CPVT2
MCID: VNT010
MIFTS: 46

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 (CPVT2)

Categories: Cancer diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

MalaCards integrated aliases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 57 72 29 13 6
Catecholaminergic Polymorphic Ventricular Tachycardia 2 12 15
Stress-Induced Polymorphic Ventricular Tachycardia 72 70
Bidirectional Tachycardia 72 70
Vtsip 57 72
Cpvt2 57 72
Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 2 39
Ventricular Tachycardia, Stress-Induced Polymorphic; Vtsip 57
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 70
Ventricular Tachycardia, Stress-Induced Polymorphic 57
Double Tachycardia Induced by Catecholamines 72
Malignant Paroxysmal Ventricular Tachycardia 72
Paroxysmal Familial Ventricular Fibrillation 70
Multifocal Ventricular Premature Beats 72
Multifocal Premature Ventricular Beats 70
Paroxysmal Ventricular Fibrillation 72
Syncopal Paroxysmal Tachycardia 72
Syncopal Tachyarythmia 72
Multifocal Pvcs 70
Cvpt2 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
ventricular tachycardia, catecholaminergic polymorphic, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060676
OMIM® 57 611938
OMIM Phenotypic Series 57 PS604772
MeSH 44 D017180
ICD10 32 I47.2
MedGen 41 C2677794
UMLS 70 C0264903 C0340493 C1631597 more

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

UniProtKB/Swiss-Prot : 72 Ventricular tachycardia, catecholaminergic polymorphic, 2: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT2 inheritance is autosomal recessive.

MalaCards based summary : Ventricular Tachycardia, Catecholaminergic Polymorphic, 2, also known as catecholaminergic polymorphic ventricular tachycardia 2, is related to ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy and catecholaminergic polymorphic ventricular tachycardia, and has symptoms including seizures and syncope. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 is CASQ2 (Calsequestrin 2), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include heart, and related phenotypes are syncope and ventricular tachycardia

Disease Ontology : 12 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has material basis in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13.

More information from OMIM: 611938 PS604772

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Diseases in the Catecholaminergic Polymorphic Ventricular Tachycardia family:

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 Catecholaminergic Polymorphic Ventricular Tachycardia 5

Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 31.7 TRDN RYR2 RYR1 PPP2R3A FKBP1B CASQ2
2 catecholaminergic polymorphic ventricular tachycardia 30.4 VANGL1 TRDN RYR3 RYR2 RYR1 FKBP1B
3 cardiac arrest 29.9 TRDN RYR2 CASQ2
4 long qt syndrome 1 29.7 TRDN RYR2 KCND2 FKBP1B CASQ2 AKAP6
5 arrhythmogenic right ventricular dysplasia, familial, 2 29.3 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ2
6 ventricular fibrillation, paroxysmal familial, 2 11.6
7 bidirectional tachycardia 11.5
8 paroxysmal ventricular fibrillation 11.5
9 idiopathic ventricular fibrillation, non brugada type 11.3
10 ventricular tachycardia, catecholaminergic polymorphic, 4 11.0
11 ventricular tachycardia, catecholaminergic polymorphic, 3 10.2 RYR2 CASQ2
12 long qt syndrome 3 10.1 TRDN RYR2 CASQ2
13 timothy syndrome 10.1 TRDN RYR2 CASQ2
14 andersen cardiodysrhythmic periodic paralysis 10.1 TRDN RYR2 CASQ2
15 ventricular fibrillation, paroxysmal familial, 1 10.1
16 progressive familial heart block, type ia 10.0
17 arrhythmogenic right ventricular dysplasia, familial, 12 10.0 RYR2 FKBP1B
18 jervell and lange-nielsen syndrome 1 10.0
19 measles 10.0
20 seizure disorder 10.0
21 central core disease of muscle 10.0 RYR2 RYR1
22 arrhythmogenic right ventricular cardiomyopathy 9.9
23 isolated elevated serum creatine phosphokinase levels 9.9 TRDN RYR2 RYR1
24 long qt syndrome 2 9.9 TRDN RYR2 KCND2 CASQ2
25 resting heart rate, variation in 9.9
26 syncope 9.9
27 hypokalemic periodic paralysis, type 1 9.9
28 progressive familial heart block, type ib 9.9
29 orthostatic intolerance 9.9
30 left bundle branch hemiblock 9.9
31 right bundle branch block 9.9
32 enthesopathy 9.9
33 aortic aneurysm 9.9
34 pulmonary embolism 9.9
35 periodic paralysis 9.9
36 digitalis poisoning 9.9
37 congenital fiber-type disproportion 9.8 TRDN RYR3 RYR1
38 capillary malformations, congenital 9.8 TRDN RYR3 RYR2 RYR1
39 congenital structural myopathy 9.8 TRDN RYR3 RYR2 RYR1
40 myasthenic syndrome, congenital, 5 9.8 TRDN RYR2 KCND2 FKBP1B CASQ2
41 crouzon syndrome with acanthosis nigricans 9.8 KCND2 FKBP1A AKAP6
42 long qt syndrome 9.8 TRDN RYR2 KCND2 FKBP1B CASQ2
43 brugada syndrome 9.8 TRDN RYR2 KCND2 FKBP1B CASQ2
44 capillary disease 9.7 RYR3 RYR1
45 left ventricular noncompaction 9.7 RYR2 FKBP1B FKBP1A CASQ2
46 congenital myasthenic syndrome 9.5 TRDN RYR2 RYR1 KCND2 FKBP1B CASQ2
47 heart conduction disease 9.3 TRDN RYR2 RYR1 KCND2 FKBP1B CASQ2
48 central core myopathy 9.2 TRDN RYR3 RYR2 RYR1 FKBP1B FKBP1A
49 malignant hyperthermia 8.9 TRDN TFDP3 RYR3 RYR2 RYR1 FKBP1B

Graphical network of the top 20 diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:



Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Symptoms & Phenotypes for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

31
# Description HPO Frequency HPO Source Accession
1 syncope 31 HP:0001279
2 ventricular tachycardia 31 HP:0004756
3 sudden death 31 HP:0001699
4 bradycardia 31 HP:0001662
5 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures

Cardiovascular Heart:
syncope
sudden death
polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion
bradycardia, relative resting

Clinical features from OMIM®:

611938 (Updated 20-May-2021)

UMLS symptoms related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:


seizures; syncope

MGI Mouse Phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 AKAP6 ANO1 ASPH CASQ2 FKBP1A FKBP1B
2 growth/size/body region MP:0005378 9.8 AKAP6 ANO1 ASPH CASQ2 CREB3 FKBP1A
3 muscle MP:0005369 9.36 AKAP6 ANO1 ASPH CASQ2 FKBP1A FKBP1B

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Search Clinical Trials , NIH Clinical Center for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Genetic tests related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

# Genetic test Affiliating Genes
1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 29 CASQ2

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

MalaCards organs/tissues related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

40
Heart

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Articles related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

