PXDN
Peroxidasin homolog
Also known as: D2S448, D2S448E, KIAA0230, MG50, PRG2, PXDN_HUMAN, PXN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92626
- Gene
- PXDN
- Ensembl
- ENSG00000130508
- Chromosome
- 2
- Canonical length
- 1479 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Predicted secreted proteins
- Secretome location
- Secreted to extracellular matrix
- Quaternary structure
- Homotrimer
OverviewNCBI 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 this gene cause corneal opacification and other ocular anomalies, and also microphthalmia and anterior segment dysgenesis. [provided by RefSeq, Aug 2014]
Canonical amino-acid sequenceUniProt
1479 residues, UniProt reviewed canonical sequence.
>Q92626|PXDN
1 MAKRSRGPGR RCLLALVLFC AWGTLAVVAQ KPGAGCPSRC LCFRTTVRCM HLLLEAVPAV
61 APQTSILDLR FNRIREIQPG AFRRLRNLNT LLLNNNQIKR IPSGAFEDLE NLKYLYLYKN
121 EIQSIDRQAF KGLASLEQLY LHFNQIETLD PDSFQHLPKL ERLFLHNNRI THLVPGTFNH
181 LESMKRLRLD SNTLHCDCEI LWLADLLKTY AESGNAQAAA ICEYPRRIQG RSVATITPEE
241 LNCERPRITS EPQDADVTSG NTVYFTCRAE GNPKPEIIWL RNNNELSMKT DSRLNLLDDG
301 TLMIQNTQET DQGIYQCMAK NVAGEVKTQE VTLRYFGSPA RPTFVIQPQN TEVLVGESVT
361 LECSATGHPP PRISWTRGDR TPLPVDPRVN ITPSGGLYIQ NVVQGDSGEY ACSATNNIDS
421 VHATAFIIVQ ALPQFTVTPQ DRVVIEGQTV DFQCEAKGNP PPVIAWTKGG SQLSVDRRHL
481 VLSSGTLRIS GVALHDQGQY ECQAVNIIGS QKVVAHLTVQ PRVTPVFASI PSDTTVEVGA
541 NVQLPCSSQG EPEPAITWNK DGVQVTESGK FHISPEGFLT INDVGPADAG RYECVARNTI
601 GSASVSMVLS VNVPDVSRNG DPFVATSIVE AIATVDRAIN STRTHLFDSR PRSPNDLLAL
661 FRYPRDPYTV EQARAGEIFE RTLQLIQEHV QHGLMVDLNG TSYHYNDLVS PQYLNLIANL
721 SGCTAHRRVN NCSDMCFHQK YRTHDGTCNN LQHPMWGASL TAFERLLKSV YENGFNTPRG
781 INPHRLYNGH ALPMPRLVST TLIGTETVTP DEQFTHMLMQ WGQFLDHDLD STVVALSQAR
841 FSDGQHCSNV CSNDPPCFSV MIPPNDSRAR SGARCMFFVR SSPVCGSGMT SLLMNSVYPR
901 EQINQLTSYI DASNVYGSTE HEARSIRDLA SHRGLLRQGI VQRSGKPLLP FATGPPTECM
961 RDENESPIPC FLAGDHRANE QLGLTSMHTL WFREHNRIAT ELLKLNPHWD GDTIYYETRK
1021 IVGAEIQHIT YQHWLPKILG EVGMRTLGEY HGYDPGINAG IFNAFATAAF RFGHTLVNPL
1081 LYRLDENFQP IAQDHLPLHK AFFSPFRIVN EGGIDPLLRG LFGVAGKMRV PSQLLNTELT
1141 ERLFSMAHTV ALDLAAINIQ RGRDHGIPPY HDYRVYCNLS AAHTFEDLKN EIKNPEIREK
1201 LKRLYGSTLN IDLFPALVVE DLVPGSRLGP TLMCLLSTQF KRLRDGDRLW YENPGVFSPA
1261 QLTQIKQTSL ARILCDNADN ITRVQSDVFR VAEFPHGYGS CDEIPRVDLR VWQDCCEDCR
1321 TRGQFNAFSY HFRGRRSLEF SYQEDKPTKK TRPRKIPSVG RQGEHLSNST SAFSTRSDAS
1381 GTNDFREFVL EMQKTITDLR TQIKKLESRL STTECVDAGG ESHANNTKWK KDACTICECK
1441 DGQVTCFVEA CPPATCAVPV NIPGACCPVC LQKRAEEKPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PXDN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 55 nTPM
Expression across tissuesHPA
Tissue
- smooth muscle: 55 nTPM
- adipose tissue: 52 nTPM
- blood vessel: 49 nTPM
- colon: 35 nTPM
- ovary: 34 nTPM
- breast: 33 nTPM
Single-cell type
- adipocytes: 292 nCPM
- myosatellite cells: 264 nCPM
- hepatic stellate cells: 174 nCPM
- endometrial stromal cells: 160 nCPM
- choroid plexus epithelial cells: 149 nCPM
- oligodendrocyte progenitor cells: 96 nCPM
Immune cell
- plasmacytoid DC: 0.3 nTPM
- naive CD4 T-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- choroid plexus: 52 nTPM
- hypothalamus: 16 nTPM
- midbrain: 12 nTPM
- thalamus: 10 nTPM
- pons: 9.6 nTPM
- cerebral cortex: 8.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PXDN.
Disease | AllUniProt
Conditions PXDN is implicated in, by any mechanism.
- Anterior segment dysgenesis 7 (ASGD7) MIM:269400
Disease | GeneticClinVar
28 pathogenic / likely-pathogenic of 609 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Anterior segment dysgenesis 7
- Anterior segment dysgenesis
- Glaucoma 3A
- PXDN-related disorder
- Gastric cancer
Disease | ImmuneIEDB
Conditions an epitope on PXDN was assayed in.
- skin melanoma T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.52
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.21
- DepMap mean gene effect
- 0.1
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis
- basement membrane assembly
- basement membrane organization
- cell adhesion
- collagen fibril organization
- extracellular matrix organization
- eye development
- hydrogen peroxide catabolic process
- immune response
- protein homooligomerization
- protein homotrimerization
- response to oxidative stress
Molecular functions
- extracellular matrix structural constituent
- heme binding
- interleukin-1 receptor antagonist activity
- laminin-1 binding
- metal ion binding
- oxidoreductase activity, acting on peroxide as acceptor
- peroxidase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Cysteine-rich flanking region, C-terminal
- VWFC domain
- Leucine-rich repeat
- Leucine-rich repeat, typical subtype
- Immunoglobulin subtype 2
- Immunoglobulin domain subtype
- Immunoglobulin-like domain
- Haem peroxidase superfamily
- Immunoglobulin I-set
- Immunoglobulin-like fold
- Haem peroxidase, animal-type
- Leucine-rich repeat domain superfamily
- Peroxidasin, peroxidase domain
- Immunoglobulin-like domain superfamily
- Haem peroxidase domain superfamily, animal type
- Leucine Rich Repeat
- Animal haem peroxidase
- Immunoglobulin I-set domain
- Leucine rich repeat
- VWC2L-like domain
- Peroxidasin, Ig-like domain 4
- Peroxidasin, Ig-like domain 3
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PXDN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PXDN as an antibody target. Whether an autoantibody or antibody against PXDN could matter depends on whether native PXDN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PXDN is annotated at the cell surface, where native PXDN is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label PXDN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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