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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PKP2 Gene

protein-coding GIFtS: 64
GCID: GC12M032943

plakophilin 2

Explore 16 diseases affiliated with
PKP2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Plakophilin 2¹ ²
ARVD9² ⁵
Plakophilin-2¹

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, 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 plaques

Gene Wiki entry for PKP2

(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 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

SwitchGear Promoter luciferase reporter plasmid: PKP2 promoter sequence

Search SABiosciences Chromatin IP Primers for PKP2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, 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,
Biochemical Assays by 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: Plakophilin-2

Size: 881 amino acids; 97415 Da

Subunit: Interacts with DSC2

Subcellular location: Nucleus. Cell junction, desmosome. Note=Nuclear and associated with desmosomes

1 PDB 3D structure from and Proteopedia for PKP2:

3TT9 (3D)

Secondary accessions: A0AV37 D3DUW9 Q4VC01 Q99960

Alternative 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 PhosphoSitePlus²

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:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	GenScript Custom Purified and Recombinant Proteins Services for PKP2
	Novus Biologicals PKP2 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for PKP2

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	NAS	8922383
GO:0005882	intermediate filament	ISS	--
GO:0005886	plasma membrane	TAS	8922383
GO:0005911	cell-cell junction	ISS	--
GO:0005912	adherens junction	ISS	--

PKP2 for ontologies About GeneDecksing

PKP2 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of PKP2
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	GenScript Custom Superior Antibodies Services for PKP2
	Novus Biologicals PKP2 Antibodies
	Search for Antibodies for PKP2 at Abcam
	Uscn Antibodies for PKP2
	Search ThermoFisher Antibodies for PKP2

Assay Products for PKP2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PKP2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PKP2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PKP2 for domains About GeneDecksing

3 InterPro domains/families:

IPR011989 ARM-like

IPR000225 Armadillo

IPR016024 ARM-type_fold

Graphical View of Domain Structure for InterPro Entry Q99959

ProtoNet protein and cluster: Q99959

1 Blocks protein family: IPB000225 Armadillo repeat

UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959

Similarity: Belongs to the beta-catenin family

Similarity: Contains 8 ARM repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from 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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PKP2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PKP2
		8/15 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PKP2 (see all 7) OriGene shRNA RFP: PKP2 OriGene siRNA: PKP2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PKP2

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PKP2

Clone Products:		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 for PKP2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKP2 (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

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PKP2
		Search LifeMap BioReagents cell lines for PKP2

In Situ Assay
Products:

Advanced 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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0005080	protein kinase C binding	IPI	18474624
GO:0005515	protein binding	IPI	10852826
GO:0017080	sodium channel regulator activity	ISS	--
GO:0019215	intermediate filament binding	IDA	10852826

PKP2 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for PKP2:

Increased S DNA content

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-out Pkp2^tm1Wbm for PKP2
4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Pkp2):

cardiovascular system

homeostasis/metabolism

mortality/aging

muscle

PKP2 for phenotypes About GeneDecksing

(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 ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, 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

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

1.00

Arrhythmogenic right ventricular cardiomyopathy

0.99

Cytoskeleton remodeling Keratin filaments

Cytoskeleton remodeling Keratin filaments

1.00

Cytoskeleton remodeling_Keratin filaments

0.91

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for PKP2

Cytoskeleton remodeling Keratin filaments

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

Interactions:

SABiosciences Gene Network Central^TM 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} 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

About this table

Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (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 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 Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PKP2
Search CenterWatch for drugs/clinical trials and news about PKP2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from 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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PKP2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PKP2
		8/15 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PKP2 (see all 7) OriGene shRNA RFP: PKP2 OriGene siRNA: PKP2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PKP2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PKP2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKP2 (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

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PKP2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PKP2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PKP2
		QIAGEN QuantiFast Probe-based Assays in 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

(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,
PCR Arrays from 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 imageBioGPS
CGAP TAG: TTGAAGAAGA

About this image

PKP2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Zeugopod Periosteum

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

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 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

SABiosciences Expression via Pathway-Focused PCR Array including PKP2:

Adherens Junctions in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PKP2 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN 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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for PKP2 gene from 18 species (see representative species ) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chimpanzee (Pan troglodytes)	Mammalia	PKP2⁶	plakophilin 2	97(a)	1 ↔ 1	12(55492351-55595101)
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
rat (Rattus norvegicus)	Mammalia	Pkp2¹	plakophilin 2	80.88(n) 83.52(a)		287925 NM_001100499.1 NP_001093969.1
cow (Bos taurus)	Mammalia	PKP2¹	plakophilin 2	87.83(n) 88.27(a)		537784 NM_001083729.1 NP_001077198.1
dog (Canis familiaris)	Mammalia	PKP2¹	plakophilin 2	88.72(n) 89.71(a)		486613 XM_543739.2 XP_543739.2
oppossum (Monodelphis domestica)	Mammalia	PKP2⁶	--	74(a)	1 ↔ 1	8(8955280-9056576)
platypus (Ornithorhynchus anatinus)	Mammalia	ox_plat1_47532⁶ ox_plat1_471218⁶	Uncharacterized protein	84(a) 76(a)	1 ↔ many 1 ↔ many	Contig7332(3413-23489) Contig2622(4056-22623)
chicken (Gallus gallus)	Aves	PKP2¹	plakophilin 2	67.03(n) 63.43(a)		418130 XM_416362.3 XP_416362.3
lizard (Anolis carolinensis)	Reptilia	PKP2⁶	--	52(a)	1 ↔ 1	5(10084771-10126617)
zebrafish (Danio rerio)	Actinopterygii	pkp2¹	plakophilin 2	50.11(n) 41.22(a)		568060 NM_001113433.1 NP_001106904.1
sea urchin (Strongylocentrotus purpuratus)	Echinoidea	--	--	25(a)	1 → many	scaffold_3952(355-5963)
fruit fly (Drosophila melanogaster)	Insecta	p120ctn⁶	Adherens junction protein p120	20(a)	1 → many	2R(482798-496995)
honey bee (Apis mellifera)	Insecta	-- -- (see all 3)	--	18(a) 13(a) (see all 3)	many ↔ many many ↔ many (see all 3)	Group11.9(368769-379540) Group11.9(336603-389935)
worm (Caenorhabditis elegans)	Secernentea	jac-1⁶	Juxtamembrane domain-associated catenin	13(a)	1 → many	IV(15997633-16026815)
schistosome parasite (Schistosoma mansoni)	Trematoda	Smp_042340⁶	Catenin and plakophilin, putative	11(a)	1 → many	Smp_scaff000102(1871418-1913316)
common water flea (Daphnia pulex)	Crustacea	--	--	19(a)	1 → many	scaffold_97(262235-269967)
Trichoplax (Trichoplax adhaerens)	Tricoplacia	-- --	--	29(a) 28(a)	many ↔ many many ↔ many	scaffold_87(21586-22416) scaffold_11(622071-623450)
sea anemone (Nematostella vectensis)	Anthozoa	-- --	--	30(a) 25(a)	many ↔ many many ↔ many	scaffold_98(329850-335236) scaffold_1(460705-467263)