(show all 20)
# Title Authors PMID Year
1
Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia. 6 57
16908766 2006
2
A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. 6 57
11704930 2001
3
A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia. 6
27157848 2016
4
Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21. 57
11401939 2001
5
Conditional ablation and conditional rescue models for Casq2 elucidate the role of development and of cell-type specific expression of Casq2 in the CPVT2 phenotype. 61
29452352 2018
6
The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry. 61
28158428 2018
7
Viral delivered gene therapy to treat catecholaminergic polymorphic ventricular tachycardia (CPVT2) in mouse models. 61
28336343 2017
8
Patient-Specific Drug Screening Using a Human Induced Pluripotent Stem Cell Model of Catecholaminergic Polymorphic Ventricular Tachycardia Type 2. 61
28630169 2017
9
SK4 K+ channels are therapeutic targets for the treatment of cardiac arrhythmias. 61
28219898 2017
10
Adeno-associated virus-mediated CASQ2 delivery rescues phenotypic alterations in a patient-specific model of recessive catecholaminergic polymorphic ventricular tachycardia. 61
27711080 2016
11
Patient Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Drug Development and Screening In Catecholaminergic Polymorphic Ventricular Tachycardia. 61
27909533 2016
12
Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations. 61
26153920 2015
13
Alpha blockade potentiates CPVT therapy in calsequestrin-mutant mice. 61
24768611 2014
14
The role of mutant protein level in autosomal recessive catecholamine dependent polymorphic ventricular tachycardia (CPVT2). 61
24070655 2013
15
Flecainide therapy suppresses exercise-induced ventricular arrhythmias in patients with CASQ2-associated catecholaminergic polymorphic ventricular tachycardia. 61
23954267 2013
16
Exercise training improves cardiac function and attenuates arrhythmia in CPVT mice. 61
23042908 2012
17
Glycosylation of skeletal calsequestrin: implications for its function. 61
22170046 2012
18
Optimizing catecholaminergic polymorphic ventricular tachycardia therapy in calsequestrin-mutant mice. 61
20620233 2010
19
Catecholaminergic polymorphic ventricular tachycardia from bedside to bench and beyond. 61
19068246 2009
20
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. 61
16818210 2006

