InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: CASQ2

Summary

InnateDB Gene

IDBG-101361.6

Last Modified

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

Gene Symbol

CASQ2

Gene Name

calsequestrin 2 (cardiac muscle)

Synonyms

PDIB2

Species

Homo sapiens

Ensembl Gene

ENSG00000118729

Encoded Proteins

IDBP-101363

calsequestrin 2 (cardiac muscle)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:115700007-115768781

Strand

Reverse strand

Band

p13.1

Transcripts

ENST00000261448	ENSP00000261448
ENST00000488931

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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000027861

View Gene Order

ENSBTAG00000011500

Not yet available

Pathways

NETPATH

REACTOME

REACT_160189

Stimuli-sensing channels pathway

REACT_15518

Transmembrane transport of small molecules pathway

REACT_25300

Ion channel transport pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

O14958

TrEMBL

UniProt Splice Variant

Entrez Gene

845

UniGene

Hs.57975

RefSeq

NM_001232

HUGO

HGNC:1513

OMIM

114251

CCDS

CCDS884

HPRD

IMGT

EMBL

AK313041 AL449264 AL450389 BC022288 CH471122 D55655

GenPept

AAH22288 BAA23494 BAG35873 CAI14532 CAI23373 EAW56635

RNA Seq Atlas

845