Gene table of GJB2 : gap junction protein beta 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with GJB2OMIM linkNumber of associated genesgenes
149200KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESSClinVar, OMIM, HUMSAVAR link to OMIM 1GJB2
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
602540ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESSClinVar, OMIM, HUMSAVAR link to OMIM 1GJB2
148350KERATODERMA, PALMOPLANTAR, WITH DEAFNESSOMIM, HUMSAVAR link to OMIM 1GJB2
PS220290DEAFNESS, AUTOSOMAL RECESSIVEClinVar, OMIM, HUMSAVAR 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
124500DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOESClinVar, OMIM, HUMSAVAR link to OMIM 1GJB2
148210KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANTOMIM, HUMSAVAR link to OMIM 1GJB2

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Annotation of the gene GJB2

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

The gene is in the tandem Group 595, together with the genes:

Transcription regulation as annotated in TRRUST
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
Transport of connexons to the plasma membraneR-HSA-1908729.18
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
passive transmembrane transporter activityGO:00228033.6
gap junction channel activityGO:00052437.1