CALM3

Chr 19q13.32

calmodulin 3

Aliases:: PHKD, PHKD3
MANE:: ENST00000291295.14

OMIM: 114183 ↗NCBI: 808 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CALM3 · P0DP25

v62025-08-01

Predicted Aligned Error matrix for CALM3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.5/ 100

Confident

149 residues

Confidence breakdown

Very high(≥ 90)46%
Confident(70–90)44%
Low(50–70)8%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Catecholaminergic polymorphic VT
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome

Disease associations (Open Targets)

long QT syndrome 16
0.65
long QT syndrome 1
0.52
bacterial infectious disease
0.50
Prolonged QT interval
0.46
familial long QT syndrome
0.39
neurodegenerative disease
0.37
Romano-Ward syndrome
0.37
catecholaminergic polymorphic ventricular tachycardia
0.27
Abnormality of the cardiovascular system
0.19
atrial fibrillation
0.18

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

Protein function (UniProt)

Calmodulin-3

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:31454269). Calcium-binding is required for the activation of calmodulin (PubMed:16760425, PubMed:31454269, 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:35568036). Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (PubMed:16760425)