specific Peptides for PXDN Gene

Q92626:
  • LTSMHTL
  • IANLSGC
  • HDQGQYECQAV
  • PCFLAGD
  • MQWGQFLDHD
  • QRGRDHG
  • MHTLWFREHNR
  • VLSSGTLRI
  • PCFLAGDHRANE
  • CPSRCLCF

Post-translational modifications for PXDN Gene

  • Glycosylation at Asn640, Asn699, Asn719, Asn731, Asn865, Asn964, Asn1178, Asn1280, Asn1368, and Asn1425
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for PXDN Gene

Antibodies for research

  • Abcam antibodies for PXDN
  • Boster Bio Antibodies for PXDN
  • Santa Cruz Biotechnology (SCBT) Antibodies for PXDN

Domains & Families for PXDN Gene

Gene Families for PXDN Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for PXDN Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin I-set
  • Cysteine-rich flanking region, N-terminal
  • Cysteine-rich flanking region, C-terminal
  • von Willebrand factor, type C
  • Animal haem peroxidase signature
ProtoNet:

Suggested Antigen Peptide Sequences for PXDN Gene

GenScript: Design optimal peptide antigens:
  • p53-responsive gene 2 protein (PXDN_HUMAN)
  • PXDN protein (Q96GF5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92626

UniProtKB/Swiss-Prot:

PXDN_HUMAN :
  • Belongs to the peroxidase family. XPO subfamily.
Family:
  • Belongs to the peroxidase family. XPO subfamily.
genes like me logo Genes that share domains with PXDN: view

Function for PXDN Gene

Molecular function for PXDN Gene

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 CatalyticActivity:
Reaction=2 a phenolic donor + H2O2 = 2 a phenolic radical donor + 2 H2O; Xref=Rhea:RHEA:56136, ChEBI:CHEBI:15377, ChEBI:CHEBI:16240, ChEBI:CHEBI:139520, ChEBI:CHEBI:139521; EC=1.11.1.7; Evidence={ECO:0000269|PubMed:18929642, ECO:0000269|PubMed:19590037};.
UniProtKB/Swiss-Prot Induction:
By TGFB1 in fibroblasts and up-regulated in apoptotic cells.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.15 mM for H(2)O(2) {ECO:0000269|PubMed:18929642};

Enzyme Numbers (IUBMB) for PXDN Gene

Phenotypes From GWAS Catalog for PXDN Gene

Gene Ontology (GO) - Molecular Function for PXDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004601 peroxidase activity IEA,IDA 18929642
GO:0005152 interleukin-1 receptor antagonist activity NAS 11103812
GO:0005201 extracellular matrix structural constituent IDA,RCA 23979707
GO:0005515 protein binding IEA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with PXDN: view
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 Models for research

  • Taconic Biosciences Mouse Models for PXDN

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PXDN

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PXDN gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 3
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PXDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA,IDA 18929642
GO:0005783 endoplasmic reticulum IDA 19590037
GO:0062023 collagen-containing extracellular matrix IEA,IDA 19590037
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with PXDN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PXDN Gene

Pathways & Interactions for PXDN Gene

PathCards logo

SuperPathways for PXDN Gene

SuperPathway Contained pathways
1 EGF/EGFR Signaling Pathway
genes like me logo Genes that share pathways with PXDN: view

Pathways by source for PXDN Gene

1 BioSystems pathway for PXDN Gene

Gene Ontology (GO) - Biological Process for PXDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001960 negative regulation of cytokine-mediated signaling pathway IEA --
GO:0006955 immune response NAS 11103812
GO:0006979 response to oxidative stress IEA --
GO:0030198 extracellular matrix organization IEA,IDA 19590037
GO:0030199 collagen fibril organization IMP 22842973
genes like me logo Genes that share ontologies with PXDN: view

No data available for SIGNOR curated interactions for PXDN Gene

Drugs & Compounds for PXDN Gene

(5) Drugs for PXDN Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydrogen peroxide Approved, Vet_approved Pharma 140
Water Approved Pharma 0
Fe2+ Experimental Pharma 0
heme Pharma 0
Calcium Nutra 6876
genes like me logo Genes that share compounds with PXDN: view

Transcripts for PXDN Gene

mRNA/cDNA for PXDN Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PXDN

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

Expression for PXDN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PXDN Gene



Protein tissue co-expression partners for PXDN Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PXDN

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.

