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Set Analyses:

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PKP2 Gene

protein-coding GIFtS: 66
GCID: GC12M032943

Plakophilin 2

See related diseases
at

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(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 2¹ ²
ARVD9² ⁵
plakophilin-2²

External Ids:	HGNC: 9024¹	Entrez Gene: 5318²	Ensembl: ENSG00000057294⁷	OMIM: 602861⁵	UniProtKB: Q99959³

Export aliases for PKP2 gene to outside databases

Previous GC identifers: GC12M033434 GC12M033020 GC12M032844 GC12M032835 GC12M032834 GC12M032696

(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 PKP2 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 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)

GeneCards Summary for PKP2 Gene:

PKP2 (plakophilin 2) is a protein-coding gene. Diseases associated with PKP2 include arrhythmogenic right ventricular dysplasia/cardiomyopathy 9, and arrhythmogenic right ventricular dysplasia 9. GO annotations related to this gene include protein complex scaffold and ion channel binding. An important paralog of this gene is PKP1.

UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959

Function: May play a role in junctional plaques

Gene Wiki entry for PKP2 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_000012.12 NC_018923.2 NT_009714.18

Regulatory elements:

Search for regulatory transcription factor binding sites for PKP2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PKP2 promoter sequence

Search Chromatin IP Primers for PKP2

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PKP2

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 (and/or Entrez Gene and/or Ensembl if different)
PKP2 gene location

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

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959 (See protein sequence)

Recommended Name: Plakophilin-2

Size: 881 amino acids; 97415 Da

Subunit: Interacts with DSC2. Interacts with JUP and DSP

1 PDB 3D structure from and Proteopedia for PKP2:

3TT9 (3D)

Secondary accessions: A0AV37 B8QFA1 B8QGS6 B8QGS7 D3DUW9 Q4VC01 Q99960

Alternative splicing: 2 isoforms: Q99959-1 Q99959-2 (Major isoform in heart)

Explore the universe of human proteins at neXtProt for PKP2: NX_Q99959

Explore proteomics data for PKP2 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See PKP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001005242.2 NP_004563.2

ENSEMBL proteins:

ENSP00000342800 ENSP00000070846

PKP2 Human Recombinant Protein Products:

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	Novus Biologicals PKP2 Lysate
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PKP2 Antibody Products:

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	Novus Biologicals PKP2 Antibodies
	Abcam antibodies for PKP2
	Cloud-Clone Corp. Antibodies for PKP2
	Search ThermoFisher Antibodies for PKP2
	LSBio Antibodies in human, mouse, rat for PKP2

PKP2 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for PKP2
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	GenScript Custom Assay Services for PKP2
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for PKP2 Cloud-Clone Corp. CLIAs for PKP2

(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

4 InterPro protein domains:

IPR011989 ARM-like

IPR000225 Armadillo

IPR028435 Plakophilin/d_Catenin

IPR016024 ARM-type_fold

Graphical View of Domain Structure for InterPro Entry Q99959

ProtoNet protein and cluster: Q99959

1 Blocks protein domain: IPB000225 Armadillo repeat

UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959

Similarity: Belongs to the beta-catenin family

Similarity: Contains 8 ARM repeats

PKP2 for domains About GeneDecksing

(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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: 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

Gene Ontology (GO): Selected molecular function terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0005080	protein kinase C binding	IPI	18474624
GO:0005488	binding	--	--
GO:0005515	protein binding	IPI	10852826
GO:0017080	sodium channel regulator activity	ISS	--

PKP2 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for PKP2:

Increased S DNA content

Increased gamma-H2AX phosphory

4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Pkp2):

cardiovascular system

homeostasis/metabolism

mortality/aging

muscle

PKP2 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Pkp2^tm1Wbm for PKP2

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PKP2

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PKP2

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PKP2

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PKP2

miRNA Products:		miRTarBase miRNAs that target PKP2: hsa-mir-186-5p (MIRT044957), hsa-mir-222-3p (MIRT046783), hsa-mir-34a-5p (MIRT025489), hsa-mir-744-5p (MIRT037616)

		Block miRNA regulation of human, mouse, rat PKP2 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate PKP2 (see all 15):
		hsa-miR-516b hsa-miR-181c hsa-miR-513a-3p hsa-miR-509-5p hsa-miR-181a hsa-miR-181d hsa-miR-7 hsa-miR-889

