Gene table of EPS8 : epidermal growth factor receptor pathway substrate 8

Gene-disease associations table

Disease IDDisease nameSource of annotation with EPS8OMIM linkNumber of associated genesgenes
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

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Annotation of the gene EPS8

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
Associated GO terms for Molecular function
GO termGO IDGO IC
SH3/SH2 adaptor activityGO:00050705.79
protein binding, bridgingGO:00306744.68
protein bindingGO:00055150.46
cytoskeletal protein bindingGO:00080923.02
GTPase bindingGO:00510204.05
enzyme bindingGO:00198992.27
Ras GTPase bindingGO:00170164.2
actin bindingGO:00037793.74
signaling adaptor activityGO:00355915.43
Rac GTPase bindingGO:00483656.05
small GTPase bindingGO:00312674.13
bindingGO:00054880.18
Rho GTPase bindingGO:00170485.36
binding, bridgingGO:00600904.57