CASQ2

calsequestrin 2

2 disorders 1 causative 1 unknown 1 untyped 1p13.1 gene with protein product

HGNC:1513 Monarch NCBI Gene 845 ENSG00000118729 UniProt O14958 OMIM 114251

Aliases: PDIB2.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
CASQ2 CPVT	causativeunknown germline loss of function CLINGEN: definitive (Biallelic CPVT2) CLINGEN: moderate (Heterozygous CPVT2)	mechanism: CASQ2 Coding Missense Variation; CASQ2 Coding Stop-Gain Variation; CASQ2 Small Coding Deletion; CASQ2 Splice-Site Variation; Reduced CASQ2 Protein Abundance subtype: Biallelic CPVT2; Heterozygous CPVT2 scoped to subtype: Biallelic CPVT2, Heterozygous CPVT2
RYR2 CPVT	untyped Causative	mechanism: CASQ2 Loss-of-Function subtype: CPVT2

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
hypertrophic cardiomyopathy MONDO:0005045	AD	Disputed 2022-05-10	Hypertrophic Cardiomyopathy not named
catecholaminergic polymorphic ventricular tachycardia MONDO:0017990	AD	Moderate 2021-01-20	RYR2 CPVT untyped
catecholaminergic polymorphic ventricular tachycardia MONDO:0017990	AR	Definitive 2021-01-20	RYR2 CPVT untyped

Mechanism modules · computed from kb/

cardiac_ion_channel_repolarization via RYR2 CPVT

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.