CPVT
MCID: CTC001
MIFTS: 55

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) malady

Genetic diseases, Rare diseases categories

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

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44NIH Rare Diseases, 66Wikipedia, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Catecholaminergic polymorphic ventricular tachycardia (cpvt) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. signs and symptoms include light-headedness, dizziness, and fainting. if untreated cpvt can cause a heart attack and death. cpvt is caused by mutations in the ryr2 or casq2 genes. when a ryr2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. when casq2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion. in some cases the underlying cause can not be determined. last updated: 1/25/2013

MalaCards: Catecholaminergic Polymorphic Ventricular Tachycardia, also known as catecholamine-induced polymorphic ventricular tachycardia, is related to long qt syndrome and malignant hyperthermia. An important gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia is CASQ2 (calsequestrin 2 (cardiac muscle)), and among its related pathways are Netrin Signaling and Salivary secretion. The compounds 4-chloro-m-cresol and cyclic adp-ribose have been mentioned in the context of this disorder. Affiliated tissues include heart and testes, and related mouse phenotypes are muscle and mortality/aging.

Wikipedia:66 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rhythm disorder of the ventricles of... more...

GeneReviews summary for cvt

Aliases & Classifications for Catecholaminergic Polymorphic Ventricular Tachycardia

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 63UMLS, 46Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

catecholaminergic polymorphic ventricular tachycardia 20 44 21 23 22
catecholamine-induced polymorphic ventricular tachycardia 20 44 22
familial polymorphic ventricular tachycardia 20 44 22
cpvt 20 22
fpvt 20 22
ventricular tachycardia, catecholaminergic polymorphic, 1 63
ventricular tachycardia, catecholaminergic polymorphic 46
bidirectional tachycardia induced by catecholamines 22
stress-induced polymorphic ventricular tachycardia 44
bidirectional tachycardia induced by catecholamine 44
polymorphic catecholergic ventricular tachycardia 44
ventricular tachycardia, familial polymorphic 46
double tachycardia induced by catecholamines 44
malignant paroxysmal ventricular tachycardia 44
multifocal ventricular premature beats 44
syncopal paroxysmal tachycardia 44
cvpt 44


Related Diseases for Catecholaminergic Polymorphic Ventricular Tachycardia

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18GeneCards, 19GeneDecks
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Diseases in the Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 family:

catecholaminergic polymorphic ventricular tachycardia Ryr2-Related Catecholaminergic Polymorphic Ventricular Tachycardia
Casq2-Related Catecholaminergic Polymorphic Ventricular Tachycardia Trdn-Related Catecholaminergic Polymorphic Ventricular Tachycardia
Calm1-Related Catecholaminergic Polymorphic Ventricular Tachycardia Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Diseases related to Catecholaminergic Polymorphic Ventricular Tachycardia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 23)
idRelated DiseaseScoreTop Affiliating Genes
1long qt syndrome31.2RYR2, ANK2, KCNJ2
2malignant hyperthermia30.5CASQ2, CALM1, RYR1, RYR2
3sudden cardiac death multi-gene panels30.4FKBP1B, ANK2, RYR2, RYR1, KCNJ2
4syncope10.7
5brugada syndrome10.6
6ryr2-related catecholaminergic polymorphic ventricular tachycardia10.5
7casq2-related catecholaminergic polymorphic ventricular tachycardia10.5
8trdn-related catecholaminergic polymorphic ventricular tachycardia10.5
9calm1-related catecholaminergic polymorphic ventricular tachycardia10.5
10ventricular tachycardia, catecholaminergic polymorphic, 110.5
11ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness10.5
12ventricular tachycardia, catecholaminergic polymorphic, 310.5
13ventricular tachycardia, catecholaminergic polymorphic, 410.5
14andersen-tawil syndrome10.4
15short qt syndrome10.4
16familial ventricular tachycardia10.4
17long qt syndrome 410.4
18ventricular tachycardia, catecholaminergic polymorphic, 210.4
19congenital heart disease10.0RYR2, KCNJ2
20central core myopathy10.0RYR2, RYR1
21arrhythmogenic right ventricular dysplasia10.0RYR1, RYR2
22hypokalemic periodic paralysis10.0RYR1, KCNJ2
23dilated cardiomyopathy10.0RYR2, CALR, RYR1

