The PLA2G6 gene homepage

General information
Gene symbol PLA2G6
Gene name phospholipase A2, group VI (cytosolic, calcium-independent)
Chromosome 22
Chromosomal band q13.1
Imprinted Unknown
Genomic reference NG_007094.2
Transcript reference NM_003560.2
Exon/intron information NM_003560.2 exon/intron table
Associated with diseases ID, NBIA-2A, NBIA-2B, PARK-14
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Danielle Crompton, Manju Kurian and Derek Lim
Total number of public variants reported 234
Unique public DNA variants reported 178
Individuals with public variants 159
Hidden variants 13
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 29, 2010
Date last updated April 07, 2021
Version PLA2G6:210407

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_003560.2.
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
HGNC 9039
Entrez Gene 8398
PubMed articles PLA2G6
OMIM - Gene 603604
OMIM - Diseases NBIA-2A (neurodegeneration, with brain iron accumulation, type 2A (NBIA-2A, infantile neuroaxonal dystrophy, type 1))
NBIA-2B (neurodegeneration, with brain iron accumulation, type 2B (NBIA-2B))
PARK-14 (Parkinson disease, type 14 (PARK-14))
GeneCards PLA2G6
GeneTests PLA2G6
Orphanet PLA2G6

Active transcripts




NCBI ID     

NCBI Protein ID     

00024274 22 transcript variant 1 NM_003560.2 NP_003551.2 234

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2010-2021. 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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.