ARVD2
MCID: ARR046
MIFTS: 46

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 (ARVD2)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 57 74 29 6 72
Arrhythmogenic Right Ventricular Dysplasia 2 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 2 57 12 74
Arvd2 57 12 74
Arvc2 57 12 74
Arrhythmogenic Right Ventricular Cardiomyopathy 2; Arvc2 57
Familial Arrhythmogenic Right Ventricular Dysplasia 2 12
Dysplasia, Arrhythmogenic Right Ventricular, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
heterogeneity.


HPO:

32
arrhythmogenic right ventricular dysplasia, familial, 2:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110071
MeSH 44 D019571
ICD10 33 I42.8
MedGen 42 C1832931
UMLS 72 C1832931

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

UniProtKB/Swiss-Prot : 74 Arrhythmogenic right ventricular dysplasia, familial, 2: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 2, also known as arrhythmogenic right ventricular dysplasia 2, is related to atrial standstill 1 and arrhythmogenic right ventricular cardiomyopathy. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 is RYR2 (Ryanodine Receptor 2), and among its related pathways/superpathways are Cardiac conduction and Ion channel transport. Affiliated tissues include heart and testes, and related phenotypes are dilatation of the ventricular cavity and ventricular arrhythmia

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43.

More information from OMIM: 600996 PS107970

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Diseases in the Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 family:

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 29.7 SCN5A PKP2 JUP DSP
2 arrhythmogenic right ventricular cardiomyopathy 28.2 TGFB3 SCN5A RYR2 RYR1 PKP2 KCNH2
3 catecholaminergic polymorphic ventricular tachycardia 27.1 SCN5A RYR2 RYR1 KCNJ2 KCNH2 FKBP1B
4 central core myopathy 10.4 RYR3 RYR2 RYR1
5 grover's disease 10.3 JUP DSP
6 epidermolysis bullosa, lethal acantholytic 10.3 JUP DSP
7 palmoplantar keratoderma and woolly hair 10.2 JUP DSP
8 arrhythmogenic right ventricular dysplasia, familial, 4 10.2 TGFB3 PKP2 HMOX2
9 familial periodic paralysis 10.2 RYR1 KCNJ2
10 central core disease of muscle 10.2
11 ventricular tachycardia, catecholaminergic polymorphic, 4 10.2
12 malignant hyperthermia 10.2
13 naxos disease 10.1 PKP2 JUP DSP
14 ectodermal dysplasia/skin fragility syndrome 10.1 JUP DSP
15 arrhythmogenic right ventricular dysplasia, familial, 1 10.0 TGFB3 RYR2 JUP DSP
16 third-degree atrioventricular block 10.0 SCN5A KCNE2
17 cardiomyopathy, dilated, with woolly hair and keratoderma 10.0 TGFB3 PKP2 JUP DSP
18 left bundle branch hemiblock 9.9 SCN5A PKP2 JUP
19 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.8 TGFB3 RYR2 PKP2 JUP DSP
20 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.8 TGFB3 RYR2 PKP2 JUP DSP
21 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.8 TGFB3 RYR2 PKP2 JUP DSP
22 familial short qt syndrome 9.8 KCNQ1 KCNJ2 KCNH2
23 arrhythmogenic right ventricular dysplasia, familial, 9 9.8 TGFB3 RYR2 PKP2 JUP DSP
24 arrhythmogenic right ventricular dysplasia, familial, 8 9.8 TGFB3 RYR2 PKP2 JUP DSP
25 brugada syndrome 1 9.8 SCN5A KCNH2
26 timothy syndrome 9.7 KCNQ1 KCNH2 KCNE1
27 long qt syndrome 9 9.6 SCN5A KCNJ2
28 long qt syndrome 13 9.5 SCN5A KCNQ1 KCNH2
29 short qt syndrome 9.3 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
30 sudden infant death syndrome 9.3 SCN5A RYR2 KCNQ1 KCNH2
31 syncope 9.3 SCN5A KCNQ1 KCNJ2 KCNH2
32 long qt syndrome 12 9.0 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
33 jervell and lange-nielsen syndrome 1 9.0 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
34 atrioventricular block 9.0 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
35 cardiac conduction defect 8.9 SCN5A RYR2 RYR1 KCNQ1 KCNH2 DSP
36 long qt syndrome 3 8.8 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 ANK2
37 familial atrial fibrillation 8.7 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
38 heart conduction disease 8.6 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE1
39 cardiac arrest 8.6 SCN5A RYR2 KCNQ1 KCNH2 DSP CASQ2
40 dilated cardiomyopathy 8.6 SCN5A RYR2 PKP2 KCNQ1 KCNH2 JUP
41 ventricular fibrillation, paroxysmal familial, 1 8.5 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
42 long qt syndrome 2 8.4 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
43 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 8.4 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 DSP
44 andersen cardiodysrhythmic periodic paralysis 8.4 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
45 atrial fibrillation 8.3 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
46 brugada syndrome 8.3 SCN5A PKP2 KCNQ1 KCNH2 KCNE2 KCNE1
47 long qt syndrome 5 8.1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
48 long qt syndrome 6 8.1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
49 cardiac arrhythmia 8.1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
50 long qt syndrome 8.1 SCN5A RYR2 PKP2 KCNQ1 KCNJ2 KCNH2