		SwitchGear 3'UTR luciferase reporter plasmid: PKP2 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for PKP2
		Predesigned siRNA for gene silencing in human, mouse, rat PKP2

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PKP2

Clone Products:		OriGene clones in human, mouse for PKP2 (see all 12) OriGene ORF clones in mouse, rat for PKP2 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)
		Sino Biological Human cDNA Clone for PKP2
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PKP2
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PKP2
		Browse ESI BIO Cell Lines and PureStem Progenitors for PKP2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKP2

(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

PKP2_HUMAN, Q99959: Nucleus. Cell junction, desmosome. Note=Nuclear and associated with desmosomes

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
plasma membrane	4
cytoskeleton	3
cytosol	3

About this image

Gene Ontology (GO): Selected cellular component terms (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	NAS	8922383
GO:0005730	NOT nucleolus	IDA	--
GO:0005882	intermediate filament	ISS	--
GO:0005886	plasma membrane	IDA	--
GO:0005911	cell-cell junction	ISS	--

PKP2 for ontologies About GeneDecksing

(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 PKP2 About

See pathways by source

SuperPath

Contained pathways About

Hypertrophic cardiomyopathy (HCM)

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

0.54

Arrhythmogenic right ventricular cardiomyopathy

0.54

Cytoskeleton remodeling Keratin filaments

Cytoskeleton remodeling Keratin filaments

Pathways by source See SuperPaths
Show all pathways

1 GeneGo (Thomson Reuters) Pathway for PKP2

Cytoskeleton remodeling Keratin filaments

1 BioSystems Pathway for PKP2

Arrhythmogenic right ventricular cardiomyopathy

1 Kegg Pathway (Kegg details for PKP2):

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

PKP2 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Array including PKP2:

Adherens Junctions in human mouse rat

Interactions:

GeneGlobe Interaction Network for PKP2

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

Selected Interacting proteins for PKP2 (Q99959^{2, 3} ENSP00000070846⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 69)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MARK3	P27448²^,³, ENSP00000411397⁴	MINT-16617 MINT-16618 I2D: score=2 STRING: ENSP00000411397
SMAD9	O15198²^,³	MINT-62092 I2D: score=3
SFN	P31947²^,³	MINT-3975132 I2D: score=2
YWHAZ	P63104²^,³, ENSP00000309503⁴	MINT-8006476 I2D: score=2 STRING: ENSP00000309503
DSC2	Q02487³, ENSP00000280904⁴	I2D: score=2 STRING: ENSP00000280904

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Gene Ontology (GO): Selected biological process terms (see all 20): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002159	desmosome assembly	IMP	18474624
GO:0007507	heart development	ISS	--
GO:0008285	negative regulation of cell proliferation	ISS	--
GO:0010765	positive regulation of sodium ion transport	ISS	--
GO:0016264	gap junction assembly	ISS	--

PKP2 for ontologies About GeneDecksing

(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 PKP2

(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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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

miRNA Products:		Block miRNA regulation of human, mouse, rat PKP2 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate PKP2 (see all 15):
		hsa-miR-516b hsa-miR-181c hsa-miR-513a-3p hsa-miR-509-5p hsa-miR-181a hsa-miR-181d hsa-miR-7 hsa-miR-889

		SwitchGear 3'UTR luciferase reporter plasmid: PKP2 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for PKP2
		Predesigned siRNA for gene silencing in human, mouse, rat PKP2

Clone Products:		OriGene clones in human, mouse for PKP2 (see all 12) OriGene ORF clones in mouse, rat for PKP2 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

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for PKP2
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat PKP2
		QuantiTect SYBR Green Assays in human, mouse, rat PKP2
		QuantiFast Probe-based Assays in human, mouse, rat PKP2

Additional mRNA 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

Selected AceView cDNA sequences (see all 166):

CF551781 AA115706 BI335875 CD723015 BF063284 BF000586 AU125826 AA699376

N56027 AI039176 W86622 AL710066 BG741709 AI871702 AL601426 BM696242

C00798 BC070083 BG288041 AI673678 BE540524 AU126827 T69752 AW439621

GeneLoc Exon Structure

Selected 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

(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 Genevestigator, and/or 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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PKP2 expression in normal human tissues (normalized intensities) PKP2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTGAAGAAGA

