| GENE NAME | GJA1 |
| CHROMOSOME | 6 |
| ENSEMBL ID | ENSG00000152661 |
| ENTREZ ID | 2697 |
| UNIPROT ACCESSION NUMBER | P17302 |
| GO MOLECULAR FUNCTION | gap junction hemi-channel activity; tubulin binding; efflux transmembrane transporter activity; scaffold protein binding; protein binding; ion transmembrane transporter activity; gap junction channel activity involved in cell communication by electrical coupling; signaling receptor binding; gap junction channel activity; beta-tubulin binding; protein tyrosine kinase binding; beta-catenin binding; gap junction channel activity involved in cardiac conduction electrical coupling; glutathione transmembrane transporter activity |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-190872; hsa05412; R-HSA-191650; R-HSA-5653656; R-HSA-157858; R-HSA-190861; R-HSA-199991; R-HSA-196025; R-HSA-190827; R-HSA-190828; R-HSA-190840; R-HSA-190873; R-HSA-190704; hsa04540 |
| 1 combination linked to GJA1 | OLI926 |
| 1 variant linked to GJA1 | GJA1:c.1127G>A, p.Arg376Gln |
| 1 disease linked to GJA1 | Transposition of the great arteries |