DNAJC5 gene homepage

An NCL gene variant database
General information
Gene symbol DNAJC5
Gene name DnaJ (Hsp40) homolog, subfamily C, member 5
Chromosome 20
Chromosomal band q13.33
Imprinted Unknown
Genomic reference NG_029805.2
Transcript reference NM_025219.2
Exon/intron information NM_025219.2 exon/intron table
Associated with diseases CLN, CLN-4B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Sara Mole
Total number of public variants reported 39
Unique public DNA variants reported 9
Individuals with public variants 77
Hidden variants 0
Download all this gene's data Download all data
Notes Alias CLN4.
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 August 17, 2011
Date last updated August 22, 2019
Version DNAJC5:190822

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_025219.2.
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/DNAJC5
External URL Orphanmet
HGNC 16235
Entrez Gene 80331
PubMed articles DNAJC5
OMIM - Gene 611203
OMIM - Diseases CLN-4B (lipofuscinosis, ceroid, neuronal, type 4, Parry type (CLN-4B))
HGMD DNAJC5
GeneCards DNAJC5
GeneTests DNAJC5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006554 20 DnaJ (Hsp40) homolog, subfamily C, member 5 NM_025219.2 NP_079495.1 39


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 © 2011-2020. 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.