PKP2 Gene
protein-coding GIFtS : 64 GCID: GC12 M032943
plakophilin 2
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Aliasesfor PKP2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Plakophilin 2 1 2 ARVD92 5 Plakophilin-21
Export aliases for PKP2 gene to outside databases Previous GC identifers: GC12M033434 GC12M033020 GC12M032844 GC12M032835 GC12M032834 GC12M032696
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Summariesfor PKP2 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for PKP2 : 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 gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959 Function : May play a role in junctional plaquesGene Wiki entry for PKP2
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Genomic Viewsfor PKP2 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000012.11 NC_018923.1 NT_009714.17 Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for PKP2 Other transcription factors Search SABiosciences Chromatin IP Primers for PKP2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 12p11 Ensembl cytogenetic band: 12p11.21 HGNC cytogenetic band: 12p11 PKP2 Gene in genomic location: bands according to Ensembl, locations according to
Entrez Gene Ensembl GeneLoc information about chromosome 12 GeneLoc Exon Structure
GeneLoc location for GC12M032943: view genomic region
(about GC identifiers )
Start: 32,943,679 bp from pter End:
33,049,780 bp from pter
Size: 106,102 bases Orientation:
minus strand
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Proteinsfor PKP2 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
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 , and/or
Uscn ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959 See
protein sequence )Recommended Name: Size : 881 amino acids; 97415 DaSubunit : Interacts with DSC2Subcellular location : Nucleus. Cell junction, desmosome. Note=Nuclear and associated with desmosomes1 PDB 3D structure from :3TT9 (3D) Secondary accessions : A0AV37 D3DUW9 Q4VC01 Q99960Alternative splicing : 2 isoforms : Q99959-1 Q99959-2 Explore the universe of human proteins at neXtProt for PKP2: NX_Q99959 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q99959 PKP2 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins (2 alternative transcripts): NP_001005242.2 NP_004563.2 ENSEMBL proteins: ENSP00000342800 ENSP00000070846 Human Recombinant Protein Products: Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8 ): About this table
About GeneDecksing PKP2 Antibody Products: Assay Products for PKP2:
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Protein
Domains /for PKP2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section About GeneDecksing 3 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q99959 ProtoNet protein and cluster: Q99959
1 Blocks protein family : IPB000225 UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959 Similarity : Belongs to the beta-catenin familySimilarity : Contains 8 ARM repeats
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Functionfor PKP2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959 Function : May play a role in junctional plaques
Genatlas biochemistry entry for PKP2 plakophilin 2,component of karyoplasm and desmosomal plaque protein of desmosomes in stratified epithelia,also expressed in the nucleus of non epithelial cells, homologous to Drosophila Armadillo segment polarity gene Clone Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 4 )human mouse rat see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): PKP2 (NM_004572 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PKP2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat PKP2
In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKP2
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7 ): About this table
About GeneDecksing 2 GenomeRNAi human phenotypes for PKP2 :Animal Models: Pkp2 tm1Wbm for PKP24 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pkp2) :About GeneDecksing
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Pathways & Interactionsfor PKP2 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways About this table See pathways by source Super-pathway contained gene-specific pathways 1 Arrhythmogenic right ventricular cardiomyopathy (ARVC) 2 Cytoskeleton remodeling Keratin filaments
Pathway sources See GeneCards unified pathways Show all pathways 1 1 1 1 (Kegg details for PKP2) :About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PKP2 STRING Interaction
Network Preview (showing 5 interactants - click image to see 18)5/69 Interacting proteins for PKP2 (Q99959 2 , 3 ENSP00000070846 4 via UniProtKB, MINT, STRING , and/or I2D (see all 69 )About this table Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20 ): About this table
