Gene Gene information from NCBI Gene database.
Entrez ID 7837
Gene name Peroxidasin
Gene symbol PXDN
Synonyms (NCBI Gene)
ASGD7COPOAD2S448D2S448EMG50PRG2PXNVPOhsPxd01
Chromosome 2
Chromosome location 2p25.3
Summary 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.
10
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.
794
miRTarBase ID miRNA Experiments Reference
MIRT001602 hsa-let-7b-5p pSILAC 18668040
MIRT006551 hsa-miR-29a-3p Luciferase reporter assayWestern 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605158 14966 ENSG00000130508
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Anterior segment dysgenesis Likely pathogenic; Pathogenic rs1558489563, rs967959245 RCV000786020
RCV001200030
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anterior segment dysgenesis 7 Pathogenic; Likely pathogenic rs1316655042, rs2125412042, rs748853041, rs2125411312, rs558163499, rs587777572, rs369535598, rs587777573, rs756846388, rs2546894117, rs2546928153, rs2546894357, rs1572110097, rs1408683917, rs200731840
View all (4 more)
RCV003075482
RCV001388176
RCV002279767
RCV001893709
RCV000128853
View all (14 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer Likely pathogenic rs2546894138 RCV005932764
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glaucoma 3A Pathogenic rs2546904328 RCV003389573
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT MICROCORNEA WITH CORNEAL OPACITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Developmental cataract Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans SADDAN dysplasia BEFREE 29242050
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 17330099
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 17330099
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 21045234
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 24451945
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 29135089
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19817696, 21045234, 21159652
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 24395444
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 29364471
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 20448481 Associate
★☆☆☆☆
Found in Text Mining only