InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CASQ2

Summary

InnateDB Protein

IDBP-101363.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CASQ2

Protein Name

calsequestrin 2 (cardiac muscle)

Synonyms

PDIB2;

Species

Homo sapiens

Ensembl Protein

ENSP00000261448

InnateDB Gene

IDBG-101361 (CASQ2)

Protein Structure

UniProt Annotation

Function

Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. The release of calcium bound to calsequestrin through a calcium release channel triggers muscle contraction. The skeletal muscle isoform (CASQ1) binds around 80 Ca(2+) ions, while the cardiac isoform (CASQ2) binds approximately 60 Ca(2+) ions. {ECO:0000269PubMed:17881003}.

Subcellular Localization

Sarcoplasmic reticulum lumen. Note=This isoform of calsequestrin occurs in the sarcoplasmic reticulum's terminal cisternae luminal spaces of cardiac and slow skeletal muscle cells.

Disease Associations

Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938]: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. {ECO:0000269PubMed:11704930, ECO:0000269PubMed:16908766, ECO:0000269PubMed:18399795}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0042803	protein homodimerization activity

Biological Process

GO:0002027	regulation of heart rate
GO:0005513	detection of calcium ion
GO:0006941	striated muscle contraction
GO:0010649	regulation of cell communication by electrical coupling
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0034220	ion transmembrane transport
GO:0043267	negative regulation of potassium ion transport
GO:0051208	sequestering of calcium ion
GO:0051258	protein polymerization
GO:0055085	transmembrane transport
GO:0060048	cardiac muscle contraction
GO:0060306	regulation of membrane repolarization
GO:0060315	negative regulation of ryanodine-sensitive calcium-release channel activity
GO:0071313	cellular response to caffeine
GO:0086029	Purkinje myocyte to ventricular cardiac muscle cell signaling
GO:1901017	negative regulation of potassium ion transmembrane transporter activity

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005891	voltage-gated calcium channel complex
GO:0014701	junctional sarcoplasmic reticulum membrane
GO:0016529	sarcoplasmic reticulum
GO:0030018	Z disc
GO:0033017	sarcoplasmic reticulum membrane
GO:0033018	sarcoplasmic reticulum lumen
GO:0034704	calcium channel complex