PXDN (peroxidasin)

2003-02-01  

Identity

HGNC
PXDN
LOCATION
2p25.3
LOCUSID
7837
ALIAS
ASGD7,COPOA,D2S448,D2S448E,MG50,PRG2,PXN,VPO
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7837
MIM: 605158
HGNC: 14966
Ensembl: ENSG00000130508

Variants:

dbSNP: 7837
ClinVar: 7837
TCGA: ENSG00000130508
COSMIC: PXDN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130508ENST00000252804Q92626
ENSG00000130508ENST00000425171C9J4I9
ENSG00000130508ENST00000433670H7C1W1
ENSG00000130508ENST00000447941H7C300
ENSG00000130508ENST00000453308H7C3W2

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
195900372009Peroxidasin is secreted and incorporated into the extracellular matrix of myofibroblasts and fibrotic kidney.34
219070152011Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.29
248954072014Peroxidasin is essential for eye development in the mouse.23
225266792012Microbicidal activity of vascular peroxidase 1 in human plasma via generation of hypochlorous acid.16
249395902015Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.16
229825762012Vascular peroxidase 1 catalyzes the formation of hypohalous acids: characterization of its substrate specificity and enzymatic properties.14
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
218200482011Role of VPO1, a newly identified heme-containing peroxidase, in ox-LDL induced endothelial cell apoptosis.11

Citation

Dessen P

PXDN (peroxidasin)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40257/pxdn-(peroxidasin)