Gene table of GJB6 : gap junction protein beta 6

Gene-disease associations table

Disease IDDisease nameSource of annotation with GJB6OMIM linkNumber of associated genesgenes
PS305100ECTODERMAL DYSPLASIA (SELECT EXAMPLES)ClinVar, OMIM, HUMSAVAR link to OMIM 8EDAR, GJB6, KRT74, KRT85, EDARADD, MSX1, EDA, HOXC13
PS220290DEAFNESS, AUTOSOMAL RECESSIVEClinVar, OMIM 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 GJB6

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
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