CALM3

CALM3 encodes one of the three human calmodulin genes and produces the same 149 amino acid calmodulin protein encoded by CALM1 and CALM2. The protein is a ubiquitous calcium sensor with four EF-hand motifs that binds calcium and regulates ion channels, protein kinases, protein phosphatases, and cell-division machinery. Because CALM1, CALM2, and CALM3 encode identical proteins, core calcium-sensing functions transfer well across the calmodulin family. Direct channel- and sarcoplasmic-reticulum calcium-release regulation can be retained as core even when assayed in cardiac cells, whereas broader cardiac electrophysiology or tissue-context terms reflect downstream physiology or recruitment rather than a CALM3-specific biochemical difference. CALM3 variants contribute to calmodulinopathy, including CPVT and long-QT phenotypes driven by dysregulated calcium-channel signaling.

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.

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.

• cardiac_ion_channel_repolarization via RYR2 CPVT