Aliases for PXDNL Gene

Aliases for PXDNL Gene

  • Peroxidasin Like 2 3 5
  • Peroxidasin-Like Protein 3 4
  • Vascular Peroxidase 2 3 4
  • Cardiac Peroxidase 3 4
  • EC 4 51
  • PMR1 2 3
  • PRM1 3 4
  • VPO2 3 4
  • Polysomal Ribonuclease 1 Homolog (Xenopus) 2
  • Peroxidasin Homolog-Like (Drosophila) 2
  • Peroxidasin Homolog (Drosophila)-Like 2
  • Polysomal Ribonuclease 1 Homolog 3
  • Cardiovascular Peroxidase 2 3
  • Peroxidasin Homolog-Like 3
  • Polysomal Ribonuclease 1 4
  • EC 1.11.1 51
  • FLJ25471 2
  • PXDNL 5

External Ids for PXDNL Gene

Previous GeneCards Identifiers for PXDNL Gene

  • GC08M052395
  • GC08M052232
  • GC08M047697

Summaries for PXDNL Gene

CIViC Summary for PXDNL Gene

GeneCards Summary for PXDNL Gene

PXDNL (Peroxidasin Like) is a Protein Coding gene. Diseases associated with PXDNL include Fraser Syndrome 1 and Crisponi/Cold-Induced Sweating Syndrome 1. Gene Ontology (GO) annotations related to this gene include heme binding and peroxidase activity. An important paralog of this gene is PXDN.

UniProtKB/Swiss-Prot Summary for PXDNL Gene

  • [Isoform PMR1]: Endonuclease selectively degrading some target mRNAs while they are engaged by translating ribosomes, among which albumin and beta-globin mRNAs.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PXDNL Gene

Genomics for PXDNL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PXDNL Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J051896 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 255.2 -90.2 -90158 6.4 CHD2 TBP ZBTB10 MXD4 ZNF217 FOXA1 MNT BRCA1 SMAD5 POLR2A PCMTD1 LOC102724330 PXDNL ENSG00000253844 piR-41245-273 ST18
GH08J051807 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 250.7 +0.7 744 2.2 ZNF316 MAFK CTCF ENSG00000272076 PXDNL LOC102724330 PCMTD1 HSALNG0065235
GH08J051646 Enhancer 0.6 Ensembl 11.2 +162.6 162644 1.2 IRF4 NR2F1 ATF2 BACH1 IKZF1 SPI1 MAFK FOS MTA2 DPF2 HSALNG0065231 PXDNL PCMTD1 piR-61580-615
GH08J051884 Enhancer 0.9 Ensembl ENCODE dbSUPER 6 -75.5 -75456 6.2 ZBTB33 SPI1 MAX HNF4A REST SP1 YY1 HNF4G GABPA PCMTD1 LOC102724330 PXDNL ENSG00000253475 lnc-PXDNL-3
GH08J051834 Enhancer 0.2 FANTOM5 17.2 -25.4 -25430 0.3 HSALNG0065242 PXDNL LOC102724330 PCMTD1 HSALNG0065240 lnc-PXDNL-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the PXDNL gene promoter:
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • SRF
  • SRF (504 AA)
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT5B

Genomic Locations for PXDNL Gene

Latest Assembly
489,871 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
489,869 bases
Minus strand

(GRCh37/hg19 by Ensembl)
489,868 bases
Minus strand

Genomic View for PXDNL Gene

Genes around PXDNL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PXDNL Gene

Proteins for PXDNL Gene

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

    Protein Symbol:
    Recommended name:
    Peroxidasin-like protein
    Protein Accession:
    Secondary Accessions:
    • B5ME43
    • B6CGZ3
    • H0YBM9
    • Q6ZMR2
    • Q96LH9

    Protein attributes for PXDNL Gene

    1463 amino acids
    Molecular mass:
    163686 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Name=heme b; Xref=ChEBI:CHEBI:60344;
    Quaternary structure:
    No Data Available
    • Sequence=AAX70929.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB71713.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAD18663.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=EAW86707.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for PXDNL Gene


neXtProt entry for PXDNL Gene

Selected DME Specific Peptides for PXDNL Gene


Post-translational modifications for PXDNL Gene

  • Phosphorylation by SRC on tyrosine residues is required for targeting to polysomes.
  • Glycosylation at Asn387
  • Modification sites at PhosphoSitePlus