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

ClinVar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

6 (show top 50) (show all 91)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CASQ2 NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter) SNV Pathogenic 1033371 GRCh37: 1:116269635-116269635
GRCh38: 1:115727014-115727014
2 CASQ2 NM_001232.4(CASQ2):c.737+2T>A SNV Pathogenic 1033372 GRCh37: 1:116269611-116269611
GRCh38: 1:115726990-115726990
3 CASQ2 NM_001232.3(CASQ2):c.97C>T (p.Arg33Ter) SNV Pathogenic 41043 rs397507556 GRCh37: 1:116311066-116311066
GRCh38: 1:115768445-115768445
4 CASQ2 NM_001232.3(CASQ2):c.919G>C (p.Asp307His) SNV Pathogenic 17610 rs121434549 GRCh37: 1:116247833-116247833
GRCh38: 1:115705212-115705212
5 CASQ2 NM_001232.3(CASQ2):c.500T>A (p.Leu167His) SNV Pathogenic 17612 rs121434550 GRCh37: 1:116280877-116280877
GRCh38: 1:115738256-115738256
6 CASQ2 NM_001232.3(CASQ2):c.62del (p.Glu21fs) Deletion Pathogenic 41042 rs397507555 GRCh37: 1:116311101-116311101
GRCh38: 1:115768480-115768480
7 CASQ2 NM_001232.3(CASQ2):c.339_354del (p.Ser113fs) Deletion Pathogenic 17611 rs786205106 GRCh37: 1:116283415-116283430
GRCh38: 1:115740794-115740809
8 CASQ2 NM_001232.3(CASQ2):c.539A>G (p.Lys180Arg) SNV Pathogenic 265850 rs886039816 GRCh37: 1:116275589-116275589
GRCh38: 1:115732968-115732968
9 CASQ2 NM_001232.3(CASQ2):c.164A>G (p.Tyr55Cys) SNV Likely pathogenic 427946 rs1436844070 GRCh37: 1:116310999-116310999
GRCh38: 1:115768378-115768378
10 CASQ2 NM_001232.3(CASQ2):c.783G>A (p.Trp261Ter) SNV Likely pathogenic 427947 rs776874142 GRCh37: 1:116268129-116268129
GRCh38: 1:115725508-115725508
11 RYR2 NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr) SNV Likely pathogenic 427948 rs1553322494 GRCh37: 1:237947008-237947008
GRCh38: 1:237783708-237783708
12 CASQ2 NM_001232.3(CASQ2):c.381C>T (p.Gly127=) SNV Likely pathogenic 801535 rs775663612 GRCh37: 1:116283388-116283388
GRCh38: 1:115740767-115740767
13 CASQ2 NM_001232.4(CASQ2):c.421-14G>A SNV Conflicting interpretations of pathogenicity 44164 rs139281637 GRCh37: 1:116280970-116280970
GRCh38: 1:115738349-115738349
14 CASQ2 NM_001232.4(CASQ2):c.421-15C>G SNV Conflicting interpretations of pathogenicity 44165 rs199939582 GRCh37: 1:116280971-116280971
GRCh38: 1:115738350-115738350
15 CASQ2 NM_001232.4(CASQ2):c.421-15C>T SNV Uncertain significance 44166 rs199939582 GRCh37: 1:116280971-116280971
GRCh38: 1:115738350-115738350
16 CASQ2 NM_001232.3(CASQ2):c.855G>C (p.Leu285=) SNV Uncertain significance 292130 rs148562107 GRCh37: 1:116247897-116247897
GRCh38: 1:115705276-115705276
17 CASQ2 NM_001232.3(CASQ2):c.118A>G (p.Lys40Glu) SNV Uncertain significance 190757 rs786205797 GRCh37: 1:116311045-116311045
GRCh38: 1:115768424-115768424
18 CASQ2 NC_000001.11:g.115768762C>T SNV Uncertain significance 874250 GRCh37: 1:116311383-116311383
GRCh38: 1:115768762-115768762
19 CASQ2 NC_000001.11:g.115768802A>T SNV Uncertain significance 875171 GRCh37: 1:116311423-116311423
GRCh38: 1:115768802-115768802
20 CASQ2 NM_001232.3(CASQ2):c.926A>T (p.Asp309Val) SNV Uncertain significance 811814 rs72703607 GRCh37: 1:116247826-116247826
GRCh38: 1:115705205-115705205
21 CASQ2 NM_001232.3(CASQ2):c.141G>C (p.Lys47Asn) SNV Uncertain significance 522229 rs1553197917 GRCh37: 1:116311022-116311022
GRCh38: 1:115768401-115768401
22 CASQ2 NM_001232.3(CASQ2):c.475G>A (p.Glu159Lys) SNV Uncertain significance 292132 rs375598471 GRCh37: 1:116280902-116280902
GRCh38: 1:115738281-115738281
23 CASQ2 NM_001232.3(CASQ2):c.730_731inv (p.His244Cys) Inversion Uncertain significance 238671 GRCh37: 1:116269619-116269620
GRCh38: 1:115726998-115726999
24 CASQ2 NM_001232.3(CASQ2):c.943G>A (p.Val315Ile) SNV Uncertain significance 292128 rs771188512 GRCh37: 1:116245613-116245613
GRCh38: 1:115702992-115702992
25 CASQ2 NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser) SNV Uncertain significance 228470 rs200643387 GRCh37: 1:116247878-116247878