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

32
# Description HPO Frequency HPO Source Accession
1 dilatation of the ventricular cavity 32 HP:0006698
2 ventricular arrhythmia 32 HP:0004308
3 right ventricular cardiomyopathy 32 HP:0011663
4 effort-induced polymorphic ventricular tachycardia 32 HP:0004758

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
arrhythmogenic right ventricular cardiomyopathy. cardiac electrical instability. ventricular arrhythmias. ventricular aneurysms. effort-induced polymorphic ventricular tachycardias.

Lab:
fibro-fatty replacement of right ventricular myocardium.

Misc:
juvenile sudden death.

Clinical features from OMIM:

600996

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 CASQ2 DSP FKBP1A FKBP1B HMOX2 JUP
2 behavior/neurological MP:0005386 10.2 FKBP1A HMOX2 JUP KCNJ2 KCNQ1 NID1
3 growth/size/body region MP:0005378 10.1 CASQ2 DSP FKBP1A JUP KCNE2 KCNH2
4 homeostasis/metabolism MP:0005376 10.07 CASQ2 FKBP1A FKBP1B HMOX2 JUP KCNE2
5 embryo MP:0005380 9.97 CASQ2 DSP FKBP1A JUP KCNH2 RYR2
6 mortality/aging MP:0010768 9.97 CASQ2 DSP FKBP1A FKBP1B HMOX2 JUP
7 digestive/alimentary MP:0005381 9.95 DSP HMOX2 KCNE2 KCNJ2 KCNQ1 RYR1
8 muscle MP:0005369 9.83 CASQ2 DSP FKBP1A FKBP1B HMOX2 JUP
9 nervous system MP:0003631 9.32 DSP FKBP1A HMOX2 JUP KCNQ1 NID1

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 29 RYR2

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

41
Heart, Testes

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

(show all 18)
# Title Authors PMID Year
1
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). 38 8 71
11159936 2001
2
A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. 38 8
8589694 1995
3
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 71
21810866 2011
4
Arrhythmogenic Right Ventricular Cardiomyopathy 71
20301310 2005
5
Myocardial calcium signalling and arrhythmia pathogenesis. 8
15336976 2004
6
RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort. 38
24978818 2014
7
Type 2 ryanodine receptor domain A contains a unique and dynamic α-helix that transitions to a β-strand in a mutant linked with a heritable cardiomyopathy. 38
23978697 2013
8
Bioinformatic mapping and production of recombinant N-terminal domains of human cardiac ryanodine receptor 2. 38
20045464 2010
9
Genetic bases of arrhythmogenic right ventricular Cardiomyopathy. 38
21977247 2006
10
Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death. 38
16239587 2005
11
Ryanodine receptor defects in muscle genetic diseases. 38
15336972 2004
12
Regulation of ryanodine receptors by FK506 binding proteins. 38
15451514 2004
13
Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia. 38
15176428 2004
14
The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations. 38
12459180 2002
15
Genetics of arrhythmogenic right ventricular cardiomyopathy. 38
12015469 2002
16
Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia. 38
11807805 2002
17
ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm. 38
9344647 1997
18
A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. 38
8824801 1996

