Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7837
Gene name Gene Name - the full gene name approved by the HGNC.
Peroxidasin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PXDN
Synonyms (NCBI Gene) Gene synonyms aliases
ASGD7, COPOA, D2S448, D2S448E, MG50, PRG2, PXN, VPO, hsPxd01
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p25.3
Summary Summary of gene provided in NCBI Entrez 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 th
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs200731840 G>A,C Pathogenic Coding sequence variant, missense variant
rs369535598 G>A Pathogenic Stop gained, coding sequence variant
rs558163499 G>-,GG Pathogenic Frameshift variant, coding sequence variant
rs587777572 G>A,C Pathogenic Missense variant, coding sequence variant
rs587777573 ACACCAGGCGCGGCATGGGAAGG>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001602 hsa-let-7b-5p pSILAC 18668040
MIRT006551 hsa-miR-29a-3p Luciferase reporter assay, Western blot 20566844
MIRT021390 hsa-miR-9-5p Microarray 17612493
MIRT023628 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT023628 hsa-miR-1-3p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IMP 29982533
GO:0001654 Process Eye development IEA
GO:0001960 Process Negative regulation of cytokine-mediated signaling pathway IEA
GO:0004601 Function Peroxidase activity IBA
GO:0004601 Function Peroxidase activity IDA 18929642, 19590037
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605158 14966 ENSG00000130508
Protein
UniProt ID Q92626
Protein name Peroxidasin homolog (EC 1.11.2.-) (Melanoma-associated antigen MG50) (Peroxidasin 1) (hsPxd01) (Vascular peroxidase 1) (p53-responsive gene 2 protein) [Cleaved into: PXDN active fragment]
Protein function Catalyzes the two-electron oxidation of bromide by hydrogen peroxide and generates hypobromite as a reactive intermediate which mediates the formation of sulfilimine cross-links between methionine and hydroxylysine residues within an uncross-lin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 62 117 Leucine rich repeat Repeat
PF13855 LRR_8 86 146 Leucine rich repeat Repeat
PF13855 LRR_8 139 194 Leucine rich repeat Repeat
PF07679 I-set 246 334 Immunoglobulin I-set domain Domain
PF07679 I-set 342 429 Immunoglobulin I-set domain Domain
PF07679 I-set 433 519 Immunoglobulin I-set domain Domain
PF07679 I-set 525 611 Immunoglobulin I-set domain Domain
PF03098 An_peroxidase 741 1289 Animal haem peroxidase Domain
PF00093 VWC 1415 1470 von Willebrand factor type C domain Family
Tissue specificity 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
Sequence
MAKRSRGPGRRCLLALVLFCAWGTLAVVAQKPGAGCPSRCLCFRTTVRCMHLLLEAVPAV
APQTSILDLRFNRIREIQPGAFRRLRNLNTLLLNNNQIKRIPSGAFEDLENLKYLYLYKN
EIQSIDRQAFKGLASLEQLYLHFNQIETLDPDSFQHLPKLERLFLHNNRITHLVPGTFNH
LESMKRLRLDSNTL
HCDCEILWLADLLKTYAESGNAQAAAICEYPRRIQGRSVATITPEE
LNCERPRITSEPQDADVTSGNTVYFTCRAEGNPKPEIIWLRNNNELSMKTDSRLNLLDDG
TLMIQNTQETDQGIYQCMAKNVAGEVKTQEVTLR
YFGSPARPTFVIQPQNTEVLVGESVT
LECSATGHPPPRISWTRGDRTPLPVDPRVNITPSGGLYIQNVVQGDSGEYACSATNNIDS
VHATAFIIV
QALPQFTVTPQDRVVIEGQTVDFQCEAKGNPPPVIAWTKGGSQLSVDRRHL
VLSSGTLRISGVALHDQGQYECQAVNIIGSQKVVAHLTV
QPRVTPVFASIPSDTTVEVGA
NVQLPCSSQGEPEPAITWNKDGVQVTESGKFHISPEGFLTINDVGPADAGRYECVARNTI
GSASVSMVLSV
NVPDVSRNGDPFVATSIVEAIATVDRAINSTRTHLFDSRPRSPNDLLAL
FRYPRDPYTVEQARAGEIFERTLQLIQEHVQHGLMVDLNGTSYHYNDLVSPQYLNLIANL
SGCTAHRRVNNCSDMCFHQKYRTHDGTCNNLQHPMWGASLTAFERLLKSVYENGFNTPRG
INPHRLYNGHALPMPRLVSTTLIGTETVTPDEQFTHMLMQWGQFLDHDLDSTVVALSQAR
FSDGQHCSNVCSNDPPCFSVMIPPNDSRARSGARCMFFVRSSPVCGSGMTSLLMNSVYPR
EQINQLTSYIDASNVYGSTEHEARSIRDLASHRGLLRQGIVQRSGKPLLPFATGPPTECM
RDENESPIPCFLAGDHRANEQLGLTSMHTLWFREHNRIATELLKLNPHWDGDTIYYETRK
IVGAEIQHITYQHWLPKILGEVGMRTLGEYHGYDPGINAGIFNAFATAAFRFGHTLVNPL
LYRLDENFQPIAQDHLPLHKAFFSPFRIVNEGGIDPLLRGLFGVAGKMRVPSQLLNTELT
ERLFSMAHTVALDLAAINIQRGRDHGIPPYHDYRVYCNLSAAHTFEDLKNEIKNPEIREK
LKRLYGSTLNIDLFPALVVEDLVPGSRLGPTLMCLLSTQFKRLRDGDRLWYENPGVFSPA
QLTQIKQTSLARILCDNADNITRVQSDVF
RVAEFPHGYGSCDEIPRVDLRVWQDCCEDCR
TRGQFNAFSYHFRGRRSLEFSYQEDKPTKKTRPRKIPSVGRQGEHLSNSTSAFSTRSDAS
GTNDFREFVLEMQKTITDLRTQIKKLESRLSTTECVDAGGESHANNTKWKKDACTICECK
DGQVTCFVEACPPATCAVPVNIPGACCPVC
LQKRAEEKP
Sequence length 1479
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Crosslinking of collagen fibrils
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Segment dysgenesis anterior segment dysgenesis 7 rs369535598, rs587777573, rs1572110097, rs1408683917, rs200731840, rs1572153816, rs1387582423, rs558163499, rs587777572 N/A
anterior segment dysgenesis Anterior segment dysgenesis rs1558489563 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cataract Developmental cataract N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anterior segment mesenchymal dysgenesis Associate 24939590, 32224865, 39870121
Autistic Disorder Associate 22157634
Calcinosis Cutis Associate 34438259
Cataract Associate 24939590
Cataract microcornea syndrome Associate 24939590
Colorectal Neoplasms Associate 35317099
Depressive Disorder Major Associate 39199364
Endometrial Neoplasms Associate 36581816
Eye Abnormalities Associate 24939590
Glaucoma Associate 24939590, 27409795