GRCh38: 1:115705257-115705257
26 CASQ2 NM_001232.3(CASQ2):c.475G>A (p.Glu159Lys) SNV Uncertain significance 292132 rs375598471 GRCh37: 1:116280902-116280902
GRCh38: 1:115738281-115738281
27 CASQ2 NM_001232.3(CASQ2):c.1052A>G (p.Asp351Gly) SNV Uncertain significance 191441 rs200899037 GRCh37: 1:116244010-116244010
GRCh38: 1:115701389-115701389
28 CASQ2 NM_001232.4(CASQ2):c.270C>A (p.Gly90=) SNV Uncertain significance 178011 rs72554056 GRCh37: 1:116287498-116287498
GRCh38: 1:115744877-115744877
29 CASQ2 NM_001232.4(CASQ2):c.198G>A (p.Thr66=) SNV Uncertain significance 44161 rs74114618 GRCh37: 1:116310965-116310965
GRCh38: 1:115768344-115768344
30 CASQ2 NM_001232.3(CASQ2):c.985C>T (p.Pro329Ser) SNV Uncertain significance 190747 rs28730713 GRCh37: 1:116245571-116245571
GRCh38: 1:115702950-115702950
31 CASQ2 NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn) SNV Uncertain significance 162810 rs141314684 GRCh37: 1:116247824-116247824
GRCh38: 1:115705203-115705203
32 CASQ2 NM_001232.3(CASQ2):c.898G>A (p.Asp300Asn) SNV Uncertain significance 518768 rs376147306 GRCh37: 1:116247854-116247854
GRCh38: 1:115705233-115705233
33 CASQ2 NM_001232.3(CASQ2):c.752G>A (p.Arg251His) SNV Uncertain significance 191442 rs200265771 GRCh37: 1:116268160-116268160
GRCh38: 1:115725539-115725539
34 CASQ2 NM_001232.3(CASQ2):c.*503G>A SNV Uncertain significance 292121 rs72554068 GRCh37: 1:116243359-116243359
GRCh38: 1:115700738-115700738
35 CASQ2 NM_001232.4(CASQ2):c.533-6C>T SNV Uncertain significance 162816 rs545407254 GRCh37: 1:116275601-116275601
GRCh38: 1:115732980-115732980
36 CASQ2 NM_001232.3(CASQ2):c.1186G>A (p.Asp396Asn) SNV Uncertain significance 191439 rs368007942 GRCh37: 1:116243876-116243876
GRCh38: 1:115701255-115701255
37 CASQ2 NM_001232.3(CASQ2):c.225C>T (p.Ile75=) SNV Uncertain significance 463660 rs1373884863 GRCh37: 1:116310938-116310938
GRCh38: 1:115768317-115768317
38 CASQ2 NM_001232.4(CASQ2):c.173A>T (p.Glu58Val) SNV Uncertain significance 228467 rs764732977 GRCh37: 1:116310990-116310990
GRCh38: 1:115768369-115768369
39 CASQ2 NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) SNV Uncertain significance 162814 rs146664754 GRCh37: 1:116275561-116275561
GRCh38: 1:115732940-115732940
40 CASQ2 NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) SNV Uncertain significance 162820 rs199750975 GRCh37: 1:116283431-116283431
GRCh38: 1:115740810-115740810
41 CASQ2 NM_001232.4(CASQ2):c.376G>C (p.Asp126His) SNV Uncertain significance 162818 rs727502908 GRCh37: 1:116283393-116283393
GRCh38: 1:115740772-115740772
42 CASQ2 NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) SNV Uncertain significance 162820 rs199750975 GRCh37: 1:116283431-116283431
GRCh38: 1:115740810-115740810
43 CASQ2 NM_001232.4(CASQ2):c.376G>C (p.Asp126His) SNV Uncertain significance 162818 rs727502908 GRCh37: 1:116283393-116283393
GRCh38: 1:115740772-115740772
44 CASQ2 NM_001232.3(CASQ2):c.*929C>T SNV Uncertain significance 292119 rs547458797 GRCh37: 1:116242933-116242933
GRCh38: 1:115700312-115700312
45 CASQ2 NM_001232.3(CASQ2):c.-226C>G SNV Uncertain significance 292146 rs72703672 GRCh37: 1:116311388-116311388
GRCh38: 1:115768767-115768767
46 CASQ2 NM_001232.3(CASQ2):c.1121A>T (p.Asp374Val) SNV Uncertain significance 292125 rs886045158 GRCh37: 1:116243941-116243941
GRCh38: 1:115701320-115701320
47 CASQ2 NM_001232.3(CASQ2):c.-222C>T SNV Uncertain significance 292144 rs72703671 GRCh37: 1:116311384-116311384
GRCh38: 1:115768763-115768763
48 CASQ2 NM_001232.3(CASQ2):c.*457C>T SNV Uncertain significance 292123 rs375002557 GRCh37: 1:116243405-116243405
GRCh38: 1:115700784-115700784
49 CASQ2 NM_001232.3(CASQ2):c.-234C>A SNV Uncertain significance 292147 rs553316024 GRCh37: 1:116311396-116311396
GRCh38: 1:115768775-115768775
50 CASQ2 NM_001232.3(CASQ2):c.-105A>G SNV Uncertain significance 292133 rs886045161 GRCh37: 1:116311267-116311267
GRCh38: 1:115768646-115768646

UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

72
# Symbol AA change Variation ID SNP ID
1 CASQ2 p.Asp307His VAR_016075 rs121434549
2 CASQ2 p.Leu167His VAR_044118 rs121434550
3 CASQ2 p.Arg33Gln VAR_055234 rs749547712
4 CASQ2 p.Lys180Arg VAR_076546 rs886039816

Expression for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2.

Pathways for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Pathways related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 RYR3 RYR2 RYR1 PRKCD PPP1R9B CREB3
2
Show member pathways
13.17 TRDN RYR3 RYR2 RYR1 FKBP1B ASPH
3
Show member pathways
12.89 RYR2 RYR1 PRKCD FKBP1A AKAP6
4
Show member pathways
12.79 RYR3 RYR2 RYR1 PPP2R3A CREB3
5
Show member pathways
12.63 RYR3 RYR2 RYR1 PRKCD CREB3
6
Show member pathways
12.58 RYR3 RYR2 RYR1 PRKCD PPP2R3A PPP1R9B
7
Show member pathways
12.53 TRDN RYR3 RYR2 RYR1 KCND2 FKBP1B
8
Show member pathways
12.47 RYR3 RYR2 RYR1 CREB3
9
Show member pathways
12.28 RYR3 RYR2 RYR1 PRKCD
10 12.14 PRKCD PPP2R3A PPP1R9B KCND2
11 12.01 TRDN RYR3 RYR2 RYR1 CASQ2 ASPH
12
Show member pathways
12 TRDN RYR3 RYR2 RYR1 FKBP1B ASPH
13 11.9 RYR3 RYR2 RYR1
14 11.87 RYR3 RYR2 RYR1
15
Show member pathways
11.66 RYR3 RYR2 RYR1 PRKCD FKBP1A CREB3
16 11.61 TRDN RYR2 CASQ2 ASPH
17 11.38 RYR2 FKBP1B CASQ2
18 11.3 RYR3 RYR2 RYR1
19 10.61 RYR3 RYR2 RYR1

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Cellular components related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.34 VANGL1 TRDN RYR3 RYR2 RYR1 PRKCD
2 Z disc GO:0030018 9.8 RYR3 RYR2 RYR1 FKBP1B FKBP1A CASQ2
3 junctional sarcoplasmic reticulum membrane GO:0014701 9.73 TRDN RYR2 RYR1 CASQ2 ASPH AKAP6
4 calcium channel complex GO:0034704 9.7 RYR3 RYR2 RYR1 FKBP1B CASQ2 ASPH
5 sarcolemma GO:0042383 9.65 RYR3 RYR2 RYR1
6 smooth endoplasmic reticulum GO:0005790 9.58 RYR3 RYR2 RYR1
7 sarcoplasmic reticulum membrane GO:0033017 9.56 TRDN RYR3 RYR2 RYR1 FKBP1B FKBP1A
8 sarcoplasmic reticulum lumen GO:0033018 9.54 TRDN CASQ2 ASPH
9 terminal cisterna GO:0014802 9.46 RYR1 FKBP1A
10 ryanodine receptor complex GO:1990425 9.43 RYR1 FKBP1A
11 sarcoplasmic reticulum GO:0016529 9.28 TRDN RYR3 RYR2 RYR1 FKBP1B FKBP1A

