This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants e... See more...

Aliases for PKP3 Gene

Aliases for PKP3 Gene

  • Plakophilin 3 2 3 5
  • Plakophilin-3 3 4
  • Plakophilin 3b 3
  • PKP3 5

External Ids for PKP3 Gene

Previous GeneCards Identifiers for PKP3 Gene

  • GC11U990201
  • GC11M000795
  • GC11P000384
  • GC11P000354
  • GC11P000209

Summaries for PKP3 Gene

Entrez Gene Summary for PKP3 Gene

  • This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

GeneCards Summary for PKP3 Gene

PKP3 (Plakophilin 3) is a Protein Coding gene. Diseases associated with PKP3 include Pemphigus and Tinea Imbricata. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include binding and alpha-catenin binding. An important paralog of this gene is CTNND2.

UniProtKB/Swiss-Prot Summary for PKP3 Gene

Gene Wiki entry for PKP3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PKP3 Gene

Genomics for PKP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PKP3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J000391 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 260.9 +2.3 2294 5.8 MYC IKZF1 JUND ZNF592 ZMYM3 NFIC MXD4 SMAD5 BHLHE40 TBP PKP3 HSALNG0081963 HSALNG0081964 SIGIRR TSPAN4 TMEM80 SNORA52 PHRF1 BET1L ENSG00000255237
GH11J000390 Enhancer 0.4 dbSUPER 260.8 -1.2 -1192 0.9 HNRNPL EGR2 ZFHX2 EGR1 PKP3 SIGIRR TMEM80 HSALNG0081963 piR-38429-010 B4GALNT4
GH11J000574 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 6.3 +185.7 185723 7 SP1 ZNF207 MYC ZNF600 SIX5 JUND POLR2A CEBPA ZNF223 ATF3 PHRF1 piR-42043-001 TMEM80 HRAS LMNTD2-AS1 IRF7 ENSG00000255158 PKP3 LOC143666 lnc-PHRF1-1
GH11J000559 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.3 +170.3 170319 7.5 SP1 IKZF1 ZNF592 ZIC2 MXD4 NONO CTCF SMAD5 SIN3A CHD2 LMNTD2 NONHSAG007323.2 RASSF7 HRAS TMEM80 PKP3 PHRF1 RNH1 PTDSS2 lnc-HRAS-3
GH11J000389 Enhancer 0.5 Ensembl 8.7 -3.2 -3188 0.8 NCOR1 TAL1 ZEB2 TCF12 DPF2 DACH1 CBFA2T2 CBFA2T3 ZNF335 piR-38429-010 piR-45349-006 SIGIRR PKP3 HSALNG0081963 B4GALNT4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PKP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PKP3

Top Transcription factor binding sites by QIAGEN in the PKP3 gene promoter:
  • AREB6
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-2

Genomic Locations for PKP3 Gene

Latest Assembly
chr11:392,596-404,908
(GRCh38/hg38)
Size:
12,313 bases
Orientation:
Plus strand

Previous Assembly
chr11:392,596-404,908
(GRCh37/hg19 by Entrez Gene)
Size:
12,313 bases
Orientation:
Plus strand

chr11:392,614-404,908
(GRCh37/hg19 by Ensembl)
Size:
12,295 bases
Orientation:
Plus strand

Genomic View for PKP3 Gene

Genes around PKP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKP3 Gene

Proteins for PKP3 Gene

  • Protein details for PKP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y446-PKP3_HUMAN
    Recommended name:
    Plakophilin-3
    Protein Accession:
    Q9Y446
    Secondary Accessions:
    • F8J390
    • Q53EX8

    Protein attributes for PKP3 Gene

    Size:
    797 amino acids
    Molecular mass:
    87082 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PKP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PKP3 Gene

Post-translational modifications for PKP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PKP3 Gene

Domains & Families for PKP3 Gene

Gene Families for PKP3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PKP3 Gene

Suggested Antigen Peptide Sequences for PKP3 Gene

GenScript: Design optimal peptide antigens:
  • Plakophilin 3b (F8J390_HUMAN)
  • Plakophilin-3 (PKP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y446

UniProtKB/Swiss-Prot:

PKP3_HUMAN :
  • Belongs to the beta-catenin family.
Family:
  • Belongs to the beta-catenin family.
genes like me logo Genes that share domains with PKP3: view

