GJA3 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol GJA3
Gene name gap junction protein, alpha 3, 46kDa
Chromosome 13
Chromosomal band q12.11
Imprinted Unknown
Genomic reference NG_016399.1
Transcript reference NM_021954.3
Associated with diseases CTRCT-14
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 14
Unique public DNA variants reported 14
Individuals with public variants 18
Hidden variants 0
Notes This database is one of the "Eye disease" gene variant databases.
Date created March 01, 2010
Date last updated May 15, 2016
Version GJA3:160515

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 http://www.LOVD.nl/GJA3
External URL Orphanet
HGNC 4277
Entrez Gene 2700
PubMed articles GJA3
OMIM - Gene 121015
OMIM - Diseases CTRCT-14 (CZP-3)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008530 13 gap junction protein, alpha 3, 46kDa NM_021954.3 NP_068773.2 14


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 © 2010-2019. 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.