The GJA1 gene homepage

General information
Gene symbol GJA1
Gene name gap junction protein, alpha 1, 43kDa
Chromosome 6
Chromosomal band q22-q23
Imprinted Unknown
Genomic reference NG_008308.1
Transcript reference NM_000165.3
Associated with diseases AVSD3, CMDR, EKVP1, EKVP3, HLHS1, ODDD, PPKCA1, SDTY3, Hallermann-Streiff syndrome, Oculodentodigital dysplasia, autosomal recessive
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 45
Unique public DNA variants reported 36
Individuals with public variants 192
Hidden variants 7
Date created May 03, 2013
Date last updated November 01, 2022
Version GJA1:221101

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
HGNC 4274
Entrez Gene 2697
PubMed articles GJA1
OMIM - Gene 121014
OMIM - Diseases AVSD3 (septal defect, atrioventricular, type 3 (AVSD-3))
CMDR (dysplasia, craniometaphyseal, autosomal recessive (CMDR))
EKVP1 (Erythrokeratodermia variabilis et progressiva 1)
EKVP3 (Erythrokeratodermia variabilis et progressiva 3)
HLHS1 (heart, hypoplastic left, syndrome (HLHS))
ODDD (Oculodentodigital dysplasia)
PPKCA1 (keratoderma, palmoplantar, with congenital alopecia, type 1 (PPKCA-1))
SDTY3 (syndactyly, type III (SDTY-3))
Hallermann-Streiff syndrome
Oculodentodigital dysplasia, autosomal recessive
Orphanet GJA1

Active transcripts




NCBI ID     

NCBI Protein ID     

00008529 6 gap junction protein, alpha 1, 43kDa NM_000165.3 NP_000156.1 45

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