Casq2 calsequestrin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Casq2provided by MGI
Official Full Name: calsequestrin 2provided by MGI
Primary source: MGI:MGI:1309469
See related: Ensembl:ENSMUSG00000027861 AllianceGenome:MGI:1309469
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Csq2; cCSQ; ESTM52
Summary: Enables calcium ion binding activity. Involved in regulation of heart rate; regulation of ion transmembrane transport; and sarcomere organization. Acts upstream of or within regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion. Located in Z disc and sarcoplasmic reticulum lumen. Part of junctional membrane complex. Is expressed in several structures, including cardiovascular system; diaphragm; eye; male reproductive system; and upper leg muscle. Used to study catecholaminergic polymorphic ventricular tachycardia 2. 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, Apr 2022]
Expression: Biased expression in heart adult (RPKM 170.2), bladder adult (RPKM 15.9) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 3 F2.2; 3 44.3 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (101993731..102053830)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (102086415..102146514)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effects of acute ischemia and hypoxia in young and adult calsequestrin (CSQ2) knock-out and wild-type mice.
Title: Effects of acute ischemia and hypoxia in young and adult calsequestrin (CSQ2) knock-out and wild-type mice.
The Purkinje-myocardial junction is the anatomic origin of ventricular arrhythmia in CPVT.
Title: The Purkinje-myocardial junction is the anatomic origin of ventricular arrhythmia in CPVT.
Calsequestrin Deletion Facilitates Hippocampal Synaptic Plasticity and Spatial Learning in Post-Natal Development.
Title: Calsequestrin Deletion Facilitates Hippocampal Synaptic Plasticity and Spatial Learning in Post-Natal Development.
In an ongoing expression screen, this study identified that Tfap2b, Casq2, Penk, Zic1, and Zic3 are expressed in unique cell types in and around the developing eye.
Title: Localization of Tfap2β, Casq2, Penk, Zic1, and Zic3 Expression in the Developing Retina, Muscle, and Sclera of the Embryonic Mouse Eye.
we show that Fam20C phosphorylates several SR proteins involved in Ca(2+) signaling, including calsequestrin2 and Stim1, whose biochemical activities are dramatically regulated by Fam20C mediated phosphorylation
Title: A secretory pathway kinase regulates sarcoplasmic reticulum Ca(2+) homeostasis and protects against heart failure.
CASQ2-/- causes increase in calsequestrin 1 (CASQ1) expression.
Title: Characterization of fast-twitch and slow-twitch skeletal muscles of calsequestrin 2 (CASQ2)-knock out mice: unexpected adaptive changes of fast-twitch muscles only.
These data suggest a functional role of CSQ2 not only in the ventricle but also in the atrium of mammalian hearts
Title: Evidence for a functional role of calsequestrin 2 in mouse atrium.
Calcium entry activated by ablation of both JP45-CASQ1 and JP45-CASQ2 complexes supports tetanic force development in slow twitch soleus muscles.
Title: Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles.
The minimal KEKE motif of TRN involved in the interactions with CSQ2, HRC and RyR2 within the Ca2+ release units of cardiac sarcoplasmic reticulum has been defined.
Title: Characterization of Ca(2+)-Dependent Protein-Protein Interactions within the Ca(2+) Release Units of Cardiac Sarcoplasmic Reticulum.
While CASQ2 stabilizes RyR2 rendering it refractory in the diastolic phase, HRC enhances RyR2 activity facilitating RyR2 recovery from refractoriness.
Title: Ablation of HRC alleviates cardiac arrhythmia and improves abnormal Ca handling in CASQ2 knockout mice prone to CPVT.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (9) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

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

Casq2 (e-PCR), detects polymorphism
- UniSTS:508562

AA033488 (e-PCR), detects polymorphism
- UniSTS:143038

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

AW146219 (e-PCR)
- UniSTS:178902

Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
involved_in cardiac muscle contraction	ISO Inferred from Sequence Orthology 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	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of potassium ion transport	IDA Inferred from Direct Assay 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	ISO Inferred from Sequence Orthology more info
involved_in regulation of cardiac muscle cell contraction	ISO Inferred from Sequence Orthology more info
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
acts_upstream_of_or_within regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
involved_in regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane repolarization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
is_active_in sarcoplasmic reticulum lumen	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: calsequestrin-2

Names: cardiac calsequestrin

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_001355663.1 → NP_001342592.1 calsequestrin-2 isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AC159255, AC166072, BC092229

Consensus CDS

CCDS89672.1

UniProtKB/TrEMBL

B9EHC7, F6QYE1

Related

ENSMUSP00000130482.3, ENSMUST00000165540.9

Conserved Domains (1) summary

pfam01216
Location:22 → 374

Calsequestrin
NM_009814.4 → NP_033944.2 calsequestrin-2 isoform 2 precursor

See identical proteins and their annotated locations for NP_033944.2

Status: VALIDATED

Source sequence(s)

AC166072, AI114962, BC092229

Consensus CDS

CCDS51023.1

UniProtKB/Swiss-Prot

O09161, O88505, Q56A03

UniProtKB/TrEMBL

B9EHC7

Related

ENSMUSP00000029454.6, ENSMUST00000029454.12

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