CASQ2 - calsequestrin 2 Gene

Homo sapiens

Also known as PDIB2

Gene ID: 845 | Gene type: protein coding

About CASQ2

Cytogenetic location: 1p13.1 Genomic coordinates (GRCh38): 1:115,700,021-115,768,714 (from NCBI)

This gene has 2 transcripts (splice variants), 276 orthologues, 1 paralogue and is associated with 4 phenotypes. Biased expression in heart (RPKM 404.6), urinary bladder (RPKM 24.0) and 2 other tissues.

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]

CASQ2 Products(1)

mRNA	Protein	Name
NM_001232.4	NP_001223.2	calsequestrin-2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	16601229	GOA
enables calcium ion sequestering activity	IDA IDA: Inferred from direct assay	21416293	GOA
enables calcium ion sequestering activity	IMP IMP: Inferred from mutant phenotype	16908766	GOA
enables calcium-dependent protein binding	IDA IDA: Inferred from direct assay	15485681	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22123818	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cardiac muscle contraction	IMP IMP: Inferred from mutant phenotype	16908766	GOA
involved in cellular response to caffeine	IMP IMP: Inferred from mutant phenotype	16908766	GOA
involved in intracellular calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	16908766	GOA
involved in negative regulation of ryanodine-sensitive calcium-release channel activity	IDA IDA: Inferred from direct assay	16601229	GOA
involved in protein polymerization	IDA IDA: Inferred from direct assay	17881003	GOA
involved in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IMP IMP: Inferred from mutant phenotype	16601229	GOA
involved in regulation of cell communication by electrical coupling	IMP IMP: Inferred from mutant phenotype	16908766	GOA
involved in regulation of heart rate	IMP IMP: Inferred from mutant phenotype	15485681	GOA
involved in sequestering of calcium ion	IDA IDA: Inferred from direct assay	16601229	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	22123818	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CASQ2 Protein Structure

Calsequestrin

0
100
200
300
399 a.a.

Protein Preferred Names

Protein Names

calsequestrin-2

calsequestrin 2 (cardiac muscle)

CASQ2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CASQ2	O14958	BYSL	Homo sapiens	Q13895	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Catecholaminergic Polymorphic Ventricular Tachycardia 2	CPVT2
Vtsip	Bidirectional Tachycardia
Stress-Induced Polymorphic Ventricular Tachycardia	Ventricular Tachycardia, Stress-Induced Polymorphic
Cvpt2	Double Tachycardia Induced By Catecholamines
Malignant Paroxysmal Ventricular Tachycardia	Multifocal Ventricular Premature Beats
Paroxysmal Ventricular Fibrillation	Syncopal Paroxysmal Tachycardia
Syncopal Tachyarythmia	Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 2
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1	Multifocal Pvcs
Multifocal Premature Ventricular Beats	Paroxysmal Familial Ventricular Fibrillation

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt	Catecholamine-Induced Polymorphic Ventricular Tachycardia
Familial Polymorphic Ventricular Tachycardia	Malignant Paroxysmal Ventricular Tachycardia
Multifocal Ventricular Premature Beats	Stress-Induced Polymorphic Ventricular Tachycardia
Bidirectional Tachycardia Induced By Catecholamine	Double Tachycardia Induced By Catecholamines
Polymorphic Catecholergic Ventricular Tachycardia	Syncopal Paroxysmal Tachycardia
Bidirectional Tachycardia Induced By Catecholamines	Fpvt
Bidirectional Ventricular Tachycardia Induced By Catecholamine	Polymorphic Ventricular Tachycardia Induced By Catecholamines
Ventricular Tachycardia, Catecholaminergic Polymorphic	Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
Familial Ventricular Tachycardia	Multifocal Pvcs
Multifocal Premature Ventricular Beats

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy

Catecholaminergic Polymorphic Ventricular Tachycardia 1	Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
CPVT1	Ventricular Tachycardia, Stress-Induced Polymorphic
Vtsip	Bidirectional Tachycardia
Stress-Induced Polymorphic Ventricular Tachycardia	Cvpt1
Double Tachycardia Induced By Catecholamines	Malignant Paroxysmal Ventricular Tachycardia
Multifocal Ventricular Premature Beats	Paroxysmal Ventricular Fibrillation
Syncopal Paroxysmal Tachycardia	Syncopal Tachyarythmia
Ventricular Tachycardia Catecholaminergic Polymorphic 1	Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 1
Multifocal Pvcs	Multifocal Premature Ventricular Beats
Paroxysmal Familial Ventricular Fibrillation	Catecholaminergic Polymorphic Ventricular Tachycardia Type 1

Cardiac Arrest

Cardiopulmonary Arrest	Circulatory Arrest
Heart Arrest

Wolff-Parkinson-White Syndrome

Wolff-Parkinson-White Pattern	Wpw Syndrome
Anomalous Atrioventricular Excitation	Anomalous A-V Excitation
Ventricular Pre-Excitation With Arrhythmia	WPWS
Ventricular Familial Preexcitation Syndrome	Preexcitation Syndrome
Ventricular Preexcitation	Wpw - [Wolff-Parkinson- White] Syndrome
Pre-Excitation Syndrome

Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

Catecholaminergic Polymorphic Ventricular Tachycardia 3	CPVT3
Cvpt3	Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 3

Short Qt Syndrome

Sqts	Familial Short Qt Syndrome

Andersen Cardiodysrhythmic Periodic Paralysis

Andersen Syndrome	Andersen-Tawil Syndrome
LQT7	Long Qt Syndrome 7
Ats	Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type
Long Qt Syndrome Type 7	Andersen Tawil Syndrome
Potassium-Sensitive Cardiodysrhythmic Type	Lqts Type 7
Long Qt Syndrome-7