Graphical network of the top 20 diseases related to Catecholaminergic Polymorphic Ventricular Tachycardia:



Diseases related to catecholaminergic polymorphic ventricular tachycardia

Symptoms for Catecholaminergic Polymorphic Ventricular Tachycardia

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Drugs & Therapeutics for Catecholaminergic Polymorphic Ventricular Tachycardia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Search CenterWatch for Catecholaminergic Polymorphic Ventricular Tachycardia

Genetic Tests for Catecholaminergic Polymorphic Ventricular Tachycardia

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21GeneTests, 23GTR
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Genetic tests related to Catecholaminergic Polymorphic Ventricular Tachycardia:

id Genetic test Affiliating Genes
1 Catecholaminergic Polymorphic Ventricular Tachycardia Multi-Gene Panels21
2 Catecholaminergic Polymorphic Ventricular Tachycardia21 23 TRDN

Anatomical Context for Catecholaminergic Polymorphic Ventricular Tachycardia

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34MalaCards
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MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

34
Heart, Testes

Animal Models for Catecholaminergic Polymorphic Ventricular Tachycardia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.2KCNJ2, RYR1, RYR2, TRDN, CASQ2, CALR
2MP:00107686.6RYR2, CAMP, CALR, ANK2, ASPH, FKBP1B
3MP:00053856.6KCNJ2, FKBP1B, ASPH, ANK2, CALR, CASQ2
4MP:00053766.4KCNJ2, FKBP1B, ASPH, ANK2, CALR, CASQ2

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

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53PubMed
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Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia:

(show top 50)    (show all 167)
idTitleAuthorsYear
1
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. (24136861)
2014
2
Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT). (23549275)
2014
3
Triple mode of action of flecainide in catecholaminergic polymorphic ventricular tachycardia: reply. (23536607)
2013
4
Ca2+ signaling in human induced pluripotent stem cell-derived cardiomyocytes (iPS-CM) from normal and catecholaminergic polymorphic ventricular tachycardia (CPVT)-afflicted subjects. (23684427)
2013
5
New data on catecholaminergic polymorphic ventricular tachycardia in Japan: from the bench to the bedside. (23708865)
2013
6
Catecholaminergic polymorphic ventricular tachycardia detected by an implantable loop recorder in a child. (23917010)
2013
7
Abnormal propagation of calcium waves and ultrastructural remodeling in recessive catecholaminergic polymorphic ventricular tachycardia. (23674379)
2013
8
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. (24025405)
2013
9
Catecholaminergic polymorphic ventricular tachycardia found in an adolescent after a methylenedioxymethamphetamine and marijuana-induced cardiac arrest. (22584762)
2012
10
Clinical characteristics and mutational analysis of the RyR2 gene in seven Czech families with catecholaminergic polymorphic ventricular tachycardia. (22519458)
2012
11
Flecainide and antiarrhythmic effects in a mouse model of catecholaminergic polymorphic ventricular tachycardia. (22867967)
2012
12
Effects of flecainide therapy on inappropriate shocks and arrhythmias in catecholaminergic polymorphic ventricular tachycardia. (22672791)
2012
13
Catecholaminergic polymorphic ventricular tachycardia. (23022705)
2012
14
A classic electrocardiographic manifestation of catecholaminergic polymorphic ventricular tachycardia. (21806698)
2012
15
Treatment of asymptomatic catecholaminergic polymorphic ventricular tachycardia. (22642633)
2012
16
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. (22787013)
2012
17
Flecainide suppresses defibrillator-induced storming in catecholaminergic polymorphic ventricular tachycardia. (22553997)
2012
18
Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia. (22119737)
2012
19
Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia. (22421959)
2012
20
Bidirectional ventricular tachycardia: a hallmark of catecholaminergic polymorphic ventricular tachycardia. (22557844)
2012
21
Modeling Catecholaminergic Polymorphic Ventricular Tachycardia using Induced Pluripotent Stem Cell-derived Cardiomyocytes. (23908839)
2012
22
Mechanism underlying catecholaminergic polymorphic ventricular tachycardia and approaches to therapy. (21872879)
2011
23
Case of undiagnosed catecholaminergic polymorphic ventricular tachycardia presenting with ventricular fibrillation after administration of succinylcholine during anesthesia for modified electroconvulsive therapy. (21682817)
2011
24
Mutation-linked defective interdomain interactions within ryanodine receptor cause aberrant CaA^a8_release leading to catecholaminergic polymorphic ventricular tachycardia. (21768539)
2011
25
Mechanism of antiarrhythmic effects of flecainide in catecholaminergic polymorphic ventricular tachycardia. (21885838)
2011
26
Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry. (21148745)
2011
27
Molecular basis of catecholaminergic polymorphic ventricular tachycardia. (19121813)
2009
28
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. (19926015)
2009
29
Increased Ca2+ sensitivity of the ryanodine receptor mutant RyR2R4496C underlies catecholaminergic polymorphic ventricular tachycardia. (19096022)
2009
30
Ten-year follow-up of cardiac sympathectomy in a young woman with catecholaminergic polymorphic ventricular tachycardia and an implantable cardioverter defibrillator. (19298566)
2009
31
Left cardiac sympathetic denervation for the treatment of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia using video-assisted thoracic surgery. (19467503)
2009
32
Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia. (19216760)
2009
33
Catecholaminergic polymorphic ventricular tachycardia: a current overview. (19371192)
2009
34
Mechanisms and clinical management of inherited channelopathies: long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome. (19631908)
2009
35
Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia. (19843922)
2009
36
The long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. (19602163)
2009
37
Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. (19398665)
2009
38
A Novel mutation of F189L in CASQ2 in families with catecholaminergic polymorphic ventricular tachycardia]. (18543230)
2008
39
Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin. (18399795)
2008
40
A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. (17666061)
2007
41
Calsequestrin mutation and catecholaminergic polymorphic ventricular tachycardia: a simulation study of cellular mechanism. (17531962)
2007
42
Unraveling the mechanisms of catecholaminergic polymorphic ventricular tachycardia. (17959506)
2006
43
Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights. (15913575)
2005
44
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. (16272262)
2005
45
Calcium channel antagonism reduces exercise-induced ventricular arrhythmias in catecholaminergic polymorphic ventricular tachycardia patients with RyR2 mutations. (15720454)
2005
46
Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia. (15176428)
2004
47
RYR2 and CASQ2 mutations in patients suffering from catecholaminergic polymorphic ventricular tachycardia. (12551888)
2003
48
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. (12386154)
2002
49
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. (11208676)
2001
50
Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. (7867192)
1995

