Gene table of GJA5 : gap junction protein alpha 5

Gene-disease associations table

Disease IDDisease nameSource of annotation with GJA5OMIM linkNumber of associated genesgenes
PS608583ATRIAL FIBRILLATION, FAMILIALClinVar, OMIM, HUMSAVAR link to OMIM 13SCN3B, NUP155, ABCC9, KCNA5, GJA5, SCN4B, SCN2B, SCN5A, KCNE2, KCNJ2, KCNQ1, NPPA, SCN1B
108770ATRIAL STANDSTILL 1OMIM, HUMSAVAR link to OMIM 2GJA5, SCN5A

Download the gene annotation in CSV format

Annotation of the gene GJA5

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Membrane TraffickingR-HSA-1999915.26
Gap junction traffickingR-HSA-1908287.59
Vesicle-mediated transportR-HSA-56536564.33
Gap junction trafficking and regulationR-HSA-1578587.52
Gap junction assemblyR-HSA-1908618.03
Associated GO terms for Molecular function
GO termGO IDGO IC
connexin bindingGO:00712538.13
protein bindingGO:00055150.46
transporter activityGO:00052152.57
gap junction channel activity involved in cell communication by electrical couplingGO:19037639.05
transmembrane transporter activityGO:00228572.82
channel activityGO:00152673.6
wide pore channel activityGO:00228296.6
gap junction hemi-channel activityGO:00550778.35
gap junction channel activity involved in cardiac conduction electrical couplingGO:00860759.05
passive transmembrane transporter activityGO:00228033.6
gap junction channel activity involved in AV node cell-bundle of His cell electrical couplingGO:00860779.74
gap junction channel activityGO:00052437.1
bindingGO:00054880.18