About this image

PKP2 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 7) fully expand


Skeletal Muscle (Muscoskeletal System) fully expand to see all 2 entries
Muscle Progenitor Cells Mandibular Arch Muscles

Heart (Cardiovascular System)
Cardiac Fibroblasts Myocardium

Fibroblasts
Cardiac Fibroblasts Myocardium

Adipose (Muscoskeletal System)
Visceral White Adipose

Bone (Muscoskeletal System)
Zeugopod Periosteum

PKP2 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

PKP2 Protein Expression

Genevestigator expression for PKP2

SOURCE GeneReport for Unigene cluster: Hs.164384

UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959

Tissue specificity: Detected in heart right ventricle (at protein level). Widely expressed. Found at desmosomal

plaques in simple and stratified epithelia and in non-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

Pathway & Disease-focused RT² Profiler PCR Array including PKP2:

Adherens Junctions in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for PKP2
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat PKP2
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		QuantiFast Probe-based Assays in human, mouse, rat PKP2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKP2

(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 chordates.

Orthologs for PKP2 gene from Selected species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pkp2^{1 , 5}	plakophilin 2^{1, 5}	81.13(n)¹ 82.64(a)¹		16 (10.09 cM)⁵ 67451¹ NM_026163.2¹ NP_080439.1¹ 16213318⁵
chicken (Gallus gallus)	Aves	PKP2¹	plakophilin 2	67.07(n) 63.43(a)		418130 XM_416362.4 XP_416362.4
lizard (Anolis carolinensis)	Reptilia	PKP2⁶	plakophilin 2	56(a)	1 ↔ 1	5(10084262-10129441)
tropical clawed frog (Xenopus tropicalis)	Amphibia	pkp2¹	plakophilin 2	59.19(n) 54.79(a)		100124891 NM_001102842.1 NP_001096312.1
zebrafish (Danio rerio)	Actinopterygii	pkp2¹	plakophilin 2	50.13(n) 40.77(a)		568060 NM_001113433.1 NP_001106904.1

ENSEMBL Gene Tree for PKP2 (if available)
TreeFam Gene Tree for PKP2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for PKP2 gene

PKP1² CTNND1² PKP3² CTNND2² ARVCF² PKP4²

5 SIMAP similar genes for PKP2 using alignment to 3 protein entries: PKP2_HUMAN (see all proteins):

PFKM BIRC5 DKFZp666K083 OK/SW-cl.18 PKP1

PKP2 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for PKP2
PGOHUM00000239632

(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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SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_021150⁴		Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)⁴	--	see VAR_021150	2	K Q	mis⁴		0	--	--	--	--
VAR_065716⁴		Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)⁴	--	see VAR_065716	2	Y C	mis⁴		0	--	--	--	--
VAR_065711⁴		Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)⁴	--	see VAR_065711	2	F S	mis⁴		0	--	--	--	--
VAR_065718⁴		Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)⁴	--	see VAR_065718	2	L F	mis⁴		0	--	--	--	--
VAR_021151⁴		Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)⁴	--	see VAR_021151	2	C R	mis⁴		0	--	--	--	--
VAR_065705⁴		Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)⁴	--	see VAR_065705	2	E K	mis⁴		0	--	--	--	--
VAR_065706⁴		Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)⁴	--	see VAR_065706	2	S G	mis⁴		0	--	--	--	--
VAR_021149⁴		Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)⁴	--	see VAR_021149	2	S F	mis⁴		0	--	--	--	--
rs146102241^1,2,,4	C,F	probable-non-pathogenic¹	32844443(+)	`ATGGAC/TCAGTG`	4	I V	mis¹		2		NA EU	5873
rs151212477^1,2	C	untested¹	32863553(+)	`GTCTCA/GAACTC`	3	R *	int¹ stg¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PKP2 (32943679 - 33049780 bp)

Structural Variations
Database of Genomic Variants (DGV) 8 variations for PKP2: About this table

Variant ID	Type	Subtype	PubMed ID
esv2745751	CNV	Deletion	23290073
esv4479	CNV	Deletion	18987735
esv1043456	CNV	Deletion	17803354
esv2485280	CNV	Deletion	19546169
esv2745753	CNV	Deletion	23290073
esv8190	CNV	Loss	19470904
nsv526287	CNV	Loss	19592680
nsv516937	CNV	Loss	19592680