Evidence on tissue expression from TISSUES for PXDN Gene

  • Liver(4.4)
  • Bone marrow(4.2)
  • Lung(3.9)
  • Nervous system(3.4)
  • Heart(3.2)
  • Skin(2.8)
  • Intestine(2.6)
  • Eye(2.4)
  • Muscle(2.2)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PXDN Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • outer ear
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with PXDN: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia PXDN 30 31
  • 99.54 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PXDN 31
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Pxdn 30 17 31
  • 84.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pxdn 30
  • 84.36 (n)
Dog
(Canis familiaris)
Mammalia PXDN 30 31
  • 83.93 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PXDN 30
  • 83.61 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PXDN 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PXDN 30 31
  • 74.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PXDN 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pxdn 30
  • 70.1 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Pxn 30 31
  • 53.43 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta HPX4 30
  • 52.29 (n)
Worm
(Caenorhabditis elegans)
Secernentea pxn-1 30 31
  • 49.51 (n)
ManyToMany
pxn-2 31
  • 37 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToMany
Species where no ortholog for PXDN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PXDN: view image

Paralogs for PXDN Gene

Paralogs for PXDN Gene

(22) SIMAP similar genes for PXDN Gene using alignment to 6 proteins:

  • PXDN_HUMAN
  • C9J4I9_HUMAN
  • H7C1W1_HUMAN
  • H7C300_HUMAN
  • H7C3W2_HUMAN
  • Q96GF5_HUMAN
genes like me logo Genes that share paralogs with PXDN: view

