PKP2 Gene

Aliases
for PKP2 gene

(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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Previous GC identifers: GC12M033434 GC12M033020 GC12M032844 GC12M032835 GC12M032834 GC12M032696

Summaries
for PKP2 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
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 at NCBI GenBank:

NC_000012.11  NC_018923.2  NT_009714.18  

SwitchGear Promoter luciferase reporter plasmid: PKP2 promoter sequence

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

PKP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M032943:  view genomic region     (about GC identifiers)

Proteins
for PKP2 gene

(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., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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1 PDB 3D structure from and Proteopedia for PKP2:

3TT9 (3D)    

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

Explore proteomics data for PKP2 at MOPED

Post-translational modifications: 

PKP2 Human Recombinant Protein Products:

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	antibodies-online kits for PKP2 (20 products)

Domains /
Families
for PKP2 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q99959

Find genes that share domains with PKP2           About GenesLikeMe

Function
for PKP2 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

(inferred from 1 allele) (MGI details for Pkp2)

genOway: Develop your customized and physiologically relevant rodent model 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

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Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for PKP2

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		GenScript: all cDNA clones in your preferred vector (see all 2): PKP2 (NM_004572)
		Sino Biological Human cDNA Clone for PKP2
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		Addgene plasmids for PKP2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PKP2
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKP2

Localization
for PKP2 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
nucleus	5
plasma membrane	4
cytoskeleton	3
cytosol	3

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

Pathways & Interactions
for PKP2 gene

(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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
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SuperPaths for PKP2 About     See pathways by source

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	SuperPath	Contained pathways About
1	Hypertrophic cardiomyopathy (HCM)	Arrhythmogenic right ventricular cardiomyopathy (ARVC) 0.54 Arrhythmogenic right ventricular cardiomyopathy 0.54
2	Cytoskeleton remodeling Neurofilaments	Cytoskeleton remodeling Keratin filaments 0.32

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)

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

Drugs & Compounds
for PKP2 gene

(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, Sets of similar genes according to GenesLikeMe)
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Transcripts
for PKP2 gene

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

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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

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKP2

Orthologs
for PKP2 gene

(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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Paralogs
for PKP2 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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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

Find genes that share paralogs with PKP2           About GenesLikeMe


1 Pseudogenes.org Pseudogene for PKP2
PGOHUM00000239632

Genomic Variants
for PKP2 gene

(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 PKP2 (see all 2270)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
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	--	--	--	--
rs1461022411,2,,4	C,F	probable-non-pathogenic1	32844443(+)	ATGGAC/TCAGTG	4	I V	mis1		2		NA EU	5873
rs1512124771,2	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

DNA2.0 Custom Variant and Variant Library Synthesis for PKP2

Disorders / Diseases
for PKP2 gene

(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, Sets of similar genes according to GenesLikeMe)
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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

9 diseases for PKP2:    
About MalaCards

6 Novoseek inferred disease relationships for PKP2 gene    About this table

Publications
for PKP2 gene

(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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1. 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)
2. 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)
3. 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)
4. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PubMed id 19863551)^{1, 2, 4} Barahona-Dussault C.... Brugada R. (Clin. Genet. 2010)
5. 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)
6. 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)
7. 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)
8. 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)
9. 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)
10. 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)

External Searches for PKP2 gene

Genome Databases showing PKP2 gene

Other Databases showing PKP2 gene

Specialized Databases showing PKP2 gene

Products
for PKP2 gene

(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, eBioscience, antibodies-online, GeneTex, 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 genOway)
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