GJA5 gene homepage

General information
Gene symbol GJA5
Gene name gap junction protein, alpha 5, 40kDa
Chromosome 1
Chromosomal band q21.1
Imprinted Unknown
Genomic reference NG_009369.2
Transcript reference NM_005266.6
Exon/intron information NM_005266.6 exon/intron table
Associated with diseases ATFB-11, ATRST-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 54
Unique public DNA variants reported 26
Individuals with public variants 87
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated March 09, 2019
Version GJA5:190309

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_005266.6.
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/GJA5
External URL Orphanet
HGNC 4279
Entrez Gene 2702
PubMed articles GJA5
OMIM - Gene 121013
OMIM - Diseases ATFB-11 (fibrillation, atrial, familial, type 11 (ATFB11))
ATRST-1 (standstill, atrial, type 1 (ATRST-1))
GeneCards GJA5
GeneTests GJA5

Active transcripts




NCBI ID     

NCBI Protein ID     

00024137 1 transcript variant A NM_005266.6 NP_005257.2 54

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.