The GJA8 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol GJA8
Gene name gap junction protein, alpha 8, 50kDa
Chromosome 1
Chromosomal band q21.1
Imprinted Unknown
Genomic reference NG_016242.1
Transcript reference NM_005267.4
Exon/intron information NM_005267.4 exon/intron table
Associated with diseases CTRCT1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 56
Unique public DNA variants reported 47
Individuals with public variants 31
Hidden variants 19
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 01, 2010
Date last updated January 11, 2023
Version GJA8:230111

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_005267.4.
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 4281
Entrez Gene 2703
PubMed articles GJA8
OMIM - Gene 600897
OMIM - Diseases CTRCT1 (cataract, type 1 (CTRCT1))
GeneCards GJA8
GeneTests GJA8
Orphanet GJA8

Active transcripts




NCBI ID     

NCBI Protein ID     

00008533 1 gap junction protein, alpha 8, 50kDa NM_005267.4 NP_005258.2 56

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 © 2010-2023. 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.