Function for PKP3 Gene

Molecular function for PKP3 Gene

UniProtKB/Swiss-Prot Function:
May play a role in junctional plaques.
GENATLAS Biochemistry:
plakophilin 3,component of the plaque protein of desmosomes of most simple and almost all stratified epithelia with the exception of hepatocytes and hepatocellular carcinoma cell,homologous to Drosophila Armadillo segment polarity gene

Phenotypes From GWAS Catalog for PKP3 Gene

Gene Ontology (GO) - Molecular Function for PKP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 NOT RNA binding IDA 25225333
GO:0005515 protein binding IPI 25225333
GO:0019899 enzyme binding IPI 25225333
GO:0045182 NOT translation regulator activity IMP 25225333
GO:0045294 alpha-catenin binding IPI 23136403
genes like me logo Genes that share ontologies with PKP3: view
genes like me logo Genes that share phenotypes with PKP3: view

Animal Models for PKP3 Gene

MGI Knock Outs for PKP3:
  • Pkp3 Pkp3<tm1.1Fvr>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKP3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PKP3 Gene

Localization for PKP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKP3 Gene

Nucleus. Cell junction, desmosome. Note=Nuclear and associated with desmosomes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PKP3 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 4
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (4)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PKP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005634 nucleus IEA,IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA 21873635
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with PKP3: view

Pathways & Interactions for PKP3 Gene

PathCards logo

SuperPathways for PKP3 Gene

genes like me logo Genes that share pathways with PKP3: view

Pathways by source for PKP3 Gene

Gene Ontology (GO) - Biological Process for PKP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002159 desmosome assembly IMP 20859650
GO:0006417 NOT regulation of translation IEA,IMP 25225333
GO:0007043 cell-cell junction assembly IBA 21873635
GO:0007155 cell adhesion IEA --
GO:0010628 positive regulation of gene expression IMP 25225333
genes like me logo Genes that share ontologies with PKP3: view

No data available for SIGNOR curated interactions for PKP3 Gene

Drugs & Compounds for PKP3 Gene

No Compound Related Data Available

Transcripts for PKP3 Gene

mRNA/cDNA for PKP3 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKP3

Alternative Splicing Database (ASD) splice patterns (SP) for PKP3 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^
SP1:
SP2: - - - -
SP3:
SP4: - - - - - -
SP5: - - - - -
SP6: - - -
SP7:
SP8:
SP9: -
SP10:
SP11:

ExUns: 16 ^ 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for PKP3 Gene

GeneLoc Exon Structure for
PKP3

Expression for PKP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PKP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKP3 Gene

This gene is overexpressed in Esophagus - Mucosa (x13.3), Skin - Sun Exposed (Lower leg) (x9.8), Skin - Not Sun Exposed (Suprapubic) (x9.3), and Vagina (x4.4).

Protein differential expression in normal tissues from HIPED for PKP3 Gene

This gene is overexpressed in Cervix (55.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PKP3 Gene



Protein tissue co-expression partners for PKP3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PKP3

SOURCE GeneReport for Unigene cluster for PKP3 Gene:

Hs.534395

mRNA Expression by UniProt/SwissProt for PKP3 Gene:

Q9Y446-PKP3_HUMAN
Tissue specificity: Isoform PKP3a is found in desmosomes of most simple and stratified epithelia. Not found in foreskin fibroblasts and various sarcoma-derived cell lines. Beside dendritic reticular cells of lymphatic follicles not found in non-epithelial desmosome-bearing tissues. Isoform PKP3b is abundant in the desmosomes of stratified epithelial cell but absent in simple epithelial cells, it is also expressed in the colon and its tumors.

Evidence on tissue expression from TISSUES for PKP3 Gene

  • Intestine(4.6)
  • Skin(3)
  • Pancreas(2.5)
  • Stomach(2)
genes like me logo Genes that share expression patterns with PKP3: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PKP3 Gene

Orthologs for PKP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PKP3 Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia PKP3 29 30
  • 88.99 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PKP3 29 30
  • 86.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pkp3 29 16 30
  • 86.53 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pkp3 29
  • 86.22 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PKP3 30
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PKP3 29 30
  • 71.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PKP3 30
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pkp3 29
  • 64.9 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100330353 29
  • 56.52 (n)
PKP3 (2 of 2) 30
  • 43 (a)
OneToMany
pkp3a 30
  • 39 (a)
OneToMany
Species where no ortholog for PKP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PKP3 Gene

