Gene table of CASQ2 : calsequestrin 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CASQ2	OMIM link	Number of associated genes	genes
PS604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	ClinVar, OMIM, HUMSAVAR	link to OMIM	15	DSP, MYBPC3, TPM1, SCN5A, DMPK, LMNA, CALM1, TRDN, RYR2, ANK2, TRPM4, KCNH2, LAMA4, CASQ2, DSG2
115000	CARDIAC ARRHYTHMIA	ClinVar	link to OMIM	25	KCNE3, CACNB2, AKAP9, NPPA, KCNE1, SCN4B, CASQ2, KCNJ5, TANGO2, JUP, ANK2, KCNJ2, DSG2, NOS1AP, KCNJ8, LIG3, RYR2, CACNA1C, KCNE2, KCNH2, SCN5A, HCN4, SNTA1, SCN1B, KCNQ1

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

REACTOME pathway	REACTOME ID	REACTOME IC
Ion channel transport	R-HSA-983712	5.34
Transmembrane transport of small molecules	R-HSA-382551	3.79
Stimuli-sensing channels	R-HSA-2672351	6.28

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
calcium ion binding	GO:0005509	3.17
calcium-dependent protein binding	GO:0048306	5.68
ion binding	GO:0043167	1.36
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
protein dimerization activity	GO:0046983	2.72
metal ion binding	GO:0046872	1.41
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16