Gene table of GJB3 : gap junction protein beta 3

Gene-disease associations table

Disease IDDisease nameSource of annotation with GJB3OMIM linkNumber of associated genesgenes
133200ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVAClinVar, OMIM, HUMSAVAR link to OMIM 3GJA1, GJB4, GJB3
PS220290DEAFNESS, AUTOSOMAL RECESSIVEOMIM link to OMIM 60CLIC5, KARS, OTOGL, CABP2, HGF, DFNB59, GIPC3, EPS8, MYO3A, CDH23, OTOF, ELMOD3, ESRRB, RDX, GJB2, GJB3, ESPN, ADCY1, CIB2, STRC, TMIE, S1PR2, FAM65B, TSPEAR, TBC1D24, SLC26A4, OTOG, COL11A2, MARVELD2, PNPT1, MYO15A, WHRN, CLDN14, MYO7A, GJB6, MET, TPRN, DCDC2, LRTOMT, TMC1, MYO6, ILDR1, MSRB3, SERPINB6, SLC26A5, ATP2B2, LHFPL5, SYNE4, GRXCR2, FOXI1, GRXCR1, LOXHD1, TECTA, PCDH15, TRIOBP, USH1C, KCNJ10, PTPRQ, TMPRSS3, OTOA
PS124900DEAFNESS, AUTOSOMAL DOMINANTClinVar, OMIM, HUMSAVAR link to OMIM 33GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, GRHL2, MYH14, TNC, MYH9

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Annotation of the gene GJB3

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation

The gene is in the tandem Group 24, together with the genes:

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
passive transmembrane transporter activityGO:00228033.6
gap junction channel activityGO:00052437.1