The 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
Exon/intron information NM_021954.3 exon/intron table
Associated with diseases CTRCT, CTRCT14
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 41
Individuals with public variants 125
Hidden variants 2
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 performed by Johan den Dunnen, supported by Global Variome.
Date created March 01, 2010
Date last updated November 13, 2023
Version GJA3:231113

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_021954.3.
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 4277
Entrez Gene 2700
PubMed articles GJA3
OMIM - Gene 121015
OMIM - Diseases CTRCT14 (CZP3)
GeneCards GJA3
GeneTests GJA3
Orphanet GJA3

Active transcripts




NCBI ID     

NCBI Protein ID     

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

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