PXDN

PXDN
Identifiers
Aliases	PXDN , COPOA, D2S448, D2S448E, MG50, PRG2, PXN, VPO, peroxidasin, ASGD7
External IDs	OMIM: 605158; MGI: 1916925; HomoloGene: 33907; GeneCards: PXDN; OMA:PXDN - orthologs
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2p25.3 Start 1,631,887 bp [1] End 1,744,852 bp [1]
Gene location (Mouse) Chr. Chromosome 12 (mouse) [2] Band 12|12 A2 Start 29,987,607 bp [2] End 30,067,657 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium hair follicle tendon of biceps brachii visceral pleura parietal pleura saphenous vein smooth muscle tissue cartilage tissue ascending aorta adipose tissue Top expressed in hand epithelium of lens renal corpuscle umbilical cord epididymis Gonadal ridge left lung lobe medullary collecting duct otic vesicle external carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function oxidoreductase activity extracellular matrix structural constituent heme binding interleukin-1 receptor antagonist activity metal ion binding peroxidase activity Cellular component extracellular matrix extracellular exosome endoplasmic reticulum extracellular space extracellular region collagen-containing extracellular matrix Biological process extracellular matrix organization response to oxidative stress immune response hydrogen peroxide catabolic process cellular oxidant detoxification negative regulation of cytokine-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7837 69675 Ensembl ENSG00000130508 ENSMUSG00000020674 UniProt Q92626 Q3UQ28 RefSeq (mRNA) NM_012293 NM_181395 NM_177804 RefSeq (protein) NP_036425 NP_852060 Location (UCSC) Chr 2: 1.63 – 1.74 Mb Chr 12: 29.99 – 30.07 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Peroxidasin homolog is a protein that in humans is encoded by the PXDN gene. ^{[5] [6] [7]}

Peroxidasin requires ionic bromine as a co-factor, making bromine an essential element for human life. ^[8]

Clinical significance

Mutations in PXDN are associated with microphthalmia. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000130508 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020674 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Horikoshi N, Cong J, Kley N, Shenk T (Sep 1999). "Isolation of differentially expressed cDNAs from p53-dependent apoptotic cells: activation of the human homologue of the Drosophila peroxidasin gene". Biochem Biophys Res Commun. 261 (3): 864–9. doi:10.1006/bbrc.1999.1123. PMID   10441517.
6. Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N (May 1997). "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". DNA Res. 3 (5): 321–9, 341–54. CiteSeerX   10.1.1.319.3770 . doi: 10.1093/dnares/3.5.321 . PMID   9039502.
7. "Entrez Gene: PXDN peroxidasin homolog (Drosophila)".
8. McCall AS, Cummings CF, Bhave G, Vanacore R, Page-McCaw A, Hudson BG (June 2014). "Bromine is an essential trace element for assembly of collagen IV scaffolds in tissue development and architecture". Cell. 157 (6): 1380–92. doi:10.1016/j.cell.2014.05.009. PMC   4144415 . PMID   24906154.
9. Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A (2014). "Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis". European Journal of Human Genetics. 23 (3): 337–41. doi:10.1038/ejhg.2014.119. PMC   4326713 . PMID   24939590.

Further reading

• Weiler SR, Taylor SM, Deans RJ, Kan-Mitchell J, Mitchell MS, Trent JM (1994). "Assignment of a human melanoma associated gene MG50 (D2S448) to chromosome 2p25.3 by fluorescence in situ hybridization" (PDF). Genomics. 22 (1): 243–4. doi:10.1006/geno.1994.1374. hdl: 2027.42/31471 . PMID   7959781.
• Mitchell MS, Kan-Mitchell J, Minev B, Edman C, Deans RJ (2000). "A novel melanoma gene (MG50) encoding the interleukin 1 receptor antagonist and six epitopes recognized by human cytolytic T lymphocytes". Cancer Res. 60 (22): 6448–56. PMID   11103812.
• Xu YC, Wu RF, Gu Y, Yang YS, Yang MC, Nwariaku FE, Terada LS (2002). "Involvement of TRAF4 in oxidative activation of c-Jun N-terminal kinase". J. Biol. Chem. 277 (31): 28051–7. doi: 10.1074/jbc.M202665200 . PMID   12023963.
• Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID   15146197. S2CID   27764390.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.