Gene table of GJA3 : gap junction protein alpha 3

Gene-disease associations table

Disease IDDisease nameSource of annotation with GJA3OMIM linkNumber of associated genesgenes
PS116200CATARACTClinVar, OMIM, HUMSAVAR link to OMIM 33GCNT2, CRYGD, VIM, CRYBB2, PITX3, UNC45B, BFSP1, GJA8, MAF, AGK, EPHA2, CRYBB3, MIP, CRYBA2, CRYGS, CRYBB1, FYCO1, SIPA1L3, CRYAB, GJA3, BFSP2, TDRD7, HSF4, CHMP4B, CRYAA, LIM2, WFS1, CRYBA4, LSS, CRYBA1, CRYGB, CRYGC, NHS

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Annotation of the gene GJA3

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
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
transporter activityGO:00052152.57
transmembrane transporter activityGO:00228572.82
channel activityGO:00152673.6
wide pore channel activityGO:00228296.6
protein bindingGO:00055150.46
passive transmembrane transporter activityGO:00228033.6
gap junction channel activityGO:00052437.1
identical protein bindingGO:00428022.63
bindingGO:00054880.18