Gene table of JPH2 : junctophilin 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with JPH2OMIM linkNumber of associated genesgenes
603829VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1ClinVar link to OMIM 13DSP, JPH2, MYH7, VCL, TTN, SNTA1, CACNA1C, RYR2, PKP2, KCNH2, RBM20, SCN5A, JUP
PS192600CARDIOMYOPATHY, FAMILIAL HYPERTROPHICClinVar, OMIM, HUMSAVAR link to OMIM 25CALR3, JPH2, VCL, TNNC1, LDB3, ACTC1, CSRP3, MYLK2, TTN, MYH7, NEXN, MYOZ2, TCAP, ACTN2, TNNT2, MYL2, MYBPC3, PLN, MYH6, TPM1, TNNI3, MYL3, PRKAG2, MYPN, CAV3

Download the gene annotation in CSV format

Annotation of the gene JPH2

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
signaling receptor activityGO:00380232.49
phosphatidylinositol-4-phosphate bindingGO:00702736.74
calcium channel activityGO:00052625.03
molecular transducer activityGO:00600892.32
bindingGO:00054880.18
signal transducer activityGO:00048712.28
cation channel activityGO:00052614.04
ion bindingGO:00431671.36
anion bindingGO:00431684.17
calcium ion transmembrane transporter activityGO:00150854.89
calcium-release channel activityGO:00152786.97
phosphatidylinositol-3,5-bisphosphate bindingGO:00800256.69
phosphatidylinositol-5-phosphate bindingGO:00103147.25
phospholipid bindingGO:00055433.91
ligand-gated ion channel activityGO:00152764.8
phosphatidylinositol-4,5-bisphosphate bindingGO:00055465.81
phosphatidylinositol-3,4,5-trisphosphate bindingGO:00055476.21
phosphatidylinositol bisphosphate bindingGO:19029365.79
transmembrane transporter activityGO:00228572.82
passive transmembrane transporter activityGO:00228033.6
metal ion transmembrane transporter activityGO:00468733.71
phosphatidylserine bindingGO:00017866.24
phosphatidic acid bindingGO:00703007.17
divalent inorganic cation transmembrane transporter activityGO:00725094.62
intracellular ligand-gated ion channel activityGO:00052176.41
transporter activityGO:00052152.57
ion channel activityGO:00052163.71
cation transmembrane transporter activityGO:00083243.32
lipid bindingGO:00082893.26
phosphatidylinositol phosphate bindingGO:19019815.05
substrate-specific transmembrane transporter activityGO:00228912.9
inorganic cation transmembrane transporter activityGO:00228903.49
substrate-specific transporter activityGO:00228922.72
modified amino acid bindingGO:00723415.56
phosphatidylinositol bindingGO:00350914.47
phosphatidylinositol-3-phosphate bindingGO:00322666.3
ion transmembrane transporter activityGO:00150753.04
transmembrane signaling receptor activityGO:00048882.57
channel activityGO:00152673.6
gated channel activityGO:00228363.96
protein bindingGO:00055150.46
ligand-gated channel activityGO:00228344.8
ligand-gated calcium channel activityGO:00996046.97
substrate-specific channel activityGO:00228383.67
transmembrane receptor activityGO:00996002.53
receptor activityGO:00048722.32