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Aliases for PKP4 Gene

Aliases for PKP4 Gene

  • Plakophilin 4 2 3 5
  • P0071 3 4
  • Plakophilin-4 3
  • Catenin 4 3

External Ids for PKP4 Gene

Previous GeneCards Identifiers for PKP4 Gene

  • GC02P157245
  • GC02P157842
  • GC02P159277
  • GC02P159515
  • GC02P159484
  • GC02P159138
  • GC02P159021
  • GC02P151277
  • GC02P159313

Summaries for PKP4 Gene

Entrez Gene Summary for PKP4 Gene

  • Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]

GeneCards Summary for PKP4 Gene

PKP4 (Plakophilin 4) is a Protein Coding gene. Diseases associated with PKP4 include Arrhythmogenic Right Ventricular Cardiomyopathy. Among its related pathways are Keratinization and Cell adhesion_Endothelial cell contacts by junctional mechanisms. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is CTNND2.

UniProtKB/Swiss-Prot for PKP4 Gene

  • Plays a role as a regulator of Rho activity during cytokinesis. May play a role in junctional plaques.

Gene Wiki entry for PKP4 Gene

Additional gene information for PKP4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKP4 Gene

Genomics for PKP4 Gene

GeneHancer (GH) Regulatory Elements for PKP4 Gene

Promoters and enhancers for PKP4 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
GH02I158456 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557 +1.2 1156 3.6 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 PKP4 CCDC148 OR7E28P ENSG00000228586 RPL7AP22
GH02I158126 Enhancer 1 ENCODE 28.6 -327.0 -326955 6.4 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 ATF7 PAF1 UPP2-IT1 PKP4 GALNT5 GC02P158160 UPP2
GH02I158113 Enhancer 0.6 FANTOM5 Ensembl 37.2 -342.9 -342862 0.8 CEBPA HNF4A PKP4 UPP2-IT1 PTP4A1P1 UPP2
GH02I158213 Enhancer 1.1 Ensembl ENCODE 11.6 -242.4 -242369 1.4 ATF1 PKNOX1 FOXA2 ARNT ZNF133 ARID4B FEZF1 FOS ATF7 PPARG RN7SL393P CCDC148 PKP4 CCDC148-AS1 GC02P158160 HNRNPDLP2
GH02I158142 Enhancer 0.7 ENCODE 18 -313.0 -313021 1.9 MEIS2 TFAP4 ATF1 PKNOX1 TEAD4 JUN CEBPG FOSL1 ZNF766 NCOR1 PKP4 GALNT5 UPP2-IT1 GC02P158160
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PKP4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PKP4 gene promoter:

Genomic Locations for PKP4 Gene

Genomic Locations for PKP4 Gene
chr2:158,456,880-158,682,879
(GRCh38/hg38)
Size:
226,000 bases
Orientation:
Plus strand
chr2:159,313,476-159,539,391
(GRCh37/hg19)

Genomic View for PKP4 Gene

Genes around PKP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKP4 Gene

Proteins for PKP4 Gene

  • Protein details for PKP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99569-PKP4_HUMAN
    Recommended name:
    Plakophilin-4
    Protein Accession:
    Q99569
    Secondary Accessions:
    • Q86W91

    Protein attributes for PKP4 Gene

    Size:
    1192 amino acids
    Molecular mass:
    131868 Da
    Quaternary structure:
    • Interacts with PDZD2 (By similarity). Interacts (via the C-terminus) with FRMPD2 (via the PDZ 2 domain). Interacts with RHOA; the interaction is detected at the midbody. Interacts with ECT2; the interaction is detected at the midbody.
    SequenceCaution:
    • Sequence=CAA57478.1; Type=Erroneous termination; Positions=1193; Note=Translated as stop.; Evidence={ECO:0000305}; Sequence=CAA57478.1; Type=Frameshift; Positions=334, 337, 864, 874; Evidence={ECO:0000305};

    Alternative splice isoforms for PKP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PKP4 Gene

Post-translational modifications for PKP4 Gene

  • Ubiquitination at isoforms=2573, Lys611, isoforms=2683, and Lys1175
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PKP4 Gene

Domains & Families for PKP4 Gene

Gene Families for PKP4 Gene

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

Protein Domains for PKP4 Gene

Suggested Antigen Peptide Sequences for PKP4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99569

UniProtKB/Swiss-Prot:

PKP4_HUMAN :
  • Belongs to the beta-catenin family.
Family:
  • Belongs to the beta-catenin family.
genes like me logo Genes that share domains with PKP4: view

Function for PKP4 Gene

Molecular function for PKP4 Gene

UniProtKB/Swiss-Prot Function:
Plays a role as a regulator of Rho activity during cytokinesis. May play a role in junctional plaques.

Phenotypes From GWAS Catalog for PKP4 Gene

Gene Ontology (GO) - Molecular Function for PKP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12047349
genes like me logo Genes that share ontologies with PKP4: view
genes like me logo Genes that share phenotypes with PKP4: view

Animal Models for PKP4 Gene

MGI Knock Outs for PKP4:
  • Pkp4 tm1b(EUCOMM)Wtsi

miRNA for PKP4 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PKP4 Gene

Localization for PKP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKP4 Gene

Cell junction, desmosome. Cytoplasm, cytoskeleton, spindle. Midbody. Cell membrane; Peripheral membrane protein. Note=Associated with the pericentrosomal region in interphase and with spindle poles during mitosis. In anaphase, during chromosome segregation, is recruited to the central microtubule bundle, focussed at the spindle midzone and ultimately localizes to the midbody at cytokinesis. Constituent of the midbody cytoskeletal matrix. Colocalized with desmoplakin at desmosomal junctional plaques in cultured epithelial cells.

