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PKP4 Gene

protein-coding   GIFtS: 60
GCID: GC02P159313

Plakophilin 4

  Search for PKP4
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Plakophilin 41 2
p00712 3
Catenin 42
plakophilin-42

External Ids:    HGNC: 90261   Entrez Gene: 85022   Ensembl: ENSG000001442837   OMIM: 6042765   UniProtKB: Q995693   

Export aliases for PKP4 gene to outside databases

Previous GC identifers: GC02P157245 GC02P157842 GC02P159277 GC02P159515 GC02P159484 GC02P159138 GC02P159021 GC02P151277


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 have been found for this gene, but the full-length nature of only two of
them have been described so far. These two variants encode distinct isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for PKP4 Gene:
PKP4 (plakophilin 4) is a protein-coding gene. An important paralog of this gene is PKP1.

UniProtKB/Swiss-Prot: PKP4_HUMAN, Q99569
Function: Plays a role as a regulator of Rho activity during cytokinesis. May play a role in junctional plaques

Gene Wiki entry for PKP4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the PKP4 gene promoter:
         Elk-1   p53   HNF-4alpha2   CUTL1   HNF-4alpha1   PPAR-gamma1   FAC1   CP1A   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPKP4 promoter sequence
   Search Chromatin IP Primers for PKP4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PKP4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q24.1   Ensembl cytogenetic band:  2q24.1   HGNC cytogenetic band: 2q24.1

PKP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PKP4 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P159313:  view genomic region     (about GC identifiers)

Start:
159,313,476 bp from pter      End:
159,539,391 bp from pter
Size:
225,916 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PKP4_HUMAN, Q99569 (See protein sequence)
Recommended Name: Plakophilin-4  
Size: 1192 amino acids; 131868 Da
Subunit: 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
Sequence caution: Sequence=CAA57478.1; Type=Erroneous termination; Positions=1193; Note=Translated as stop;
Sequence=CAA57478.1; Type=Frameshift; Positions=334, 337, 864, 874;
Secondary accessions: Q86W91
Alternative splicing: 2 isoforms:  Q99569-1   Q99569-2   

Explore the universe of human proteins at neXtProt for PKP4: NX_Q99569

Explore proteomics data for PKP4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys518, Lys573, Lys611, Lys683, Lys1175
  • Modification sites at PhosphoSitePlus

  • See PKP4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001005476.1  NP_003619.2  

    ENSEMBL proteins: 
     ENSP00000396827   ENSP00000374407   ENSP00000374409   ENSP00000391658   ENSP00000407218  
     ENSP00000392515   ENSP00000393872   ENSP00000437815  

    PKP4 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PKP4

     
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    Search eBioscience for ELISAs for PKP4 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARMC: Armadillo repeat containing

    5 InterPro protein domains:
     IPR011989 ARM-like
     IPR000225 Armadillo
     IPR028443 Plakophilin-4
     IPR028435 Plakophilin/d_Catenin
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q99569

    ProtoNet protein and cluster: Q99569

    1 Blocks protein domain: IPB000225 Armadillo repeat

    UniProtKB/Swiss-Prot: PKP4_HUMAN, Q99569
    Similarity: Belongs to the beta-catenin family
    Similarity: Contains 9 ARM repeats


    Find genes that share domains with PKP4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PKP4_HUMAN, Q99569
    Function: Plays a role as a regulator of Rho activity during cytokinesis. May play a role in junctional plaques

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI12047349
         
    Find genes that share ontologies with PKP4           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PKP4:
     Increased HPV18 LCR reporter a 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Pkp4):
     normal 

    Find genes that share phenotypes with PKP4           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PKP4
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    miRNA
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    hsa-mir-192-5p (MIRT026600), hsa-mir-215-5p (MIRT024827)

    Block miRNA regulation of human, mouse, rat PKP4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PKP4 (see all 21):
    hsa-miR-3942-5p hsa-miR-449a hsa-miR-218 hsa-miR-192 hsa-miR-371-5p hsa-miR-641 hsa-miR-3613-3p hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidPKP4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PKP4

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    GenScript: all cDNA clones in your preferred vector (see all 2): PKP4 (NM_001005476)
    Browse Sino Biological Human cDNA Clones
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    eBioscience FlowRNA Probe Sets ( VA1-12406) for PKP4 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PKP4_HUMAN, Q99569: Cell junction, desmosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle
    pole. 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: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol3
    nucleus3

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IDA17115030
    GO:0005737cytoplasm IDA--
    GO:0005856cytoskeleton IDA8937994
    GO:0005886plasma membrane IDA8937994
    GO:0005911cell-cell junction IDA8937994

    Find genes that share ontologies with PKP4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PKP4 About    
    See pathways by source

    SuperPathContained pathways About
    1Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Endothelial cell contacts by junctional mechanisms

