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CALM2

Chr 2p21

calmodulin 2

Aliases:
PHKD, PHKD2, CAMII
MANE:
ENST00000272298.12

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Catecholaminergic polymorphic VT

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Long QT syndrome

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Short QT syndrome

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • long QT syndrome 15

    0.79
  • Romano-Ward syndrome

    0.63
  • familial long QT syndrome

    0.56
  • long QT syndrome 1

    0.54
  • Prolonged QT interval

    0.50
  • bacterial infectious disease

    0.50
  • Abnormality of the cardiovascular system

    0.41
  • sudden infant death syndrome

    0.33
  • alcohol drinking

    0.25
  • catecholaminergic polymorphic ventricular tachycardia

    0.25

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Calmodulin-2

Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding (PubMed:16760425, PubMed:26969752, PubMed:27165696). Calcium-binding is required for the activation of calmodulin (PubMed:16760425, PubMed:26969752, PubMed:27165696, PubMed:35568036). Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases, such as myosin light-chain kinases and calmodulin-dependent protein kinase type II (CaMK2), and phosphatases (PubMed:16760425, PubMed:26969752, PubMed:27165696, PubMed:35568036). Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (PubMed:16760425). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.