Gene table of DSG2 : desmoglein 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with DSG2OMIM linkNumber of associated genesgenes
PS115200DILATED CARDIOMYOPATHYClinVar, OMIM link to OMIM 36MYBPC3, VCL, PSEN2, PLN, LDB3, ACTC1, BAG3, RBM20, CSRP3, RAF1, MYH7, SGCD, TTN, FKTN, CRYAB, NEXN, SDHA, ABCC9, DSG2, ACTN2, TNNT2, GATAD1, EYA4, TNNC1, LAMA4, SCN5A, MYH6, DMD, TPM1, TNNI3, PRDM16, DES, LMNA, TMPO, MYPN, PSEN1
PS107970ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIAClinVar, OMIM, HUMSAVAR link to OMIM 9TGFB3, DSP, TMEM43, DSC2, PKP2, CTNNA3, RYR2, DSG2, JUP
PS604772VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHICClinVar link to OMIM 15DSP, MYBPC3, TPM1, SCN5A, DMPK, LMNA, CALM1, TRDN, RYR2, ANK2, TRPM4, KCNH2, LAMA4, CASQ2, DSG2
115000CARDIAC ARRHYTHMIAClinVar link to OMIM 25KCNE3, CACNB2, AKAP9, NPPA, KCNE1, SCN4B, CASQ2, KCNJ5, TANGO2, JUP, ANK2, KCNJ2, DSG2, NOS1AP, KCNJ8, LIG3, RYR2, CACNA1C, KCNE2, KCNH2, SCN5A, HCN4, SNTA1, SCN1B, KCNQ1

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Annotation of the gene DSG2

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

The gene is in the tandem Group 791, together with the genes:

Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Arrhythmogenic right ventricular cardiomyopathy (ARVC)hsa054126.32
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Apoptotic cleavage of cellular proteinsR-HSA-1114657.73
Apoptotic execution phaseR-HSA-751537.28
Apoptotic cleavage of cell adhesion proteinsR-HSA-3519069.52
Programmed Cell DeathR-HSA-53578015.65
ApoptosisR-HSA-1095815.68
Associated GO terms for Molecular function
GO termGO IDGO IC
bindingGO:00054880.18
cation bindingGO:00431691.4
cell adhesion molecule bindingGO:00508394.5
protein binding involved in cell adhesionGO:00986316.91
protein binding involved in cell-cell adhesionGO:00986327.34
ion bindingGO:00431671.36
calcium ion bindingGO:00055093.17
protein bindingGO:00055150.46
metal ion bindingGO:00468721.41
protein binding involved in heterotypic cell-cell adhesionGO:00860807.54
cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:00860837.95