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

6 (show all 27)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RYR2 NM_001035.3(RYR2): c.7157A> T (p.Asn2386Ile) single nucleotide variant Pathogenic rs121918601 1:237804238-237804238 1:237640938-237640938
2 RYR2 NM_001035.3(RYR2): c.1298T> C (p.Leu433Pro) single nucleotide variant Pathogenic rs121918602 1:237617696-237617696 1:237454396-237454396
3 RYR2 GRCh37/hg19 1q43(chr1: 237413038-237540797) copy number gain Pathogenic 1:237413038-237540797 :0-0
4 RYR2 NM_001035.3(RYR2): c.1258C> T (p.Arg420Trp) single nucleotide variant Pathogenic rs190140598 1:237608788-237608788 1:237445488-237445488
5 RYR2 NM_001035.3(RYR2): c.4094C> T (p.Ala1365Val) single nucleotide variant Conflicting interpretations of pathogenicity rs373261115 1:237754226-237754226 1:237590926-237590926
6 RYR2 NM_001035.3(RYR2): c.649A> G (p.Ile217Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200642525 1:237550653-237550653 1:237387353-237387353
7 RYR2 NM_001035.3(RYR2): c.2755G> A (p.Val919Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201079716 1:237675024-237675024 1:237511724-237511724
8 RYR2 NM_001035.3(RYR2): c.1822C> T (p.His608Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs727504718 1:237655219-237655219 1:237491919-237491919
9 RYR2 NM_001035.3(RYR2): c.239A> G (p.Glu80Gly) single nucleotide variant Uncertain significance rs794728706 1:237494248-237494248 1:237330948-237330948
10 RYR2 NM_001035.3(RYR2): c.2306G> T (p.Arg769Leu) single nucleotide variant Uncertain significance rs754901791 1:237664113-237664113 1:237500813-237500813
11 RYR2 NM_001035.3(RYR2): c.2320C> A (p.Pro774Thr) single nucleotide variant Uncertain significance rs780965490 1:237664127-237664127 1:237500827-237500827
12 RYR2 NM_001035.3(RYR2): c.14048_14049delinsAT (p.Arg4683Asn) indel Uncertain significance 1:237961428-237961429 1:237798128-237798129
13 RYR2 NM_001035.3(RYR2): c.505C> T (p.Arg169Ter) single nucleotide variant Uncertain significance 1:237540664-237540664 1:237377364-237377364
14 RYR2 NM_001035.3(RYR2): c.724G> A (p.Asp242Asn) single nucleotide variant Uncertain significance rs1060499569 1:237551434-237551434 1:237388134-237388134
15 RYR2 NM_001035.3(RYR2): c.13412G> C (p.Gly4471Ala) single nucleotide variant Uncertain significance rs1553325274 1:237951371-237951371 1:237788071-237788071
16 RYR2 NM_001035.3(RYR2): c.12541G> A (p.Gly4181Arg) single nucleotide variant Uncertain significance rs775477470 1:237947553-237947553 1:237784253-237784253
17 RYR2 NM_001035.3(RYR2): c.13370A> G (p.Lys4457Arg) single nucleotide variant Uncertain significance rs747584325 1:237951329-237951329 1:237788029-237788029
18 RYR2 NM_001035.3(RYR2): c.3660T> A (p.Asp1220Glu) single nucleotide variant Uncertain significance rs1019112544 1:237753154-237753154 1:237589854-237589854
19 RYR2 NM_001035.3(RYR2): c.1600T> C (p.Tyr534His) single nucleotide variant Uncertain significance rs376007579 1:237620023-237620023 1:237456723-237456723
20 RYR2 NM_001035.3(RYR2): c.5585A> G (p.Asp1862Gly) single nucleotide variant Uncertain significance 1:237778013-237778013 1:237614713-237614713
21 RYR2 NM_001035.3(RYR2): c.4465T> C (p.Cys1489Arg) single nucleotide variant Uncertain significance rs200450676 1:237758826-237758826 1:237595526-237595526
22 RYR2 NM_001035.3(RYR2): c.6320C> T (p.Thr2107Met) single nucleotide variant Uncertain significance rs370331492 1:237791260-237791260 1:237627960-237627960
23 RYR2 NM_001035.3(RYR2): c.13291G> A (p.Glu4431Lys) single nucleotide variant Uncertain significance rs571985775 1:237949299-237949299 1:237785999-237785999
24 RYR2 NM_001035.3(RYR2): c.1166G> A (p.Arg389His) single nucleotide variant Uncertain significance rs200685968 1:237604779-237604779 1:237441479-237441479
25 RYR2 NM_001035.3(RYR2): c.10361G> A (p.Arg3454His) single nucleotide variant Uncertain significance rs1229045575 1:237880535-237880535 1:237717235-237717235
26 RYR2 NM_001035.3(RYR2): c.8617C> T (p.Pro2873Ser) single nucleotide variant Uncertain significance rs1031049689 1:237837422-237837422 1:237674122-237674122
27 RYR2 NM_001035.3(RYR2): c.1423A> C (p.Lys475Gln) single nucleotide variant Uncertain significance 1:237617821-237617821 1:237454521-237454521