ENSEMBL:
Gene Tree for PKP3 (if available)
TreeFam:
Gene Tree for PKP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PKP3: view image
Alliance of Genome Resources:
Additional Orthologs for PKP3

Paralogs for PKP3 Gene

Paralogs for PKP3 Gene

genes like me logo Genes that share paralogs with PKP3: view

Variants for PKP3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PKP3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs116633466 Benign: not provided 403,749(+) C/T
NM_007183.4(PKP3):c.2055C>T (p.Asn685=)
SYNONYMOUS
rs140479964 Likely Benign: not provided 400,064(+) G/A
NM_007183.4(PKP3):c.1371G>A (p.Ser457=)
SYNONYMOUS
rs146366062 Benign: not provided 396,865(+) C/T
NM_007183.4(PKP3):c.364C>T (p.Arg122Cys)
MISSENSE
rs375937629 Likely Benign: not provided 396,978(+) C/T
NM_007183.4(PKP3):c.477C>T (p.Thr159=)
SYNONYMOUS
rs77752215 Benign: not provided 397,390(+) G/T
NM_007183.4(PKP3):c.889G>T (p.Val297Leu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PKP3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PKP3 Gene

Variant ID Type Subtype PubMed ID
dgv1012n100 CNV gain 25217958
dgv1505n54 CNV gain 21841781
dgv1508n54 CNV gain+loss 21841781
dgv1509n54 CNV gain 21841781
dgv1510n54 CNV loss 21841781
dgv1511n54 CNV loss 21841781
dgv1512n54 CNV gain+loss 21841781
dgv1513n54 CNV gain+loss 21841781
dgv1514n54 CNV gain 21841781
dgv1515n54 CNV gain 21841781
dgv1516n54 CNV loss 21841781
dgv182e199 CNV deletion 23128226
dgv564n106 OTHER inversion 24896259
esv1656697 CNV deletion 17803354
esv2659206 CNV deletion 23128226
esv2664242 CNV deletion 23128226
esv28392 CNV gain+loss 19812545
nsv1069536 CNV deletion 25765185
nsv1070917 CNV deletion 25765185
nsv1077764 OTHER inversion 25765185
nsv1118198 CNV deletion 24896259
nsv1136119 CNV deletion 24896259
nsv1159790 CNV deletion 26073780
nsv39515 CNV deletion 16902084
nsv467633 CNV loss 19166990
nsv469923 CNV loss 18288195
nsv527327 CNV loss 19592680
nsv552770 CNV gain 21841781
nsv552776 CNV loss 21841781
nsv552779 CNV gain 21841781
nsv552818 CNV loss 21841781
nsv552821 CNV loss 21841781
nsv552822 CNV loss 21841781
nsv951268 CNV deletion 24416366

Variation tolerance for PKP3 Gene

Residual Variation Intolerance Score: 96.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.33; 53.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PKP3 Gene

Human Gene Mutation Database (HGMD)
PKP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PKP3
Leiden Open Variation Database (LOVD)
PKP3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKP3 Gene

Disorders for PKP3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PKP3 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
pemphigus
tinea imbricata
  • tinea imbricata, susceptibility to
arrhythmogenic right ventricular cardiomyopathy
  • arrhythmogenic right ventricular dysplasia
cardiomyopathy, dilated, with woolly hair and keratoderma
  • dcwhk
naxos disease
  • nxd
- elite association - COSMIC cancer census association via MalaCards
Search PKP3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PKP3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PKP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PKP3 Gene

Publications for PKP3 Gene

  1. Plakophilin 3--a novel cell-type-specific desmosomal plaque protein. (PMID: 10374265) Schmidt A … Franke WW (Differentiation; research in biological diversity 1999) 2 3 4 22
  2. Plakophilin-3, a novel armadillo-like protein present in nuclei and desmosomes of epithelial cells. (PMID: 10381383) Bonné S … van Roy F (Journal of cell science 1999) 3 4 22
  3. An alternative promoter of the human plakophilin-3 gene controls the expression of the new isoform PKP3b. (PMID: 24178805) Mühmer M … Schmidt A (Cell and tissue research 2014) 3 4
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  5. Bioinformatics approach to mRNA markers discovery for detection of circulating tumor cells in patients with gastrointestinal cancer. (PMID: 18801625) Valladares-Ayerbes M … Antón-Aparicio LM (Cancer detection and prevention 2008) 3 22

Products for PKP3 Gene

Sources for PKP3 Gene