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
Associated with diseases CTRCT-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 23
Unique public DNA variants reported 21
Individuals with public variants 21
Hidden variants 16
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 April 16, 2017
Version GJA8:170416

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 https://www.LOVD.nl/GJA8
External URL Orphanet
HGNC 4281
Entrez Gene 2703
PubMed articles GJA8
OMIM - Gene 600897
OMIM - Diseases CTRCT-1 (cataract, type 1 (CTRCT-1) (CTRCT-1))
HGMD GJA8
GeneCards GJA8
GeneTests GJA8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008533 1 gap junction protein, alpha 8, 50kDa NM_005267.4 NP_005258.2 23


Copyright & disclaimer
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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.