Species with no ortholog for PKP2

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)
About This Section

Paralogs for PKP2 gene

CTNND1² PKP1² PKP3² CTNND2² ARVCF² PKP4²

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

PKP2 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for PKP2
PGOHUM00000239632

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, 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

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
				--	--	--		--	--
rs146102241^1,2	C,F,	probable-non-pathogenic	36556198(+)	`ATGGAC/TCAGTG`	4	I V	mis¹		2		NA EU	5873
rs185681814^1,2	C,	unknown	36501391(+)	`GTTACA/CTTCTT`	2	--	int¹		0	--	--	--	--
rs151212477^1,2	C	other	36537084(+)	`GTCTCG/AAACTC`	3	/R /*	int¹ stg¹		1		NA	2972
rs1046154^1,2		--	32696269(-)	`CTGATG/TATAAG`	2	--	ut3¹ ese³		3		NA	124
rs112547924^1,2		--	32696438(+)	`CAAAAT/ATTATT`	2	--	ut3¹		1		CSA	2
rs12314796^1,2	C,F,H,	--	32696561(+)	`TAACTC/GTATAT`	2	--	ut3¹		5		NS EA NA	540
rs78540632^1,2		--	32697550(+)	`CCACAT/CGAATT`	2	--	ut3¹		1		NA	120
rs77988382^1,2		--	32697629(+)	`TGGCCA/GGTATC`	2	--	ut3¹		1		CSA	1
rs113493546^1,2	C,F,	--	32697959(+)	`ATGCAG/TTTTTT`	2	--	int¹		4		WA NA	242
rs6488093^1,2	C,F,A,	--	32699066(+)	`tggagT/Cgatct`	2	--	int¹		4		NA WA	8

HapMap Linkage Disequilibrium report for PKP2 (32943679 - 33049780 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for PKP2
2 CNVs: 49057 101474
3 Indels: 25000 42158 61223
Human Gene Mutation Database (HGMD): PKP2

Locus Specific Mutation Databases (LSDB): PKP2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PKP2

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

PKP2 for disorders           About GeneDecksing

OMIM gene information: 602861
OMIM disorders: 609040
UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959

Defects in PKP2 are the cause of familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9)

[MIM:609040]; also known as arrhythmogenic right ventricular cardiomyopathy 9 (ARVC9). ARVD is an autosomal dominant

disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and

sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings,

replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular

free wall

16 diseases for PKP2: About MalaCards

arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia, familial, 9 naxos disease palmoplantar keratosis

autosomal dominant disease ectodermal dysplasia brugada syndrome atopic dermatitis

keratosis arachnoiditis squamous cell carcinoma cardiomyopathy

dermatitis hepatocellular carcinoma carcinoma meningioma

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

Arrhythmogenic right ventricular dysplasia Branchiooculofacial syndrome

6 Novoseek 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

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant

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)
About This Section

PubMed articles for PKP2 gene, integrated from 9 sources (see all 96):
(articles sorted by number of sources associating them with PKP2)

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

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. (1996)
Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or innocent bystande rs? (PubMed id 19955750)^{1, 2, 9} Christensen A.H....Svendsen J.H. (2010)
Desmosomal plakophilin 2 as a differentiation marker in normal and malignant tissues. (PubMed id 10374264)^{1, 2, 9} Mertens C.... Franke W.W. (1999)
Comprehensive desmosome mutation analysis in north am ericans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 20031617)^{1, 2, 9} den Haan A.D....Judge D.P. (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. (2004)
Role of genetic testing in arrhythmogenic right ventr icular cardiomyopathy/dysplasia. (PubMed id 19863551)^{1, 2} Barahona-Dussault C....Brugada R. (2010)
Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 17010805)^{1, 9} Dalal D....Judge D.P. (2006)
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 16567567)^{1, 9} van Tintelen J.P....Hauer R.N. (2006)
Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy. (PubMed id 17521752)^{1, 9} Lahtinen A.M....Kontula K. (2008)
Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. (PubMed id 17041889)^{1, 9} Awad M.M....Judge D.P. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 5318	HGNC: 9024	AceView: PKP2	Ensembl:ENSG00000057294	euGenes: HUgn5318
ECgene: PKP2	Kegg: 5318	H-InvDB: PKP2

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for PKP2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKP2

Intellectual Property for PKP2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for PKP2 gene:
Search GeneIP for patents involving PKP2

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

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