Disease-gene associations mined from literature

Literature associating CASQ2 and Jervell-Lange Nielsen syndrome

CASQ2 [ENSP00000261448]

Calsequestrin, cardiac muscle isoform; 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; Protein disulfide isomerases

Synonyms:  CASQ2,  CASQ2p,  hCASQ2,  O14958,  O14958p ...

Linkouts:  STRING  Pharos  UniProt  OMIM