About GeneDecksing
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Drugs & Compoundsfor PKP2 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section Browse Tocris compounds for PKP2 PKP2
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Transcriptsfor PKP2 gene (Secondary structures according to
fRNAdb ,Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for PKP2 gene (2 alternative transcripts): NM_001005242.2 NM_004572.3 Unigene Cluster for PKP2:
Plakophilin 2 Hs.164384 [show with all ESTs ] Unigene Representative Sequence: NM_004572 7 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000340811 (uc001rlj.4 uc001rlk.4 uc010skj.2 ) ENST00000070846 ENST00000546769 ENST00000549461 ENST00000552612 ENST00000546498 ENST00000546741 Clone OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 4 )human mouse rat see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): PKP2 (NM_004572 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PKP2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat PKP2
Additional cDNA sequence: AK299139.1 BC070083.1 BC094762.1 BC126199.1 BC143966.1 BC143967.1 EU520483.1 EU520484.1 EU520485.1 EU520486.1 X97675.1
9 DOTS entries : DT.97773851 DT.448183
DT.40300054 DT.95335949 DT.86841173 DT.100653530 DT.75141910 DT.95213314 DT.97802710 24/166 AceView cDNA sequences (see all 166 ):
CF551781 AU125826 N56027 AI039176 AA115706 BF063284 BF000586 AA699376 W86622 AL710066 CD723015 BI335875 BE540524 CF552987 BF230076 BE540361 BI335853 AW361877 NM_004572 BF000080 CD110034 AW779603 AI627927 AW085912 GeneLoc Exon Structure 5/6 Alternative Splicing Database (ASD) splice patterns (SP) for PKP2 (see all 6 ) About this scheme ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b SP1 : - - - - SP2 : - - - - - SP3 : - SP4 : SP5 :
ECgene alternative splicing isoforms for PKP2
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Expression for PKP2 gene
(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™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section PKP2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TTGAAGAAGA
About this image PKP2 expression in embryonic tissues and stem cells About this table 1 LifeMap In Vivo Development Anatomical Compartment/CellTissue Category (developmental path) Bone Zeugopod Periosteum Bone Expression: Experimental details:
In-situ hybridization
Stem Cell Differentiation: 2 LifeMap Cells Name Category PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
See PKP2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for PKP2 SOURCE GeneReport for Unigene cluster: Hs.164384 UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959 Tissue specificity : Widely expressed. Found at desmosomal plaques in simple and stratified epithelia and innon-epithelial tissues such as myocardium and lymph node follicles. In most stratified epithelia found in the desmosomes of the basal cell layer and seems to be absent from suprabasal strata SABiosciences Expression via Pathway-Focused PCR Array including PKP2 : Primer OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKP2
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Orthologsfor PKP2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for PKP2 gene from 5/18 species (see all 18 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
chicken Aves PKP21
plakophilin 2
67.03(n) 63.43(a)
418130 XM_416362.3 XP_416362.3
lizard Reptilia PKP26
--
52(a)
1 ↔ 1
5(10084771-10126617)
zebrafish Actinopterygii pkp21
plakophilin 2
50.11(n) 41.22(a)
568060 NM_001113433.1 NP_001106904.1
fruit fly Insecta p120ctn6
Adherens junction protein p120
20(a)
1 → many
2R(482798-496995)
worm Secernentea jac-16
Juxtamembrane domain-associated catenin
13(a)
1 → many
IV(15997633-16026815)
ENSEMBL Gene Tree for PKP2 (if available)TreeFam Gene Tree for PKP2 (if available)
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Paralogsfor PKP2 gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for PKP2 gene CTNND1 2 PKP1 2 PKP3 2 CTNND2 2 ARVCF 2 PKP4 2 6 SIMAP similar genes for PKP2 using alignment to 6 protein entries: PKP2_HUMAN (see all proteins ):PFKM BIRC5 DKFZp666K083 OK/SW-cl.18 HLA-DRB1 PKP1 About GeneDecksing 1 Pseudogenes.org Pseudogene for PKP2 PGOHUM00000239632
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Genomic Variantsfor PKP2 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , 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) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr 12 pos Sequence # AA Type More # Allele Pop Total More
and Proteopedia 
for PKP2:
Browse Tocris compounds for 
Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine 
Anatomical Compartment 
Negative
Selective marker
Curated
In-situ hybridization