Casq2 calsequestrin 2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Casq2provided by RGD
Official Full Name: calsequestrin 2provided by RGD
Primary source: RGD:2276
See related: EnsemblRapid:ENSRNOG00000016243 AllianceGenome:RGD:2276
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: cardCSQ
Summary: Enables protein homodimerization activity and protein kinase C binding activity. Involved in negative regulation of ryanodine-sensitive calcium-release channel activity; regulation of cardiac muscle cell contraction; and regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion. Located in Z disc and sarcoplasmic reticulum. Biomarker of congestive heart failure and supravalvular aortic stenosis. Human ortholog(s) of this gene implicated in catecholaminergic polymorphic ventricular tachycardia 2. Orthologous to human CASQ2 (calsequestrin 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward (RPKM 2653.1) See more
Orthologs: human mouse all
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Genomic context

Location:: 2q34

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	2	NC_086020.1 (192214556..192270821)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	2	NC_051337.1 (189526003..189582276)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	2	NC_005101.4 (204512361..204568643)

Chromosome 2 - NC_086020.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The exacerbated diastolic Ca(2+) leak and arrhythmogenic activities were related to a diminished expression of calsequestrin along with increased SERCA pump activity, which, in effect, promoted a gain-of-function in RyRs without alterations in SR Ca(2+) load, RyR expression or its Ca(2+) sensitivity.
Title: Increased calcium leak associated with reduced calsequestrin expression in hyperthyroid cardiomyocytes.
We propose that cocaine accumulates in SR through its affinity for CASQ2 and affects both sasrcoplasmic reticulum Ca(2+) storage and release by altering the normal CASQ2 Ca(2+)-dependent polymerization
Title: Potential role of cardiac calsequestrin in the lethal arrhythmic effects of cocaine.
Data suggest CK2 can phosphorylate CSQ2 co-translationally at biosynthetic sites in rough ER, a process that may result in changes in its subsequent trafficking through the secretory pathway.
Title: The cytosolic protein kinase CK2 phosphorylates cardiac calsequestrin in intact cells.
Mitochondrial uncoupling results in fast transcriptional changes in CASQ2 expression that manifest as compromised Ca(2+) signalling, and these changes can be prevented by ROS scavengers.
Title: Mitochondrial uncoupling downregulates calsequestrin expression and reduces SR Ca2+ stores in cardiomyocytes.
Egr-1 negatively regulates calsequestrin expression and calcium dynamics in ventricular cells.
Title: Egr-1 negatively regulates calsequestrin expression and calcium dynamics in ventricular cells.
analysis of how human and rat CASQ2 ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity
Title: Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin.
Calsequestrin (CASQ2) stabilizes sarcoplasmic reticulum Ca2+ release by inhibiting the RyR2 channel through interaction with triadin (Trd).
Title: Protein protein interactions between triadin and calsequestrin are involved in modulation of sarcoplasmic reticulum calcium release in cardiac myocytes.
The role of CASQ2 in calcium (Ca2+) handling in cardiac myocytes can be attributed to its action as a Ca2+ buffer in the lumen of the sarcoplasmic reticulum.
Title: Modulation of cytosolic and intra-sarcoplasmic reticulum calcium waves by calsequestrin in rat cardiac myocytes.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2Rat235 (e-PCR), detects polymorphism
- UniSTS:227384

D2Got190 (e-PCR)
- UniSTS:114813

Casq2 (e-PCR), detects polymorphism
- UniSTS:499077

Casq2 (e-PCR), detects polymorphism
- UniSTS:507349

D2Got127 (e-PCR)
- UniSTS:113127

AA924985 (e-PCR)
- UniSTS:248306

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium ion sequestering activity	IEA Inferred from Electronic Annotation more info
enables calcium ion sequestering activity	ISO Inferred from Sequence Orthology more info
enables calcium-dependent protein binding	IEA Inferred from Electronic Annotation more info
enables calcium-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase C binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in cardiac muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in cellular response to caffeine	IEA Inferred from Electronic Annotation more info
involved_in cellular response to caffeine	ISO Inferred from Sequence Orthology more info
involved_in intracellular calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of potassium ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of potassium ion transport	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ryanodine-sensitive calcium-release channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ryanodine-sensitive calcium-release channel activity	ISO Inferred from Sequence Orthology more info
involved_in protein polymerization	IEA Inferred from Electronic Annotation more info
involved_in protein polymerization	ISO Inferred from Sequence Orthology more info
involved_in regulation of cardiac muscle cell contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IEA Inferred from Electronic Annotation more info
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISO Inferred from Sequence Orthology more info
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell communication by electrical coupling	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell communication by electrical coupling	ISO Inferred from Sequence Orthology more info
involved_in regulation of heart rate	IEA Inferred from Electronic Annotation more info
involved_in regulation of heart rate	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane repolarization	ISO Inferred from Sequence Orthology more info
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info
involved_in sarcomere organization	ISO Inferred from Sequence Orthology more info
involved_in sequestering of calcium ion	IEA Inferred from Electronic Annotation more info
involved_in sequestering of calcium ion	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in Z disc	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
part_of junctional membrane complex	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in sarcoplasmic reticulum lumen	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info
located_in sarcoplasmic reticulum lumen	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: calsequestrin-2

Names: SR calcium binding protein; calsequestrin 2 (cardiac muscle)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_017131.2 → NP_058827.3 calsequestrin-2 precursor

Status: VALIDATED

Source sequence(s)

BC072547, CK602439, CO401252

UniProtKB/Swiss-Prot

O09177, P51868, Q6IMX1

Related

ENSRNOP00000086716.2, ENSRNOT00000111697.2

Conserved Domains (4) summary

cd03065
Location:24 → 143

PDI_b_Calsequestrin_N; PDIb family, Calsequestrin subfamily, N-terminal TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient quantities (up to 20 mM) to allow ...

cd03066
Location:145 → 246

PDI_b_Calsequestrin_middle; PDIb family, Calsequestrin subfamily, Middle TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient quantities (up to 20 mM) to allow ...

cd03074
Location:247 → 366

PDI_b'_Calsequestrin_C; Protein Disulfide Isomerase (PDIb') family, Calsequestrin subfamily, C-terminal TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient ...

pfam01216
Location:22 → 371

Calsequestrin; Calsequestrin