Gene table of JPH3 : junctophilin 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with JPH3	OMIM link	Number of associated genes	genes
606438	HUNTINGTON DISEASE-LIKE 2	ClinVar, OMIM	link to OMIM	1	JPH3

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 term	GO ID	GO IC
cation channel activity	GO:0005261	4.04
calcium channel activity	GO:0005262	5.03
molecular transducer activity	GO:0060089	2.32
receptor activity	GO:0004872	2.32
signal transducer activity	GO:0004871	2.28
signaling receptor activity	GO:0038023	2.49
calcium ion transmembrane transporter activity	GO:0015085	4.89
calcium-release channel activity	GO:0015278	6.97
ligand-gated ion channel activity	GO:0015276	4.8
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
transmembrane transporter activity	GO:0022857	2.82
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
intracellular ligand-gated ion channel activity	GO:0005217	6.41
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane signaling receptor activity	GO:0004888	2.57
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
ligand-gated channel activity	GO:0022834	4.8
ligand-gated calcium channel activity	GO:0099604	6.97
substrate-specific channel activity	GO:0022838	3.67
transmembrane receptor activity	GO:0099600	2.53