Other Protein References for PXDNL Gene

Domains & Families for PXDNL Gene

Gene Families for PXDNL Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PXDNL Gene

GenScript: Design optimal peptide antigens:
  • Vascular peroxidase 2 (PXDNL_HUMAN)

Graphical View of Domain Structure for InterPro Entry



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

Function for PXDNL Gene

Molecular function for PXDNL Gene

UniProtKB/Swiss-Prot Function:
[Isoform PMR1]: Endonuclease selectively degrading some target mRNAs while they are engaged by translating ribosomes, among which albumin and beta-globin mRNAs.
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=;.

Enzyme Numbers (IUBMB) for PXDNL Gene

Phenotypes From GWAS Catalog for PXDNL Gene

Gene Ontology (GO) - Molecular Function for PXDNL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004601 peroxidase activity IBA,ISS --
GO:0005515 protein binding IEA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with PXDNL: view
genes like me logo Genes that share phenotypes with PXDNL: view

Inhibitory RNAs for research

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

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PXDNL Gene

Localization for PXDNL Gene

Subcellular locations from UniProtKB/Swiss-Prot for PXDNL Gene

[Isoform PMR1]: Cytoplasm. Note=Associates with polysomes.

Subcellular locations from

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 PXDNL gene
Compartment Confidence
extracellular 5
nucleus 2
cytosol 2
lysosome 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PXDNL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA,ISS --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PXDNL: view

Pathways & Interactions for PXDNL Gene

PathCards logo

SuperPathways for PXDNL Gene

No Data Available

Gene Ontology (GO) - Biological Process for PXDNL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006979 response to oxidative stress IEA --
GO:0042744 hydrogen peroxide catabolic process ISS --
GO:0055114 oxidation-reduction process ISS --
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
GO:0098869 cellular oxidant detoxification IEA --
genes like me logo Genes that share ontologies with PXDNL: view

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

Drugs & Compounds for PXDNL Gene

(5) Drugs for PXDNL 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 PXDNL: view

Transcripts for PXDNL Gene

mRNA/cDNA for PXDNL Gene

8 NCBI additional mRNA sequence :
4 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 PXDNL

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c
SP1: -
SP2: - - -

Relevant External Links for PXDNL Gene

GeneLoc Exon Structure for

Expression for PXDNL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PXDNL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Heart (Cardiovascular System)

mRNA differential expression in normal tissues according to GTEx for PXDNL Gene

This gene is overexpressed in Heart - Atrial Appendage (x25.1) and Heart - Left Ventricle (x19.3).

Protein differential expression in normal tissues from HIPED for PXDNL Gene

This gene is overexpressed in Monocytes (46.7) and Adipocyte (22.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PXDNL Gene

Protein tissue co-expression partners for PXDNL Gene

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

SOURCE GeneReport for Unigene cluster for PXDNL Gene:


mRNA Expression by UniProt/SwissProt for PXDNL Gene:

Tissue specificity: the 57 kDa isoform PMR1 is the only form detected at protein levels in human cell lines.

Evidence on tissue expression from TISSUES for PXDNL Gene

  • Heart(4.4)
genes like me logo Genes that share expression patterns with PXDNL: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PXDNL Gene

Orthologs for PXDNL Gene

This gene was present in the common ancestor of animals.

Orthologs for PXDNL Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PXDNL 30 31
  • 99.2 (n)
(Canis familiaris)
Mammalia PXDNL 30 31
  • 84.45 (n)
(Monodelphis domestica)
Mammalia PXDNL 31
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia PXDNL 31
  • 69 (a)
(Gallus gallus)
Aves PXDNL 30 31
  • 63.52 (n)
(Anolis carolinensis)
Reptilia PXDNL 31
  • 60 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta Pxn 31
  • 37 (a)
(Caenorhabditis elegans)
Secernentea F49E12.1 31
  • 34 (a)
pxn-1 31
  • 33 (a)
C16C8.2 31
  • 33 (a)
pxn-2 31
  • 31 (a)
F32A5.2 31
  • 28 (a)
T06D8.10 31
  • 19 (a)
C46A5.4 31
  • 19 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
Species where no ortholog for PXDNL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Cow (Bos Taurus)
  • 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)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for PXDNL Gene