Variants for PXDN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PXDN Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
839270 Uncertain Significance: Anterior segment dysgenesis 7 1,744,425(-) G/A
NM_012293.3(PXDN):c.31C>T (p.Arg11Cys)
MISSENSE
932291 Pathogenic: Anterior segment dysgenesis 1,638,965(-) CCT/C
NM_012293.3(PXDN):c.4085_4086del (p.Gln1362fs)
FRAMESHIFT
940832 Uncertain Significance: Anterior segment dysgenesis 7 1,643,371(-) C/T
NM_012293.3(PXDN):c.3949G>A (p.Glu1317Lys)
MISSENSE
943641 Uncertain Significance: Anterior segment dysgenesis 7 1,680,222(-) G/A
NM_012293.3(PXDN):c.701C>T (p.Ala234Val)
MISSENSE
977092 Uncertain Significance: Anterior segment dysgenesis 7 1,648,781(-) G/C
NM_012293.3(PXDN):c.2999C>G (p.Thr1000Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PXDN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1839n106 CNV deletion 24896259
dgv571e201 CNV deletion 23290073
dgv572e201 CNV deletion 23290073
dgv573e201 CNV deletion 23290073
dgv606n67 CNV gain 20364138
dgv6652n54 CNV gain 21841781
dgv6653n54 CNV gain 21841781
dgv6654n54 CNV loss 21841781
esv1002606 CNV deletion 20482838
esv1009579 CNV deletion 20482838
esv1243391 CNV insertion 17803354
esv1273929 CNV deletion 17803354
esv1278021 CNV insertion 17803354
esv1343489 CNV deletion 17803354
esv1407173 CNV insertion 17803354
esv1443452 CNV deletion 17803354
esv1629001 CNV insertion 17803354
esv1653800 CNV deletion 17803354
esv2045423 CNV deletion 18987734
esv2270555 CNV deletion 18987734
esv23941 CNV loss 19812545
esv2544823 CNV deletion 19546169
esv26558 CNV loss 19812545
esv2665854 CNV deletion 23128226
esv2668630 CNV deletion 23128226
esv2668758 CNV deletion 23128226
esv2670619 CNV deletion 23128226
esv2678591 CNV deletion 23128226
esv2719343 CNV deletion 23290073
esv2719344 CNV deletion 23290073
esv2719345 CNV deletion 23290073
esv2719346 CNV deletion 23290073
esv2719347 CNV deletion 23290073
esv2719348 CNV deletion 23290073
esv2719349 CNV deletion 23290073
esv2719351 CNV deletion 23290073
esv2719352 CNV deletion 23290073
esv2719353 CNV deletion 23290073
esv2719354 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
esv2719365 CNV deletion 23290073
esv2719366 CNV deletion 23290073
esv2719367 CNV deletion 23290073
esv2719369 CNV deletion 23290073
esv2719371 CNV deletion 23290073
esv2743353 CNV deletion 23290073
esv28170 CNV gain+loss 19812545
esv3388155 CNV duplication 20981092
esv3418459 CNV duplication 20981092
esv3551145 CNV deletion 23714750
esv3589634 CNV loss 21293372
esv3891470 CNV gain 25118596
esv989069 CNV insertion 20482838
nsv1005443 CNV gain 25217958
nsv1007175 CNV gain 25217958
nsv1007958 CNV gain 25217958
nsv1071561 CNV deletion 25765185
nsv1072377 CNV deletion 25765185
nsv1072378 CNV deletion 25765185
nsv1072379 CNV deletion 25765185
nsv1078915 CNV insertion 25765185
nsv1109227 CNV deletion 24896259
nsv1112324 CNV deletion 24896259
nsv1114043 CNV deletion 24896259
nsv1120367 CNV tandem duplication 24896259
nsv1121559 CNV deletion 24896259
nsv1123285 CNV deletion 24896259
nsv1125210 CNV insertion 24896259
nsv1125606 CNV deletion 24896259
nsv1126525 CNV deletion 24896259
nsv1129629 CNV tandem duplication 24896259
nsv1130743 CNV deletion 24896259
nsv1134824 CNV deletion 24896259
nsv1142866 CNV deletion 24896259
nsv1148521 CNV deletion 26484159
nsv215054 CNV deletion 16902084
nsv472360 CNV novel sequence insertion 20440878
nsv472876 CNV novel sequence insertion 20440878
nsv473666 CNV novel sequence insertion 20440878
nsv473856 CNV novel sequence insertion 20440878
nsv473887 CNV novel sequence insertion 20440878
nsv473940 CNV novel sequence insertion 20440878
nsv478975 CNV novel sequence insertion 20440878
nsv479035 CNV novel sequence insertion 20440878
nsv479276 CNV novel sequence insertion 20440878
nsv479612 CNV novel sequence insertion 20440878
nsv480803 CNV novel sequence insertion 20440878
nsv481164 CNV novel sequence insertion 20440878
nsv481476 CNV novel sequence insertion 20440878
nsv521199 CNV loss 19592680
nsv580758 CNV gain+loss 21841781
nsv580764 CNV loss 21841781
nsv821306 CNV deletion 20802225
nsv828064 CNV gain 20364138
nsv828075 CNV gain 20364138
nsv828086 CNV gain 20364138
nsv828097 CNV gain 20364138
nsv953375 CNV deletion 24416366
nsv999928 CNV gain 25217958

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)

Additional Variant Information for PXDN Gene

Human Gene Mutation Database (HGMD)
PXDN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PXDN

SNP Genotyping and Copy Number Assays for research

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

Disorders for PXDN Gene

MalaCards: The human disease database

(20) MalaCards diseases for PXDN Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
anterior segment dysgenesis 7
  • asgd7
anterior segment dysgenesis
  • anterior segment developmental anomaly
axenfeld-rieger syndrome, type 3
  • rieg3
anterior segment dysgenesis 1
  • asgd1
tinea manuum
  • dermatophytosis of hand
- elite association - COSMIC cancer census association via MalaCards
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UniProtKB/Swiss-Prot

PXDN_HUMAN
  • Anterior segment dysgenesis 7 (ASGD7) [MIM:269400]: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD7 is an autosomal recessive disease. {ECO:0000269 PubMed:21907015}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PXDN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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No data available for Genatlas for PXDN Gene

Publications for PXDN Gene

  1. Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. (PMID: 21907015) Khan K … Ali M (American journal of human genetics 2011) 3 4 74
  2. 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 (Biochemical and biophysical research communications 1999) 2 3 4
  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 research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4
  4. Peroxidasin forms sulfilimine chemical bonds using hypohalous acids in tissue genesis. (PMID: 22842973) Bhave G … Hudson BG (Nature chemical biology 2012) 2 3
  5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41

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Sources for PXDN Gene