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

74
# Symbol AA change Variation ID SNP ID
1 RYR2 p.Leu433Pro VAR_011395 rs121918602
2 RYR2 p.Asn2386Ile VAR_011398 rs121918601
3 RYR2 p.Arg176Gln VAR_044087 rs794728708
4 RYR2 p.Thr2504Met VAR_044096 rs769219555

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.38 SCN5A RYR3 RYR2 RYR1 KCNQ1 KCNJ2
2
Show member pathways
12.31 RYR3 RYR2 RYR1 FKBP1B
3
Show member pathways
12.29 RYR3 RYR2 RYR1 FKBP1A CASQ2
4 12.12 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
5
Show member pathways
11.98 RYR2 PKP2 JUP DSP
6
Show member pathways
11.98 RYR3 KCNQ1 KCNJ2 KCNE2
7 11.94 SCN5A RYR2 KCNQ1 KCNH2
8 11.84 RYR3 RYR2 RYR1
9
Show member pathways
11.43 SCN5A KCNQ1 KCNE2 KCNE1
10 11.34 RYR3 RYR2 RYR1
11 11.15 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
12 10.78 KCNQ1 KCNJ2 KCNE1
13 10.45 RYR3 RYR2 RYR1

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.91 KCNQ1 KCNE2 KCNE1 ANK2
2 cytoplasmic vesicle membrane GO:0030659 9.85 RYR3 RYR2 RYR1 KCNQ1
3 sarcolemma GO:0042383 9.85 SCN5A RYR3 RYR2 RYR1 ANK2
4 voltage-gated potassium channel complex GO:0008076 9.8 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
5 cell GO:0005623 9.77 RYR3 RYR2 RYR1
6 T-tubule GO:0030315 9.77 TGFB3 SCN5A RYR1 KCNJ2 ANK2
7 cornified envelope GO:0001533 9.74 PKP2 JUP DSP
8 smooth endoplasmic reticulum GO:0005790 9.73 RYR3 RYR2 RYR1 KCNJ2
9 sarcoplasmic reticulum GO:0016529 9.73 RYR3 RYR2 RYR1 FKBP1B FKBP1A CASQ2
10 calcium channel complex GO:0034704 9.72 RYR3 RYR2 RYR1 FKBP1B CASQ2
11 desmosome GO:0030057 9.69 PKP2 JUP DSP
12 junctional sarcoplasmic reticulum membrane GO:0014701 9.67 RYR2 RYR1 CASQ2
13 intercalated disc GO:0014704 9.63 SCN5A PKP2 KCNJ2 JUP DSP ANK2
14 fascia adherens GO:0005916 9.58 JUP DSP
15 junctional membrane complex GO:0030314 9.56 RYR1 CASQ2
16 terminal cisterna GO:0014802 9.54 RYR1 FKBP1A
17 ryanodine receptor complex GO:1990425 9.52 RYR1 FKBP1A
18 sarcoplasmic reticulum membrane GO:0033017 9.43 RYR3 RYR2 RYR1 FKBP1B FKBP1A CASQ2
19 Z disc GO:0030018 9.32 SCN5A RYR3 RYR2 RYR1 KCNE1 JUP
20 membrane GO:0016020 10.45 SCN5A RYR3 RYR2 RYR1 KCNQ1 KCNJ2
21 integral component of membrane GO:0016021 10.38 SCN5A RYR3 RYR2 RYR1 PKP2 KCNQ1
22 plasma membrane GO:0005886 10.35 TGFB3 SCN5A RYR3 RYR2 RYR1 PKP2
23 cell surface GO:0009986 10 TGFB3 SCN5A KCNH2 KCNE2 KCNE1