Gene Tree for PXDNL (if available)
Gene Tree for PXDNL (if available)
Evolutionary constrained regions (ECRs) for PXDNL: view image

Paralogs for PXDNL Gene

Paralogs for PXDNL Gene

(14) SIMAP similar genes for PXDNL Gene using alignment to 3 proteins:

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

Variants for PXDNL Gene

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

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
769205 Benign: not provided 51,408,683(-) T/.
NM_144651.5(PXDNL):c.2941= (p.Met981=)
rs111408510 Benign: not provided 51,447,096(-) G/A
NM_144651.5(PXDNL):c.1433C>T (p.Ala478Val)
rs115225788 Benign: not provided 51,654,731(-) A/T
NM_144651.5(PXDNL):c.194T>A (p.Ile65Asn)
rs141024159 Benign: not specified 51,408,678(-) G/A
NM_144651.5(PXDNL):c.2946C>T (p.Ala982=)
rs141730527 Likely Benign: not provided 51,453,597(-) G/A
NM_144651.5(PXDNL):c.1171C>T (p.Arg391Trp)

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

Variant ID Type Subtype PubMed ID
dgv3824n106 CNV deletion 24896259
dgv7215n100 CNV gain 25217958
dgv7216n100 CNV gain 25217958
esv1005621 CNV deletion 20482838
esv1455278 CNV insertion 17803354
esv1518773 CNV insertion 17803354
esv2236053 CNV deletion 18987734
esv2496359 CNV deletion 19546169
esv2528133 CNV deletion 19546169
esv2555190 CNV insertion 19546169
esv2658183 CNV deletion 23128226
esv2663722 CNV deletion 23128226
esv2672612 CNV deletion 23128226
esv2675507 CNV deletion 23128226
esv2736997 CNV deletion 23290073
esv3310553 CNV novel sequence insertion 20981092
esv3358467 CNV insertion 20981092
esv3543484 CNV deletion 23714750
esv3543485 CNV deletion 23714750
esv3543486 CNV deletion 23714750
esv3572756 CNV loss 25503493
esv3617195 CNV loss 21293372
esv3617196 CNV loss 21293372
esv3617200 CNV gain 21293372
esv3617201 CNV loss 21293372
esv3617202 CNV loss 21293372
esv3891393 CNV loss 25118596
esv998610 CNV insertion 20482838
nsv1023825 CNV gain 25217958
nsv1026429 CNV loss 25217958
nsv1026710 CNV gain 25217958
nsv1076084 CNV deletion 25765185
nsv398056 CNV deletion 16902084
nsv477960 CNV novel sequence insertion 20440878
nsv480561 CNV novel sequence insertion 20440878
nsv509265 CNV insertion 20534489
nsv516548 CNV gain 19592680
nsv6190 CNV insertion 18451855
nsv6191 CNV insertion 18451855
nsv817615 CNV gain 22305530
nsv824629 CNV loss 20364138
nsv831313 CNV loss 17160897
nsv831316 CNV gain 17160897

Variation tolerance for PXDNL Gene

Residual Variation Intolerance Score: 97.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.15; 98.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PXDNL Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for PXDNL Gene

MalaCards: The human disease database

(3) MalaCards diseases for PXDNL Gene - From: COP

Disorder Aliases PubMed IDs
fraser syndrome 1
  • frasrs1
crisponi/cold-induced sweating syndrome 1
  • ciss1
hypertrophy of breast
  • breasts enlarged
- elite association - COSMIC cancer census association via MalaCards
Search PXDNL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PXDNL

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PXDNL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PXDNL Gene

Publications for PXDNL Gene

  1. Identification of the human PMR1 mRNA endonuclease as an alternatively processed product of the gene for peroxidasin-like protein. (PMID: 22543864) Gu SQ … Schoenberg DR (RNA (New York, N.Y.) 2012) 2 3 4
  2. Peroxidasins: novel players in tissue genesis. (PMID: 24924147) Péterfi Z … Geiszt M (Trends in biochemical sciences 2014) 2 3
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Identification and characterization of VPO1, a new animal heme-containing peroxidase. (PMID: 18929642) Cheng G … Lambeth JD (Free radical biology & medicine 2008) 3 4

Products for PXDNL Gene

Sources for PXDNL Gene