Variations for Catecholaminergic Polymorphic Ventricular Tachycardia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Catecholaminergic Polymorphic Ventricular Tachycardia:

1
id Gene Name Type Significance SNP ID Assembly Location
1RYR2NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu)single nucleotide variantPathogenicrs121918597GRCh37Chr 1, 237798237: 237798237
2RYR2NM_001035.2(RYR2): c.7422G> C (p.Arg2474Ser)single nucleotide variantPathogenicrs121918598GRCh37Chr 1, 237811823: 237811823
3RYR2NM_001035.2(RYR2): c.12312C> G (p.Asn4104Lys)single nucleotide variantPathogenicrs121918599GRCh37Chr 1, 237947324: 237947324
4RYR2NM_001035.2(RYR2): c.13489C> T (p.Arg4497Cys)single nucleotide variantPathogenicrs121918600GRCh37Chr 1, 237954741: 237954741
5RYR2NM_001035.2(RYR2): c.6982C> T (p.Pro2328Ser)single nucleotide variantPathogenicrs121918603GRCh37Chr 1, 237802368: 237802368
6RYR2NM_001035.2(RYR2): c.13957G> T (p.Val4653Phe)single nucleotide variantPathogenicrs121918604GRCh37Chr 1, 237961337: 237961337
7RYR2NM_001035.2(RYR2): c.12602A> G (p.Gln4201Arg)single nucleotide variantPathogenicrs121918605GRCh37Chr 1, 237947614: 237947614
8RYR2NM_001035.2(RYR2): c.14579C> G (p.Ala4860Gly)single nucleotide variantPathogenicrs121918606GRCh37Chr 1, 237982481: 237982481
9RYR2NM_001035.2: c.169-199_273+819del1123deletionPathogenicGRCh37Chr 1, 237493979: 237495101

Expression for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

Search GEO for disease gene expression data for Catecholaminergic Polymorphic Ventricular Tachycardia.