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 according to GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 9.97 RYR3 RYR2 RYR1 FKBP1A
2 cellular calcium ion homeostasis GO:0006874 9.95 RYR3 RYR2 RYR1 ANK2
3 cardiac muscle contraction GO:0060048 9.93 SCN5A RYR2 KCNQ1 KCNH2 CASQ2
4 protein localization to plasma membrane GO:0072659 9.92 PKP2 JUP ANK2
5 cornification GO:0070268 9.91 PKP2 JUP DSP
6 release of sequestered calcium ion into cytosol GO:0051209 9.91 RYR3 RYR2 RYR1 FKBP1B
7 cellular response to calcium ion GO:0071277 9.89 SCN5A RYR3 RYR1
8 protein homotetramerization GO:0051289 9.89 RYR3 RYR1 KCNJ2
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.89 RYR2 FKBP1B CASQ2 ANK2
10 cellular response to drug GO:0035690 9.88 KCNQ1 KCNH2 KCNE2
11 regulation of cardiac conduction GO:1903779 9.88 RYR3 RYR2 RYR1 FKBP1B CASQ2
12 potassium ion export across plasma membrane GO:0097623 9.87 KCNQ1 KCNH2 KCNE2 KCNE1
13 skin development GO:0043588 9.86 RYR1 JUP DSP
14 regulation of cytosolic calcium ion concentration GO:0051480 9.86 RYR2 RYR1 FKBP1B
15 positive regulation of potassium ion transmembrane transport GO:1901381 9.86 KCNQ1 KCNJ2 KCNH2 KCNE1
16 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.83 KCNQ1 KCNH2 KCNE2 KCNE1
17 regulation of potassium ion transmembrane transport GO:1901379 9.82 KCNH2 KCNE2 KCNE1
18 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.82 RYR2 PKP2 FKBP1B
19 regulation of cardiac muscle cell contraction GO:0086004 9.81 SCN5A KCNJ2 ANK2
20 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.81 FKBP1B FKBP1A CASQ2
21 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.81 RYR2 PKP2 JUP DSP
22 atrial cardiac muscle cell action potential GO:0086014 9.8 SCN5A KCNQ1 ANK2
23 membrane repolarization GO:0086009 9.8 KCNQ1 KCNH2 KCNE2 KCNE1
24 regulation of heart rate GO:0002027 9.8 SCN5A RYR2 FKBP1B CASQ2 ANK2
25 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.77 PKP2 JUP DSP
26 cardiac muscle cell action potential involved in contraction GO:0086002 9.77 SCN5A PKP2 KCNJ2 KCNE2 KCNE1
27 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.76 KCNQ1 KCNJ2 KCNH2 KCNE1
28 protein refolding GO:0042026 9.74 FKBP1B FKBP1A
29 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.74 FKBP1B CASQ2
30 positive regulation of heart rate GO:0010460 9.74 RYR2 KCNQ1
31 calcium-mediated signaling using intracellular calcium source GO:0035584 9.74 RYR2 FKBP1B
32 regulation of cardiac muscle contraction GO:0055117 9.73 RYR2 ANK2
33 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.73 FKBP1B FKBP1A
34 positive regulation of sodium ion transport GO:0010765 9.73 SCN5A PKP2
35 membrane depolarization during action potential GO:0086010 9.73 SCN5A KCNH2
36 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.73 KCNE2 KCNE1
37 cellular response to caffeine GO:0071313 9.73 RYR3 RYR2 RYR1 CASQ2
38 detection of calcium ion GO:0005513 9.72 RYR2 CASQ2
39 cellular response to epinephrine stimulus GO:0071872 9.72 RYR2 KCNQ1
40 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.72 SCN5A KCNJ2
41 response to redox state GO:0051775 9.72 RYR2 FKBP1B
42 regulation of membrane repolarization GO:0060306 9.72 KCNQ1 KCNJ2 KCNH2 KCNE2 CASQ2
43 response to caffeine GO:0031000 9.71 RYR2 RYR1
44 protein maturation by protein folding GO:0022417 9.71 FKBP1B FKBP1A
45 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.71 RYR2 ANK2
46 regulation of delayed rectifier potassium channel activity GO:1902259 9.7 KCNE2 KCNE1
47 SA node cell action potential GO:0086015 9.7 SCN5A ANK2
48 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.7 SCN5A KCNQ1
49 sarcoplasmic reticulum calcium ion transport GO:0070296 9.69 RYR2 ANK2
50 membrane depolarization during SA node cell action potential GO:0086046 9.69 SCN5A ANK2

