Gene table of GJB1 : gap junction protein beta 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with GJB1OMIM linkNumber of associated genesgenes
PS118220CHARCOT-MARIE-TOOTH DISEASEClinVar, OMIM, HUMSAVAR link to OMIM 48KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, RAB7A, LMNA, VCP, GDAP1, AIFM1, MORC2, SH3TC2, TRIM2, JPH1, PLEKHG5, DNM2, NAGLU, MTMR2, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, NEFH, NDRG1, MARS, SBF2, IGHMBP2, NEFL, EGR2, AARS, COX6A1, PDK3, DHTKD1, HK1, GJB1, LRSAM1, PRX, TRPV4, LITAF, MFN2, YARS, GARS

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Annotation of the gene GJB1

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
Transport of connexins along the secretory pathwayR-HSA-19082711.4
Gap junction traffickingR-HSA-1908287.59
Gap junction assemblyR-HSA-1908618.03
Membrane TraffickingR-HSA-1999915.26
Gap junction trafficking and regulationR-HSA-1578587.52
Oligomerization of connexins into connexonsR-HSA-19070411.4
Vesicle-mediated transportR-HSA-56536564.33
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
protein dimerization activityGO:00469832.72
protein homodimerization activityGO:00428033.16
gap junction channel activityGO:00052437.1
identical protein bindingGO:00428022.63
bindingGO:00054880.18