Human Gene Mutation Database (HGMD): PKP2
Locus Specific Mutation Databases (LSDB): PKP2

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing PKP2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602861
OMIM disorders: 609040
UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959

Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]: A congenital heart disease

characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial

cells, resulting in ventricular and supraventricular arrhythmias. Note=The disease is caused by mutations

affecting the gene represented in this entry

Selected diseases for PKP2 (see all 24): About MalaCards

arrhythmogenic right ventricular dysplasia/cardiomyopathy 9 arrhythmogenic right ventricular dysplasia 9 naxos disease branchiooculofacial syndrome

arrhythmogenic right ventricular dysplasia familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial isolated arrhythmogenic ventricular dysplasia, right dominant form

brugada syndrome palmoplantar keratosis arachnoiditis autosomal dominant disease

keratosis ectodermal dysplasia atopic dermatitis coronary heart disease

dermatitis meningioma squamous cell carcinoma hepatocellular carcinoma

3 diseases from the University of Copenhagen DISEASES database for PKP2:

Arrhythmogenic right ventricular dysplasia Branchiooculofacial syndrome Palmoplantar keratosis

PKP2 for disorders About GeneDecksing

6 Novoseek inferred disease relationships for PKP2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
arrhythmogenic right ventricular dysplasia	94.2	20	16567567 (2), 17010805 (2), 16893920 (2), 17041889 (1) (see all 15)
naxos disease	86.8	1	16893920 (1)
cardiomyopathy	71.5	12	16567567 (2), 18261826 (2), 17010805 (2), 17413274 (1) (see all 7)
carcinoma squamous cell	4.45	1	10374264 (1)
tumors	0	12	12827610 (3), 19551809 (2), 10374264 (1)
carcinoma	0	2	10374264 (1), 8922383 (1)

GeneTests: PKP2
GeneReviews: PKP2
Genetic Association Database (GAD): PKP2
Human Genome Epidemiology (HuGE) Navigator: PKP2 (11 documents)

Export disorders for PKP2 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 PKP2 gene, integrated from 10 sources (see all 111):
(articles sorted by number of sources associating them with PKP2)

Utopia: connect your pdf to the dynamic
world of online information

Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients -- disease-causing or innocent bystanders? (PubMed id 19955750)^{1, 2, 4, 9} Christensen A.H....Svendsen J.H. (Cardiology 2010)
Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. (PubMed id 8922383)^{1, 2, 3, 9} Mertens C.... Franke W.W. (J. Cell Biol. 1996)
Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 20031617)^{1, 2, 4, 9} den Haan A.D.... Judge D.P. (Circ. Cardiovasc. Genet. 2009)
Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PubMed id 19863551)^{1, 2, 4} Barahona-Dussault C.... Brugada R. (Clin. Genet. 2010)
Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 19427443)^{1, 4, 9} Qiu X....Zhang L. (Am. J. Cardiol. 2009)
Desmosomal plakophilin 2 as a differentiation marker in normal and malignant tissues. (PubMed id 10374264)^{1, 2, 9} Mertens C.... Franke W.W. (Differentiation 1999)
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. (PubMed id 20031616)^{1, 4, 9} Bhuiyan Z.A....van Tintelen J.P. (Circ Cardiovasc Genet 2009)
Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy. (PubMed id 19302745)^{1, 4, 9} Wu S.L....Deng M. (Chin. Med. J. 2009)
Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa. (PubMed id 19880068)^{1, 4, 9} Watkins D.A....Mayosi B.M. (Heart Rhythm 2009)
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. (PubMed id 15489853)^{1, 2, 9} Gerull B....Thierfelder L. (Nat. Genet. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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: 5318	HGNC: 9024	AceView: PKP2	Ensembl:ENSG00000057294	euGenes: HUgn5318
ECgene: PKP2	Kegg: 5318	H-InvDB: PKP2

(According to HUGE)
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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)
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Name	Description
PharmGKB entry for PKP2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PKP2[genesymbol]

Intellectual Property for PKP2 gene
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Patent Information for PKP2 gene:
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GeneCards and IP:
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