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 49
Unique public DNA variants reported 42
Individuals with public variants 27
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 September 07, 2021
Version GJA8:210907

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 https://www.LOVD.nl/GJA8
HGNC 4281
Entrez Gene 2703
PubMed articles GJA8
OMIM - Gene 600897
OMIM - Diseases CTRCT1 (cataract, type 1 (CTRCT1))
HGMD GJA8
GeneCards GJA8
GeneTests GJA8
Orphanet 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 49


Copyright & disclaimer
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