Recombinant Human Calsequestrin-2 (CASQ2)

Uniprot Id

O14958

Target Species

Human

Target Name

CASQ2

Target Full Name

Calsequestrin-2

Target Function

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.

Target Involvement

Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2)

Target Subcellular Location

Sarcoplasmic reticulum lumen.

Target Protein Families

Calsequestrin family

Target Synonyms

AA033488; AW146219 ; Calsequestrin 2 (cardiac muscle); Calsequestrin 2 fast twitch cardiac muscle; Calsequestrin; Calsequestrin cardiac muscle isoform; Calsequestrin fast twitch cardiac muscle; Calsequestrin-2; Calsequestrin2; cardCSQ; Cardiac calsequestrin 2; cardiac muscle isoform; CASQ 2; CASQ2; CASQ2_HUMAN; cCSQ; ESTM52; FLJ26321; FLJ93514; PDIB2

Target Background

The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest.