The ATP13A2 gene homepage

An NCL gene variant database
General information
Gene symbol ATP13A2
Gene name ATPase type 13A2
Chromosome 1
Chromosomal band p36
Imprinted Unknown
Genomic reference NG_009054.1
Transcript reference NM_022089.2
Exon/intron information NM_022089.2 exon/intron table
Associated with diseases KRS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Sara Mole
Total number of public variants reported 138
Unique public DNA variants reported 91
Individuals with public variants 161
Hidden variants 9
Download all this gene's data Download all data
Notes Alias CLN12.
An NCL gene variant database.
Establishment of this database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created July 27, 2011
Date last updated February 08, 2021
Version ATP13A2:210208

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_022089.2.
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/ATP13A2
External URL Orphanet
HGNC 30213
Entrez Gene 23400
PubMed articles ATP13A2
OMIM - Gene 610513
OMIM - Diseases KRS (CLN-12)
HGMD ATP13A2
GeneCards ATP13A2
GeneTests ATP13A2
Orphanet ATP13A2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003144 1 transcript variant 1 NM_022089.2 NP_071372.1 138


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 © 2011-2021. 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.