Pathways for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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51PathCards, 54QIAGEN, 31KEGG, 56Reactome, 61Thomson Reuters, 5Cell Signaling Technology, 39NCBI BioSystems Database, 52PharmGKB
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Pathways related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6RYR1, RYR2
2
Show member pathways
9.2CAMP, CALM1, KCNJ2
3
Show member pathways
9.2RYR1, RYR2, TRDN
49.1CALR, RYR2, RYR1
5
Show member pathways
9.0RYR1, RYR2, CALM1
6
Show member pathways
9.0RYR1, RYR2, CALM1
79.0CALM1, RYR2, RYR1
88.9CALM1, CALR, RYR1
9
Show member pathways
8.7KCNJ2, CALM1, RYR2, RYR1
10
Show member pathways
8.7RYR1, RYR2, CALM1, KCNJ2
11
Show member pathways
Calcium Regulation in the Cardiac Cell39
8.3CALM1, CALR, CASQ2, RYR2, RYR1
128.2RYR2, CASQ2, ANK2, FKBP1B, KCNJ2

Compounds for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 25HMDB, 62Tocris Bioscience, 3BitterDB
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Compounds related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
14-chloro-m-cresol469.9RYR1, RYR2
2cyclic adp-ribose469.9RYR1, RYR2
3naphthoquinone469.9RYR1, TRDN
4procaine46 30 1211.9RYR1, RYR2
5dantrolene30 46 1211.9RYR2, RYR1
6ruthenium red309.8RYR2, RYR1
72-mercaptoethanol469.7RYR1, TRDN
8ca2+309.7RYR1, RYR2
9ruthenium469.6TRDN, RYR2, RYR1
10mg2+309.6RYR1, RYR2, KCNJ2
11isoflurane52 46 1211.6CALM1, RYR1
12pip2469.5RYR1, KCNJ2
13spermine30 46 25 1212.4CALR, KCNJ2
14thapsigargin46 6210.4CALR, RYR2, RYR1
15carvedilol46 52 30 1212.4RYR1, RYR2, FKBP1B
16halothane46 52 30 1212.3CALR, RYR1
17tacrolimus46 52 1211.3RYR1, RYR2, FKBP1B
18phospholipid469.2CAMP, RYR2, RYR1
19potassium46 25 1211.2KCNJ2, CAMP, RYR2, RYR1
20chloride469.1CALR, CAMP, RYR2, RYR1
21caffeine46 30 3 52 25 1214.1RYR1, RYR2, TRDN, FKBP1B
22magnesium46 25 1211.1RYR1, RYR2, CALR, KCNJ2
23dihydropyridine469.1ASPH, CALR, TRDN, RYR1
24nitric oxide46 25 1211.0RYR1, RYR2, CAMP, CALR
25glutamate468.9CALR, CAMP, RYR2, RYR1
26atp46 309.8RYR1, RYR2, CAMP, CALR
27isoproterenol46 129.7KCNJ2, FKBP1B, CAMP, RYR2, RYR1
28inositol 1,4,5 trisphosphate468.7ANK2, CALR, RYR2, RYR1
29lipid468.5FKBP1B, CALR, CAMP, RYR2, RYR1
30ryanodine46 30 629.1RYR1, FKBP1B, ASPH, ANK2, CALR, CASQ2
31calcium46 52 25 128.9KCNJ2, FKBP1B, ASPH, ANK2, CALM1, CALR

GO Terms for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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17Gene Ontology
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Cellular components related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated calcium channel complexGO:0058919.9TRDN, CASQ2
2junctional membrane complexGO:0303149.6TRDN, RYR1
3smooth endoplasmic reticulumGO:0057909.6RYR1, KCNJ2
4sarcoplasmic reticulum lumenGO:0330189.2TRDN, CASQ2, CALR, ASPH
5intercalated discGO:0147049.2KCNJ2, ANK2
6sarcoplasmic reticulumGO:0165299.2CASQ2, TRDN, RYR2, RYR1
7T-tubuleGO:0303158.8RYR1, ANK2, KCNJ2
8calcium channel complexGO:0347048.8FKBP1B, ASPH, CASQ2, TRDN, RYR2
9junctional sarcoplasmic reticulum membraneGO:0147018.7ASPH, CASQ2, TRDN, RYR2, RYR1
10Z discGO:0300188.7FKBP1B, ANK2, CASQ2, RYR2
11intracellularGO:0056228.7CASQ2, CALR, ANK2
12sarcoplasmic reticulum membraneGO:0330178.2RYR1, RYR2, TRDN, CASQ2, ASPH, FKBP1B
13plasma membraneGO:0058867.6ASPH, ANK2, TRDN, RYR2, RYR1, KCNJ2