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.91 SCN5A RYR3 RYR2 RYR1 KCNQ1
2 ion channel activity GO:0005216 9.85 SCN5A RYR2 RYR1 KCNH2
3 potassium channel activity GO:0005267 9.83 KCNQ1 KCNH2 KCNE2 KCNE1
4 voltage-gated ion channel activity GO:0005244 9.83 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2
5 voltage-gated potassium channel activity GO:0005249 9.8 KCNQ1 KCNH2 KCNE2 KCNE1
6 calcium channel activity GO:0005262 9.78 RYR3 RYR2 RYR1
7 scaffold protein binding GO:0097110 9.76 SCN5A KCNQ1 KCNH2 DSP
8 inward rectifier potassium channel activity GO:0005242 9.71 KCNJ2 KCNH2 KCNE2
9 delayed rectifier potassium channel activity GO:0005251 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
10 calcium-release channel activity GO:0015278 9.65 RYR3 RYR2 RYR1
11 protein kinase A regulatory subunit binding GO:0034237 9.61 RYR2 KCNQ1
12 protein kinase A catalytic subunit binding GO:0034236 9.6 RYR2 KCNQ1
13 type I transforming growth factor beta receptor binding GO:0034713 9.59 TGFB3 FKBP1A
14 calcium channel inhibitor activity GO:0019855 9.58 FKBP1B FKBP1A
15 FK506 binding GO:0005528 9.57 FKBP1B FKBP1A
16 alpha-catenin binding GO:0045294 9.56 PKP2 JUP
17 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.56 KCNQ1 KCNH2 KCNE2 KCNE1
18 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.54 PKP2 JUP DSP
19 calcium-induced calcium release activity GO:0048763 9.5 RYR3 RYR2 RYR1
20 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.46 KCNQ1 KCNJ2 KCNH2 KCNE1
21 ion channel binding GO:0044325 9.28 SCN5A RYR2 PKP2 KCNQ1 KCNE2 KCNE1
22 ryanodine-sensitive calcium-release channel activity GO:0005219 9.26 RYR3 RYR2 RYR1 FKBP1B
23 protein binding GO:0005515 10.48 TGFB3 SCN5A RYR2 RYR1 PKP2 KCNQ1
24 calcium ion binding GO:0005509 10.02 RYR3 RYR2 RYR1 NID1 CASQ2

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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