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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 Cell adhesion_Endothelial cell contacts by junctional mechanisms and Developmental Biology. 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

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

Genomics for PKP4 Gene

Regulatory Elements for PKP4 Gene

Enhancers for PKP4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F158113 1 FANTOM5 Ensembl 37.2 -342.9 -342862 0.8 OSR2 ZNF263 CEBPA SIN3A ZNF600 PRDM1 ZBTB17 PKP4 UPP2-IT1 PTP4A1P1
GH02F158126 0.5 ENCODE 28.6 -327.0 -326956 6.4 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 ZNF143 PAF1 ZNF263 PKP4 GALNT5 UPP2-IT1 GC02P158160
GH02F158142 0.7 Ensembl ENCODE 26.6 -313.4 -313394 2.7 PKNOX1 ATF1 ZFP64 ARID4B RARA ZNF121 SCRT2 FOS CREM THAP11 PKP4 GALNT5 UPP2-IT1 GC02P158160
GH02F158477 0.6 Ensembl 18.4 +20.7 20721 0.8 PKP4 CCDC148 RN7SL393P RPL7AP22
GH02F158510 0.5 Ensembl 17.7 +53.6 53621 1.0 MAFG JUND ZNF316 FOS ZNF24 NFE2 EMSY SPI1 PKP4 CCDC148 RN7SL393P PKP4-AS1 OR7E28P RPL7AP22
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PKP4 on UCSC Golden Path with GeneCards custom track

Promoters for PKP4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000600846 1120 3601 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS KLF13

Genomic Location for PKP4 Gene

Chromosome:
2
Start:
158,456,880 bp from pter
End:
158,682,879 bp from pter
Size:
226,000 bases
Orientation:
Plus strand

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 Lys 573, Lys 611, Lys 683, and Lys 1175
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PKP4 Gene

Domains & Families for PKP4 Gene

Gene Families for PKP4 Gene

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.
  • Contains 9 ARM repeats.
Family:
  • Belongs to the beta-catenin family.
Similarity:
  • Contains 9 ARM repeats.
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.

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

Animal Model Products

miRNA for PKP4 Gene

miRTarBase miRNAs that target PKP4

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for PKP4 Gene COMPARTMENTS Subcellular localization image for PKP4 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for PKP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 17115030
GO:0005737 cytoplasm IEA,IDA 22965878
GO:0005819 spindle IEA --
GO:0005856 cytoskeleton IEA,IDA 8937994
GO:0005886 plasma membrane IEA,IDA 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

1 Reactome pathway for PKP4 Gene
1 GeneGo (Thomson Reuters) pathway 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 IEA,ISS --
GO:0007155 cell adhesion IEA --
GO:0007267 cell-cell signaling NAS 8937994
GO:0016337 single organismal cell-cell adhesion IEA --
GO:0030155 regulation of cell adhesion NAS 8937994
genes like me logo Genes that share ontologies with PKP4: view

No data available for SIGNOR curated interactions for PKP4 Gene

Transcripts for PKP4 Gene

Unigene Clusters for PKP4 Gene

Plakophilin 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with PKP4: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia PKP4 34 35
  • 94.38 (n)
cow
(Bos Taurus)
Mammalia PKP4 34 35
  • 94.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PKP4 35
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pkp4 34
  • 91.6 (n)
mouse
(Mus musculus)
Mammalia Pkp4 34 16 35
  • 91.48 (n)
oppossum
(Monodelphis domestica)
Mammalia PKP4 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves PKP4 34 35
  • 80.31 (n)
lizard
(Anolis carolinensis)
Reptilia PKP4 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pkp4 34
  • 75.05 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398570 34
zebrafish
(Danio rerio)
Actinopterygii pkp4 34 35
  • 62.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta p120ctn 36 35
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea jac-1 36 35
  • 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 Sequence Context AA Info Type
rs1010332 -- 158,656,485(+) CCTGA(C/T)TCAGA intron-variant, nc-transcript-variant
rs1010333 -- 158,656,720(+) AGCAC(A/G)TGGAC intron-variant, nc-transcript-variant
rs1010334 -- 158,659,185(+) CATTG(A/C)GACAG intron-variant, nc-transcript-variant
rs10165800 -- 158,648,783(+) cactc(A/G)aggtc intron-variant, upstream-variant-2KB
rs10168054 -- 158,557,287(+) CTTAC(A/C)TGAGT 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)

Relevant External Links for PKP4 Gene

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

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

Relevant External Links for PKP4

Genetic Association Database (GAD)
PKP4
Human Genome Epidemiology (HuGE) Navigator
PKP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PKP4
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. (J. Cell Sci. 1996) 2 3 4 22 64
  2. Identification and localization of a neurally expressed member of the plakoglobin/armadillo multigene family. (PMID: 9342840) Paffenholz R. … Franke W.W. (Differentiation 1997) 2 3 22 64
  3. Protein p0071, an armadillo plaque protein of adherens junctions, is predominantly expressed in distal renal tubules. (PMID: 19830446) Walter B. … Hofmann I. (Histochem. Cell Biol. 2010) 3 22 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. PDZ-domain-directed basolateral targeting of the peripheral membrane protein FRMPD2 in epithelial cells. (PMID: 19706687) Stenzel N. … Erdmann K.S. (J. Cell Sci. 2009) 3 4 64

Products for PKP4 Gene

Sources for PKP4 Gene

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