CASQ2

Chr 1p13.1

calsequestrin 2

Aliases:: PDIB2
MANE:: ENST00000261448.6

OMIM: 114251 ↗NCBI: 845 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CASQ2 · O14958

v62025-08-01

Predicted Aligned Error matrix for CASQ2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.5/ 100

Very high

399 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)6%
Low(50–70)6%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Catecholaminergic polymorphic VT
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
Hereditary neuropathy or pain disorder
Hypertrophic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal
Left Ventricular Noncompaction Cardiomyopathy

Disease associations (Open Targets)

catecholaminergic polymorphic ventricular tachycardia
0.76
catecholaminergic polymorphic ventricular tachycardia 1
0.59
Abnormality of the cardiovascular system
0.54
atrial fibrillation
0.54
atrial flutter
0.42
neurodegenerative disease
0.30
Prolonged QT interval
0.30
protozoa infectious disease
0.26
skin disorder
0.26
Wolff-Parkinson-White syndrome
0.26

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

Protein function (UniProt)

Calsequestrin-2

Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, especially at the interface between subunits. Can bind around 60 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR2; this plays an important role in triggering muscle contraction. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats