CASQ2

GENE INFORMATION

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Gene name

CASQ2 (HGNC Symbol)

Synonyms

PDIB2

Description

Calsequestrin 2 (cardiac muscle) (HGNC Symbol)

Entrez gene summary

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. [provided by RefSeq, Jul 2008]

Chromosome

1

Cytoband

p13.1

Chromosome location (bp)

115700007 - 115768781

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000118729 (version 78.38)

Entrez gene

845

UniProt

O14958 (UniProt - Evidence at protein level)

neXtProt

NX_O14958

Antibodypedia

CASQ2 antibodies
 

PROTEIN VIEW

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CASQ2-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CASQ2-001 ENSP00000261448
ENST00000261448
O14958
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