CASQ2 calsequestrin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CASQ2provided by HGNC
Official Full Name: calsequestrin 2provided by HGNC
Primary source: HGNC:HGNC:1513
See related: Ensembl:ENSG00000118729 MIM:114251; AllianceGenome:HGNC:1513
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PDIB2
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]
Expression: Biased expression in heart (RPKM 404.6), urinary bladder (RPKM 24.0) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p13.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (115700021..115768714, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (115707724..115776700, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (116242642..116311335, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome.
Title: Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome.
Calsequestrin 2 overexpression in breast cancer increases tumorigenesis and metastasis by modulating the tumor microenvironment.
Title: Calsequestrin 2 overexpression in breast cancer increases tumorigenesis and metastasis by modulating the tumor microenvironment.
An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia.
Title: An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia.
Molecular adaptation to calsequestrin 2 (CASQ2) point mutations leading to catecholaminergic polymorphic ventricular tachycardia (CPVT): comparative analysis of R33Q and D307H mutants.
Title: Molecular adaptation to calsequestrin 2 (CASQ2) point mutations leading to catecholaminergic polymorphic ventricular tachycardia (CPVT): comparative analysis of R33Q and D307H mutants.
Catecholaminergic Polymorphic Ventricular Tachycardia.
Title: Catecholaminergic Polymorphic Ventricular Tachycardia.
Association of T66A polymorphism in CASQ2 with PR interval in a Chinese population.", trans "Assoziation des T66A-Polymorphismus im CASQ2-Gen mit dem PR-Intervall in einer chinesischen Population.
Title: Association of T66A polymorphism in CASQ2 with PR interval in a Chinese population.
The structure of a calsequestrin filament reveals mechanisms of familial arrhythmia.
Title: The structure of a calsequestrin filament reveals mechanisms of familial arrhythmia.
CASQ2 variants are associated with catecholaminergic polymorphic ventricular tachycardia.
Title: CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia.
We show for the first time a heterozygous CASQ2 variant causing autosomal dominant CPVT in a large family with a severe phenotype.
Title: A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.
a direct interaction exists between RyR2 and CSQ2, is reported.
Title: Calsequestrin interacts directly with the cardiac ryanodine receptor luminal domain.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Catecholaminergic polymorphic ventricular tachycardia 1 MedGen: C1631597 OMIM: 604772 GeneReviews: Catecholaminergic Polymorphic Ventricular Tachycardia	not available
Catecholaminergic polymorphic ventricular tachycardia 2 MedGen: C2677794 OMIM: 611938 GeneReviews: Catecholaminergic Polymorphic Ventricular Tachycardia	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL009800 (e-PCR)
- UniSTS:38721

SHGC-155959 (e-PCR)
- UniSTS:182105

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion sequestering activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion sequestering activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables calcium-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in Purkinje myocyte to ventricular cardiac muscle cell signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to caffeine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of calcium ion	TAS Traceable Author Statement more info	PubMed
involved_in intracellular calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of potassium ion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of potassium ion transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of ryanodine-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ryanodine-sensitive calcium-release channel activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein polymerization	IDA Inferred from Direct Assay 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell communication by electrical coupling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane repolarization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
involved_in sequestering of calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in striated muscle contraction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in Z disc	ISS Inferred from Sequence or Structural Similarity more info
part_of calcium channel complex	TAS Traceable Author Statement more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in junctional sarcoplasmic reticulum membrane	TAS Traceable Author Statement more info	PubMed
located_in sarcoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
is_active_in sarcoplasmic reticulum lumen	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum lumen	IC Inferred by Curator more info	PubMed
located_in sarcoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: calsequestrin-2

Names: calsequestrin 2 (cardiac muscle); calsequestrin 2, fast-twitch, 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.