CALM2

calmodulin 2

2 disorders 1 causative 1 untyped 2p21 gene with protein product

HGNC:1445 Monarch NCBI Gene 805 ENSG00000143933 UniProt P0DP24 OMIM 114182

Aliases: PHKD, PHKD2, CAMII.

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
Familial Long QT Syndrome	causative	mechanism: Impaired Calcium-Dependent Inactivation of the L-Type Calcium Current subtype: Type 15 scoped to subtype: Type 15
RYR2 CPVT	untyped Causative	mechanism: Calmodulin Dysfunction

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
long QT syndrome MONDO:0002442	AD	Definitive 2018-09-25	no dismech entry
catecholaminergic polymorphic ventricular tachycardia MONDO:0017990	AD	Moderate 2021-06-17	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.