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 PKP4 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 3
cytosol 3

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PKP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 17115030
GO:0001533 cornified envelope TAS --
GO:0005737 cytoplasm IEA,IDA 22965878
GO:0005819 spindle IEA --
GO:0005856 cytoskeleton IDA,IEA 8937994
genes like me logo Genes that share ontologies with PKP4: view

Pathways & Interactions for PKP4 Gene

genes like me logo Genes that share pathways with PKP4: view

Pathways by source for PKP4 Gene

Gene Ontology (GO) - Biological Process for PKP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007043 cell-cell junction assembly ISS,IEA --
GO:0007155 cell adhesion IEA --
GO:0007267 cell-cell signaling NAS 8937994
GO:0030155 regulation of cell adhesion NAS 8937994
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with PKP4: view

No data available for SIGNOR curated interactions for PKP4 Gene

Drugs & Compounds for PKP4 Gene

No Compound Related Data Available

Transcripts for PKP4 Gene

Unigene Clusters for PKP4 Gene

Plakophilin 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PKP4 Gene

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

ExUns: 15d ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23
SP1:
SP2:
SP3:
SP4: - -
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10: - - -
SP11:

Relevant External Links for PKP4 Gene

GeneLoc Exon Structure for
PKP4
ECgene alternative splicing isoforms for
PKP4

Expression for PKP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PKP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKP4 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x10.2) and Brain - Substantia nigra (x4.6).

Protein differential expression in normal tissues from HIPED for PKP4 Gene

This gene is overexpressed in Plasma (18.2), Lung (10.2), and Frontal cortex (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PKP4 Gene



NURSA nuclear receptor signaling pathways regulating expression of PKP4 Gene:

PKP4

SOURCE GeneReport for Unigene cluster for PKP4 Gene:

Hs.407580

Evidence on tissue expression from TISSUES for PKP4 Gene

  • Nervous system(4.9)
  • Liver(4.2)
  • Kidney(2.6)
  • Heart(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with PKP4: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PKP4 Gene

Orthologs for PKP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for PKP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PKP4 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia PKP4 33 34
  • 94.38 (n)
cow
(Bos Taurus)
Mammalia PKP4 33 34
  • 94.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PKP4 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pkp4 33
  • 91.6 (n)
mouse
(Mus musculus)
Mammalia Pkp4 33 16 34
  • 91.48 (n)
oppossum
(Monodelphis domestica)
Mammalia PKP4 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves PKP4 33 34
  • 80.31 (n)
lizard
(Anolis carolinensis)
Reptilia PKP4 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pkp4 33
  • 75.05 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398570 33
zebrafish
(Danio rerio)
Actinopterygii pkp4 33 34
  • 62.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta p120ctn 35 34
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea jac-1 35 34
  • 34 (a)
Species where no ortholog for PKP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • 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 squirt (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)

Evolution for PKP4 Gene

ENSEMBL:
Gene Tree for PKP4 (if available)
TreeFam:
Gene Tree for PKP4 (if available)

Paralogs for PKP4 Gene

Paralogs for PKP4 Gene

Pseudogenes.org Pseudogenes for PKP4 Gene

genes like me logo Genes that share paralogs with PKP4: view

Variants for PKP4 Gene

Sequence variations from dbSNP and Humsavar for PKP4 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000020642 -- 158,530,664(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000028169 -- 158,664,716(+) T/G genic_downstream_transcript_variant, intron_variant
rs1000029744 -- 158,484,134(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000053153 -- 158,530,454(+) G/C/T genic_upstream_transcript_variant, intron_variant
rs1000059697 -- 158,497,735(+) A/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PKP4 Gene

Variant ID Type Subtype PubMed ID
esv21462 CNV gain 19812545
esv3302752 CNV tandem duplication 20981092
esv3560418 CNV deletion 23714750
esv3593079 CNV loss 21293372
nsv1143962 CNV deletion 24896259
nsv459885 CNV loss 19166990
nsv583442 CNV loss 21841781
nsv834434 CNV gain 17160897
nsv961901 CNV duplication 23825009

Variation tolerance for PKP4 Gene

Residual Variation Intolerance Score: 10.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.54; 55.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PKP4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PKP4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKP4 Gene

Disorders for PKP4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PKP4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
arrhythmogenic right ventricular cardiomyopathy
  • arrhythmogenic right ventricular dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search PKP4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PKP4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PKP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PKP4 Gene

Publications for PKP4 Gene

  1. Cloning and characterization of a new armadillo family member, p0071, associated with the junctional plaque: evidence for a subfamily of closely related proteins. (PMID: 8937994) Hatzfeld M … Nachtsheim C (Journal of cell science 1996) 2 3 4 22 58
  2. Identification and localization of a neurally expressed member of the plakoglobin/armadillo multigene family. (PMID: 9342840) Paffenholz R … Franke WW (Differentiation; research in biological diversity 1997) 2 3 22 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Protein p0071, an armadillo plaque protein of adherens junctions, is predominantly expressed in distal renal tubules. (PMID: 19830446) Walter B … Hofmann I (Histochemistry and cell biology 2010) 3 22 58
  5. PDZ-domain-directed basolateral targeting of the peripheral membrane protein FRMPD2 in epithelial cells. (PMID: 19706687) Stenzel N … Erdmann KS (Journal of cell science 2009) 3 4 58

Products for PKP4 Gene

Sources for PKP4 Gene

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