Details for Gene GJA5

GENE NAME GJA5
CHROMOSOME 1
ENSEMBL ID ENSG00000265107
ENTREZ ID 2702
UNIPROT ACCESSION NUMBER P36382
GO MOLECULAR FUNCTION gap junction hemi-channel activity; connexin binding; gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling; protein binding; gap junction channel activity; disordered domain specific binding; gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling; gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling; gap junction channel activity involved in cardiac conduction electrical coupling; gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling; gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-5653656; R-HSA-157858; R-HSA-190861; R-HSA-199991; R-HSA-157858; R-HSA-190861; R-HSA-199991; R-HSA-5653656; R-HSA-190828; R-HSA-190828
1 combination linked to GJA5 OLI981
1 variant linked to GJA5 GJA5:c.286G>T, p.Ala96Ser
1 disease linked to GJA5 Torsade-de-pointes syndrome with short coupling interval

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