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for PKP4
        Cell adhesion Endothelial cell contacts by junctional mechanisms


        Pathway & Disease-focused RT2 Profiler PCR Arrays including PKP4: 
              Adherens Junctions in human mouse rat
              Alzheimer's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PKP4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for PKP4 (Q995691, 2, 3 ENSP000003744094) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2IPQ96RT11, 2, 3, ENSP000003703304EBI-726447,EBI-993903 MINT-1773305 MINT-1773355 MINT-1777626 MINT-1778254 MINT-1777568 MINT-1777596 I2D: score=5 STRING: ENSP00000370330
    PSEN1P497682, 3, ENSP000003263664MINT-14193 MINT-14192 MINT-14194 I2D: score=5 STRING: ENSP00000326366
    OSGEPQ9NPF42, 3, ENSP000002065424MINT-8265216 I2D: score=2 STRING: ENSP00000206542
    GABARAPO951662, 3MINT-65281 I2D: score=4 
    DSPP159242, 3, ENSP000003691294MINT-1792815 I2D: score=4 STRING: ENSP00000369129
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007043cell-cell junction assembly ISS--
    GO:0007267cell-cell signaling NAS8937994
    GO:0010628positive regulation of gene expression ISS--
    GO:0016337cell-cell adhesion IEA--
    GO:0030155regulation of cell adhesion NAS8937994

    Find genes that share ontologies with PKP4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PKP4



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PKP4 gene (2 alternative transcripts): 
    NM_001005476.1  NM_003628.3  

    Unigene Cluster for PKP4:

    Plakophilin 4
    Hs.407580  [show with all ESTs]
    Unigene Representative Sequence: NM_003628
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426248(uc002tzt.1 uc002tzu.3) ENST00000389757(uc002tzw.3)
    ENST00000389759(uc002tzz.1 uc002tzv.3 uc002tzx.3 uc002uaa.3)
    ENST00000457109 ENST00000479398 ENST00000452162 ENST00000411900 ENST00000421462(uc002tzy.1)
    ENST00000462335 ENST00000481115 ENST00000494945 ENST00000492496 ENST00000480171(uc002uac.3)
    ENST00000495123 ENST00000483881 ENST00000486254(uc002uae.1)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PKP4 (see all 21):
    hsa-miR-3942-5p hsa-miR-449a hsa-miR-218 hsa-miR-192 hsa-miR-371-5p hsa-miR-641 hsa-miR-3613-3p hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidPKP4 3' UTR sequence
    Inhib. RNA
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    OriGene ORF clones in mouse, rat for PKP4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PKP4 (NM_001005476)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PKP4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PKP4
    Primer
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    eBioscience FlowRNA Probe Sets ( VA1-12406) for PKP4 

    Additional mRNA sequence: 

    AK054911.1 AK055015.1 AK055823.1 AK124237.1 AK128720.1 AL050364.1 BC034473.1 BC041163.1 
    BC048013.1 BC050308.1 U60472.1 U81005.1 X81889.1 

    Selected DOTS entries (see all 26):

    DT.100795947  DT.453867  DT.101984212  DT.100795949  DT.75188951  DT.97831360  DT.91796778  DT.101984211 
    DT.97780913  DT.97789520  DT.91987891  DT.404991  DT.120978118  DT.99989460  DT.100754494  DT.100795941 
    DT.100795943  DT.100795946  DT.120978037  DT.40108784  DT.91797036  DT.97848190  DT.120977956  DT.40301228 

    Selected AceView cDNA sequences (see all 336):

    AL045011 BP349650 CA395824 BM710158 F06685 BM853667 BM825389 BX282142 
    AU126185 AA417386 BU844697 BG742943 CD672057 AL045003 BU184189 AA319100 
    BF725147 AA503096 BC034473 BQ082164 CA391312 AA864873 BU158735 D17102 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PKP4 (see all 11)    About this scheme

    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:                                                                                                                                                            

    ExUns: 15d ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23
    SP1:                                                                              
    SP2:                                                                              
    SP3:                                                                              
    SP4:                    -                                         -               
    SP5:                                                        -     -               


    ECgene alternative splicing isoforms for PKP4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PKP4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCATTCCTC
    PKP4 Expression
    About this image


    PKP4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Glycinergic Amacrine Cells Inner Nuclear Layer
             Retina
     
     Neurons
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Thyroid (Endocrine System)
     
