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 |