Biological processes related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards/GeneDecks:

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1Purkinje myocyte to ventricular cardiac muscle cell signalingGO:08602910.2CASQ2, RYR2
2sequestering of calcium ionGO:05120810.1CASQ2, CALR
3regulation of membrane repolarizationGO:06030610.1KCNJ2, CASQ2
4positive regulation of sequestering of calcium ionGO:05128410.0FKBP1B, RYR2
5positive regulation of ryanodine-sensitive calcium-release channel activityGO:06031610.0ASPH, TRDN
6cell communication by electrical coupling involved in cardiac conductionGO:0860649.9FKBP1B, RYR2
7response to redox stateGO:0517759.9FKBP1B, RYR2
8protein maturation by protein foldingGO:0224179.9CALR, FKBP1B
9detection of calcium ionGO:0055139.8RYR2, CASQ2, ASPH
10regulation of cell communication by electrical couplingGO:0106499.8TRDN, CASQ2, ASPH
11calcium-mediated signaling using intracellular calcium sourceGO:0355849.8FKBP1B, RYR2
12response to caffeineGO:0310009.8RYR2, RYR1
13negative regulation of ryanodine-sensitive calcium-release channel activityGO:0603159.7TRDN, CASQ2, FKBP1B
14regulation of ryanodine-sensitive calcium-release channel activityGO:0603149.7FKBP1B, ASPH
15sarcoplasmic reticulum calcium ion transportGO:0702969.7ANK2, RYR2
16regulation of cardiac muscle cell membrane potentialGO:0860369.7ANK2, TRDN
17cellular response to caffeineGO:0713139.7CASQ2, RYR2, RYR1
18regulation of release of sequestered calcium ion into cytosolGO:0512799.6ANK2, TRDN
19regulation of cardiac muscle contractionGO:0551179.5ANK2, RYR2
20calcium ion transmembrane transportGO:0705889.5ASPH, FKBP1B
21release of sequestered calcium ion into cytosolGO:0512099.5RYR2, RYR1
22regulation of heart rateGO:0020279.4ANK2, CASQ2, RYR2
23cardiac muscle contractionGO:0600489.4ANK2, CASQ2, RYR2
24ventricular cardiac muscle cell action potentialGO:0860059.4RYR2, ANK2
25cytosolic calcium ion homeostasisGO:0514809.4RYR1, RYR2, FKBP1B
26muscle contractionGO:0069369.4ASPH, TRDN, RYR1
27regulation of heart rate by cardiac conductionGO:0860919.3ANK2, KCNJ2
28ion transmembrane transportGO:0342209.3RYR1, RYR2, TRDN, CASQ2
29regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:0108809.3FKBP1B, ASPH, CASQ2, TRDN
30release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:0148089.1FKBP1B, TRDN, RYR2, RYR1
31transmembrane transportGO:0550859.1CASQ2, TRDN, RYR2, RYR1
32cellular calcium ion homeostasisGO:0068749.0ANK2, CALR, TRDN, RYR2
33regulation of protein stabilityGO:0316478.9ANK2, ASPH
34regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:0108818.5RYR2, CASQ2, ANK2, ASPH, FKBP1B

Molecular functions related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1calcium channel activityGO:0052629.6RYR1, RYR2
2calcium-release channel activityGO:0152789.5RYR2, RYR1
3ryanodine-sensitive calcium-release channel activityGO:0052199.1FKBP1B, RYR2, RYR1
4protein binding, bridgingGO:0306749.0TRDN, ANK2
5calcium ion bindingGO:0055098.5ASPH, CALR, CASQ2, RYR2, RYR1
6ion channel bindingGO:0443258.2RYR2, TRDN, ANK2, ASPH, FKBP1B
7protein bindingGO:0055156.4FKBP1B, ASPH, ANK2, CALR, CAMP, CASQ2

Products for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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