Biological processes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.14 VANGL1 RYR2 RYR1 PPP1R9B PHC3 ANO1
2 ion transport GO:0006811 10.05 RYR3 RYR2 RYR1 KCND2 ANO1
3 transmembrane transport GO:0055085 10.04 RYR3 RYR2 RYR1 KCND2 ANO1
4 calcium ion transmembrane transport GO:0070588 9.88 RYR3 RYR2 RYR1 FKBP1A ASPH
5 calcium ion transport GO:0006816 9.85 RYR3 RYR2 RYR1
6 cellular calcium ion homeostasis GO:0006874 9.84 TRDN RYR3 RYR2 RYR1
7 muscle contraction GO:0006936 9.81 TRDN RYR1 ASPH
8 cellular response to calcium ion GO:0071277 9.8 RYR3 RYR1 ASPH
9 negative regulation of phosphoprotein phosphatase activity GO:0032515 9.77 PPP1R9B FKBP1B FKBP1A
10 regulation of cytosolic calcium ion concentration GO:0051480 9.76 RYR2 RYR1 FKBP1B
11 regulation of heart rate GO:0002027 9.73 RYR2 FKBP1B CASQ2
12 release of sequestered calcium ion into cytosol GO:0051209 9.71 RYR3 RYR2 RYR1 FKBP1B
13 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.7 FKBP1B FKBP1A ASPH
14 detection of calcium ion GO:0005513 9.69 RYR2 CASQ2 ASPH
15 chaperone-mediated protein folding GO:0061077 9.68 FKBP1B FKBP1A
16 calcium-mediated signaling using intracellular calcium source GO:0035584 9.67 RYR2 FKBP1B
17 protein refolding GO:0042026 9.67 FKBP1B FKBP1A
18 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.67 TRDN ASPH AKAP6
19 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.67 RYR2 FKBP1B CASQ2 ASPH
20 action potential GO:0001508 9.66 KCND2 AKAP6
21 cellular response to peptide GO:1901653 9.65 PPP1R9B ANO1
22 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.65 TRDN CASQ2
23 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.63 RYR2 FKBP1B
24 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.63 TRDN RYR2 RYR1
25 regulation of membrane repolarization GO:0060306 9.62 CASQ2 AKAP6
26 response to redox state GO:0051775 9.62 RYR2 FKBP1B
27 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.62 TRDN FKBP1B FKBP1A CASQ2
28 response to caffeine GO:0031000 9.61 RYR2 RYR1
29 protein maturation by protein folding GO:0022417 9.61 FKBP1B FKBP1A
30 regulation of cell communication by electrical coupling GO:0010649 9.61 TRDN CASQ2 ASPH
31 ion transmembrane transport GO:0034220 9.61 TRDN RYR3 RYR2 RYR1 KCND2 FKBP1B
32 negative regulation of release of sequestered calcium ion into cytosol GO:0051280 9.59 FKBP1B FKBP1A
33 positive regulation of sequestering of calcium ion GO:0051284 9.58 RYR2 FKBP1B
34 'de novo' protein folding GO:0006458 9.57 FKBP1B FKBP1A
35 cellular response to caffeine GO:0071313 9.56 RYR3 RYR2 RYR1 CASQ2
36 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 9.55 RYR2 CASQ2
37 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.55 TRDN FKBP1B CASQ2 ASPH AKAP6
38 regulation of cardiac conduction GO:1903779 9.17 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ2

Molecular functions related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.41 VANGL1 TRDN RYR3 RYR2 RYR1 PRKCD
2 calcium ion binding GO:0005509 9.8 RYR3 RYR2 RYR1 PPP2R3A CASQ2 ASPH
3 ion channel activity GO:0005216 9.67 RYR3 RYR2 RYR1 KCND2
4 calcium channel activity GO:0005262 9.63 RYR3 RYR2 RYR1
5 ion channel binding GO:0044325 9.5 TRDN RYR2 PPP1R9B FKBP1B FKBP1A ASPH
6 protein kinase A regulatory subunit binding GO:0034237 9.49 RYR2 AKAP6
7 calcium channel inhibitor activity GO:0019855 9.43 FKBP1B FKBP1A
8 calcium-release channel activity GO:0015278 9.43 RYR3 RYR2 RYR1
9 FK506 binding GO:0005528 9.4 FKBP1B FKBP1A
10 calcium-induced calcium release activity GO:0048763 9.33 RYR3 RYR2 RYR1
11 ryanodine-sensitive calcium-release channel activity GO:0005219 8.92 RYR3 RYR2 RYR1 FKBP1B

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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