     Kidney (Urinary System)
    PKP4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PKP4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.407580
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PKP4: 
              Adherens Junctions in human mouse rat
              Alzheimer's Disease in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKP4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PKP4 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pkp41 , 5 plakophilin 41, 5 91.48(n)1
    96.64(a)1
      2 (33.52 cM)5
    2279371  NM_026361.21  NP_080637.11 
     591608505 
    chicken
    (Gallus gallus)
    Aves PKP41 plakophilin 4 80.31(n)
    89.81(a)
      424328  NM_001006529.1  NP_001006529.1 
    lizard
    (Anolis carolinensis)
    Reptilia PKP46
    plakophilin 4
    89(a)
    1 ↔ 1
    GL343379.1(602515-750015)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3985702 similar to plakophilin 4 76.4(n)    BC048023.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pkp41 plakophilin 4 62.75(n)
    66.64(a)
      561566  XM_005165847.1  XP_005165904.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta p120ctn3   -- 49(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea jac-13   -- 34(a)   IV(15998290-16017650)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PKP4 gene
    PKP12  CTNND12  PKP22  PKP32  CTNND22  ARVCF2  
    5 SIMAP similar genes for PKP4 using alignment to 8 protein entries:     PKP4_HUMAN (see all proteins):
    ps1ly2h-25    CTNND2    CTNND1    DKFZp781O2021    ARVCF

    Find genes that share paralogs with PKP4           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PKP4
    PGOHUM00000241096


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PKP4 (see all 4314)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs720084131,2
    C--158753021(+) AAAAA-/ACAACAA 2 -- int10--------
    rs2012827801,2
    C--159315447(+) AAAAA-/ATAAAT 2 -- int10--------
    rs1856135601,2
    --159315616(+) TTTTTA/GTTTTT 2 -- int10--------
    rs2001630231,2
    --159315701(+) GTGAA-/ACAGTTA 2 -- int10--------
    rs1896823041,2
    --159315720(+) TGGCAA/GCATGA 2 -- int10--------
    rs168429521,2
    C,F,H--159315740(+) CAACTA/GATGTC 2 -- int19Minor allele frequency- G:0.05NA NS EA WA 798
    rs15490861,2
    C,F,O,H--159315764(+) TCTGGA/GTGTTG 2 -- int126Minor allele frequency- G:0.07MN NS EA NA WA CSA 2540
    rs1379466361,2
    C--159315779(+) GCATC-/ATATGTG 2 -- int10--------
    rs1823546801,2
    --159315779(+) GCATCA/GTATGT 2 -- int10--------
    rs1866653931,2
    --159315803(+) ACACAA/GTTTGC 2 -- int10--------

    HapMap Linkage Disequilibrium report for PKP4 (159313476 - 159539391 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for PKP4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv875330CNV Loss21882294
    nsv875329CNV Loss21882294
    dgv4349n71CNV Loss21882294
    nsv459885CNV Loss19166990
    esv21462CNV Gain19812545
    nsv834434CNV Gain17160897
    esv259726OTHER Complex20981092

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PKP4
    DNA2.0 Custom Variant and Variant Library Synthesis for PKP4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 604276    OMIM disorders: --


    Find genes that share disorders with PKP4           About GenesLikeMe

    Genetic Association Database (GAD): PKP4
    Human Genome Epidemiology (HuGE) Navigator: PKP4 (2 documents)

    Export disorders for PKP4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PKP4 gene, integrated from 10 sources (see all 68):
    (articles sorted by number of sources associating them with PKP4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a new armadillo family member, p0071, associated with the junctional plaque: evidence for a subfamily of closely related proteins. (PubMed id 8937994)1, 2, 3, 9 Hatzfeld M. and Nachtsheim C. (J. Cell Sci. 1996)
    2. Identification and localization of a neurally expressed member of the plakoglobin/armadillo multigene family. (PubMed id 9342840)1, 3, 9 Paffenholz R. and Franke W.W. (Differentiation 1997)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. PDZ-domain-directed basolateral targeting of the peripheral membrane protein FRMPD2 in epithelial cells. (PubMed id 19706687)1, 2 Stenzel N.... Erdmann K.S. (J. Cell Sci. 2009)
    5. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PubMed id 18649358)1, 4 Ng D....Taylor P.R. (Int. J. Cancer 2008)
    6. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (Proteomics 2007)
    7. The armadillo protein p0071 regulates Rho signalling during cytokinesis. (PubMed id 17115030)1, 2 Wolf A.... Hatzfeld M. (Nat. Cell Biol. 2006)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    9. Targeting of p0071 to the midbody depends on KIF3. (PubMed id 19339549)1, 9 Keil R....Hatzfeld M. (J. Cell. Sci. 2009)
    10. Targeting of p0071 to desmosomes and adherens junctions is mediated by different protein domains. (PubMed id 12615965)1, 9 Hatzfeld M....Sauter H. (J. Cell. Sci. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8502 HGNC: 9026 AceView: PKP4 Ensembl:ENSG00000144283 euGenes: HUgn8502
    ECgene: PKP4 H-InvDB: PKP4

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PKP4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PKP4 gene:
    Search GeneIP for patents involving PKP4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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