The PARK2 gene homepage

A Parkinson's disease Mutation Database
General information
Gene symbol PARK2
Gene name parkinson protein 2, E3 ubiquitin protein ligase (parkin)
Chromosome 6
Chromosomal band q25.2-q27
Imprinted Unknown
Genomic reference NC_000006.11
Transcript reference NM_004562.2
Exon/intron information NM_004562.2 exon/intron table
Associated with diseases cancer, lung, cancer, ovarian, LPRS-2, PARK-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) The Parkinson's Institute - Birgitt Schuele
Total number of public variants reported 250
Unique public DNA variants reported 167
Individuals with public variants 180
Hidden variants 5
Download all this gene's data Download all data
Notes A Parkinson's disease Mutation Database
NOTE: gene name changed from PARK2 to PRKN
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 27, 2008
Date last updated September 17, 2021
Version PARK2:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004562.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/PRKN
HGNC 8607
Entrez Gene 5071
PubMed articles PARK2
OMIM - Gene 602544
OMIM - Diseases cancer, lung
cancer, ovarian
LPRS-2 (leprosy, type 2 (LPRS-2))
PARK-2 (Parkinson disease, type 2 (PARK-2))
HGMD PARK2
GeneCards PARK2
GeneTests PARK2
Orphanet PARK2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001486 6 transcript variant 1 NM_004562.2 NP_004553.2 250


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2008-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.