InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Casq2

Summary

InnateDB Gene

IDBG-180167.6

Last Modified

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

Gene Symbol

Casq2

Gene Name

calsequestrin 2

Synonyms

AA033488; AW146219; cCSQ; ESTM52

Species

Mus musculus

Ensembl Gene

ENSMUSG00000027861

Encoded Proteins

IDBP-180169

calsequestrin 2

IDBP-626214

calsequestrin 2

IDBP-626216

calsequestrin 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000118729:
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 3:102086415-102146514

Strand

Forward strand

Band

F2.2

Transcripts

ENSMUST00000029454	ENSMUSP00000029454
ENSMUST00000159521
ENSMUST00000159833
ENSMUST00000164123	ENSMUSP00000131232
ENSMUST00000165540	ENSMUSP00000130482

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding

Biological Process

GO:0002027	regulation of heart rate
GO:0006937	regulation of muscle contraction
GO:0010649	regulation of cell communication by electrical coupling
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0043267	negative regulation of potassium ion transport
GO:0051208	sequestering of calcium ion
GO:0051258	protein polymerization
GO:0060048	cardiac muscle contraction
GO:0060306	regulation of membrane repolarization
GO:0071313	cellular response to caffeine
GO:1901017	negative regulation of potassium ion transmembrane transporter activity

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0016529	sarcoplasmic reticulum
GO:0030018	Z disc
GO:0033018	sarcoplasmic reticulum lumen

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000118729

View Gene Order

ENSBTAG00000011500

Not yet available

Pathways

NETPATH

REACTOME

REACT_196640

Stimuli-sensing channels pathway

REACT_262350

Ion channel transport pathway

REACT_253400

Transmembrane transport of small molecules pathway

KEGG

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

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

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Mm.15343 Mm.406876

RefSeq

NM_009814 XM_006500947

OMIM

CCDS

CCDS51023

HPRD

IMGT

MGI ID

MGI Symbol

EMBL

GenPept

RNA Seq Atlas