Gene table of JPH2 : junctophilin 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with JPH2	OMIM link	Number of associated genes	genes
603829	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	ClinVar	link to OMIM	13	DSP, JPH2, MYH7, VCL, TTN, SNTA1, CACNA1C, RYR2, PKP2, KCNH2, RBM20, SCN5A, JUP
PS192600	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	ClinVar, OMIM, HUMSAVAR	link to OMIM	25	CALR3, JPH2, VCL, TNNC1, LDB3, ACTC1, CSRP3, MYLK2, TTN, MYH7, NEXN, MYOZ2, TCAP, ACTN2, TNNT2, MYL2, MYBPC3, PLN, MYH6, TPM1, TNNI3, MYL3, PRKAG2, MYPN, CAV3

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Annotation of the gene JPH2

Associated genes in ENSEMBL

ENSG00000149596

Associated proteins - SwissProt Accession ID

Q9BR39

Associated PDB IDs

Cytogenetic Band

20q13.12

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
signaling receptor activity	GO:0038023	2.49
phosphatidylinositol-4-phosphate binding	GO:0070273	6.74
calcium channel activity	GO:0005262	5.03
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
cation channel activity	GO:0005261	4.04
ion binding	GO:0043167	1.36
anion binding	GO:0043168	4.17
calcium ion transmembrane transporter activity	GO:0015085	4.89
calcium-release channel activity	GO:0015278	6.97
phosphatidylinositol-3,5-bisphosphate binding	GO:0080025	6.69
phosphatidylinositol-5-phosphate binding	GO:0010314	7.25
phospholipid binding	GO:0005543	3.91
ligand-gated ion channel activity	GO:0015276	4.8
phosphatidylinositol-4,5-bisphosphate binding	GO:0005546	5.81
phosphatidylinositol-3,4,5-trisphosphate binding	GO:0005547	6.21
phosphatidylinositol bisphosphate binding	GO:1902936	5.79
transmembrane transporter activity	GO:0022857	2.82
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
phosphatidylserine binding	GO:0001786	6.24
phosphatidic acid binding	GO:0070300	7.17
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
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
lipid binding	GO:0008289	3.26
phosphatidylinositol phosphate binding	GO:1901981	5.05
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
modified amino acid binding	GO:0072341	5.56
phosphatidylinositol binding	GO:0035091	4.47
phosphatidylinositol-3-phosphate binding	GO:0032266	6.3
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
protein binding	GO:0005515	0.46
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
receptor activity	GO:0004872	2.32