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Long Qt Syndrome 2

LQT2	Long Qt Syndrome, Acquired, Reduced Susceptibility To
Long Qt Syndrome 1/2	Long Qt Syndrome 2/3
Long Qt Syndrome 2/5	Long Qt Syndrome 2, Acquired, Susceptibility To
Long Qt Syndrome, Acquired, Reduced	Long Qt Syndrome Type 2
Long Qt Syndrome 2/9	Lqt1/2
Lqt2/3	Lqt2/5
Lqt2/9	Susceptibility To Acquired Long Qt Syndrome 2
Long Qt Syndrome-2	Qt Syndrome, Long, Type 2
Long Qt Syndrome 1-2	Long Qt Syndrome 2-3
Long Qt Syndrome 2-5	Long Qt Syndrome 9

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Jervell And Lange-Nielsen Syndrome 1

Jervell And Lange-Nielsen Syndrome	Jervell-Lange Nielsen Syndrome
Prolonged Qt Interval In Ekg And Sudden Death	Cardioauditory Syndrome Of Jervell And Lange-Nielsen
Surdo-Cardiac Syndrome	JLNS1
Deafness, Congenital, And Functional Heart Disease	Jlns
Long Qt Interval-Deafness Syndrome	Jervell And Lange-Nielson Syndrome
Jervell Lange-Nielsen Syndrome	Autosomal Recessive Long Qt Syndrome
Cardio-Auditory-Syncope Syndrome	Long Qt Interval-Hearing Loss Syndrome
Congenital Deafness And Functional Heart Disease	Long Qt Interval-Deafness

Long Qt Syndrome 3

LQT3	Long Qt Syndrome Type 3
Long Qt Syndrome-3	Qt Syndrome, Long, Type 3

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Timothy Syndrome

Long Qt Syndrome With Syndactyly	TS
Lqt8	Long Qt Syndrome 8
Long Qt Syndrome Type 8	Long Qt Syndrome-Syndactyly Syndrome

Long Qt Syndrome 1

Romano-Ward Syndrome	LQT1
Ward-Romano Syndrome	Rws
Ventricular Fibrillation With Prolonged Qt Interval	Wrs
Long Qt Syndrome 1, Acquired, Susceptibility To	Long Qt Syndrome 1, Acquired
Romano-Ward Long Qt Syndrome	Long Qt Syndrome Type 1
Long Qt Syndrome-1	Acquired Susceptibility To Long Qt Syndrome 1
Qt Syndrome, Long, Type 1

Malignant Hyperthermia

Anesthesia Related Hyperthermia	Malignant Hyperpyrexia Due To Anesthesia
Hyperpyrexia, Malignant	Hyperthermia, Malignant
Malignant Hyperpyrexia	Mhs
Malignant Fever

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction Cardiomyopathy

Familial Atrial Fibrillation

Atrial Fibrillation, Familial	Atfb
Atrial Fibrillation Autosomal Dominant	Autosomal Dominant Atrial Fibrillation
Auricular Fibrillation	Atrial Fibrillation
Atrial Fibrillation, Familial, 1

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Intrinsic Cardiomyopathy

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia	Arvc
Arvd	Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Arvc Cardiomyopathy	Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
Arvd/C	Right Ventricular Dysplasia, Arrhythmogenic
Ventricular Dysplasia, Right, Arrhythmogenic	Cardiomyopathy, Ventricular, Right, Arrhythmogenic
Dysplasia, Arrhythmogenic Right Ventricular

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease	Coronary Artery Anomaly
Coronary Artery Disease, Susceptibility To	Myocardial Ischemia
Congenital Anomaly Of Coronary Artery	Coronary Arteriosclerosis
Coronary Disease	Coronary Heart Disease
Coronary Artery Disorder	LPAQTL
Lpa Deficiency, Congenital	Coronary Artery Abnormality
Coronary Artery Anomaly, Congenital	Chd
Coronary Syndrome	Congenital Malformations Of Coronary Vessels
Malformation Of Coronary Vessels	Congenital Coronary Artery Anomaly
Congenital Coronary Artery Deformity	Congenital Coronary Artery Disorder
Abnormal Coronary Artery	Congenital Coronary Artery Malposition
Congenital Coronary Disease	Congenital Anomaly Of Coronary Arteries

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy	Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 1	CMH1
Hypertrophic Cardiomyopathy 19	CMH
Ventricular Hypertrophy, Hereditary	Ash
Hypertrophic Subaortic Stenosis, Idiopathic	Cardiomyopathy, Familial Hypertrophic
Cardiomyopathy, Hypertrophic, 1, Digenic	Cardiomyopathy, Familial Hypertrophic 1
Hcm	Hereditary Ventricular Hypertrophy
Idiopathic Hypertrophic Subaortic Stenosis	Hypertrophic Cardiomyopathy
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy, Hypertrophic, 1
Familial Asymmetric Septal Hypertrophy	Heritable Hypertrophic Cardiomyopathy
Fhc	Cardiomyopathy, Hypertrophic, Familial, Type 1

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01973	CASQ2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CASQ2	VGNC	VGNC:26787
Felis catus	CASQ2	VGNC	VGNC:60387
Canis familiaris	CASQ2	VGNC	VGNC:38739
Rattus norvegicus	CASQ2	RGD	RGD:2276
Mus musculus	CASQ2	MGD	MGI:1309469
Macaca mulatta	CASQ2	VGNC	VGNC:70549

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