PKP2 (Q18030571)

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protein-coding gene in the species Homo sapiens

ARVD9
plakophilin 2

Sprache	Label	Description	Also known as
Englisch	PKP2	protein-coding gene in the species Homo sapiens	ARVD9 plakophilin 2

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000057294

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

1 reference

6 July 2017

UniProt protein ID

1 reference

UniProt protein ID

20 March 2016

language of work or name

genetic association

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_9970&ncbiId=5318

http://www.genome.gov/gwastudies/index.cfm?gene=PKP2

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population

25 May 2020

arrhythmogenic right ventricular dysplasia 9

2 references

UniProt protein ID

13 August 2019

4 May 2020

https://search.clinicalgenome.org/kb/gene-validity/8753

arrhythmogenic right ventricular cardiomyopathy

3 references

9 December 2020

https://search.clinicalgenome.org/kb/gene-validity/6f97b6cd-5225-4076-b67a-2f609908e6fe--2018-03-08T17:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f97b6cd-5225-4076-b67a-2f609908e6fe-2018-03-08T170000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000057294/Orphanet_247

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 12

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

32943679

human chromosome 12

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

32790755

human chromosome 12

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

33049774

human chromosome 12

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

32896777

human chromosome 12

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

cytogenetic location

12p11.21

1 reference

15 May 2022

3364

1 reference

15 May 2022

Gene Atlas image

PBB GE PKP2 214154 s at fs.png
732 × 530; 12 KB

0 references

PBB GE PKP2 207717 s at fs.png
732 × 530; 11 KB

0 references

2 references

HomoloGene build68

3364

Orthologous MAtrix

https://omabrowser.org/oma/vps/Q99959/

1 reference

HomoloGene build68

3364

1 reference

HomoloGene build68

3364

right ventricle

1

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000057294

2

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000057294

myocardium of left ventricle

3

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000057294

right uterine tube

4

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000057294

5

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000057294

cardiac muscle tissue of right atrium

6

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000057294

mucosa of colon

7

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000057294

mucosa of sigmoid colon

8

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000057294

9

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000057294

mucosa of transverse colon

10

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000057294

http://identifiers.org/ncbigene/5318

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000057294

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

Ensembl transcript ID

ENST00000070846

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

ENST00000340811

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

ENST00000546498

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

ENST00000546741

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

ENST00000546769

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

ENST00000549461

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

ENST00000552612

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000057294

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(4 entries)

enwiki Plakophilin-2
frwiki Plakophiline 2
ttwiki PKP2
ukwiki PKP2

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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