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 CTRCT14
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 35
Unique public DNA variants reported 32
Individuals with public variants 58
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 September 17, 2021
Version GJA3:210917

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 https://www.LOVD.nl/GJA3
HGNC 4277
Entrez Gene 2700
PubMed articles GJA3
OMIM - Gene 121015
OMIM - Diseases CTRCT14 (CZP3)
HGMD GJA3
GeneCards GJA3
GeneTests GJA3
Orphanet GJA3


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 35


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