ARVD2
MCID: ARR046
MIFTS: 44

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 56 73 29 6 71
Arrhythmogenic Right Ventricular Dysplasia 2 56 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 2 56 12 73
Arvd2 56 12 73
Arvc2 56 12 73
Arrhythmogenic Right Ventricular Cardiomyopathy 2; Arvc2 56
Familial Arrhythmogenic Right Ventricular Dysplasia 2 12
Dysplasia, Arrhythmogenic Right Ventricular, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant
heterogeneity.


HPO:

31
arrhythmogenic right ventricular dysplasia, familial, 2:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110071
OMIM 56 600996
OMIM Phenotypic Series 56 PS107970
MeSH 43 D019571
ICD10 32 I42.8
MedGen 41 C1832931
UMLS 71 C1832931

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

UniProtKB/Swiss-Prot : 73 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 central core disease of muscle and atrial standstill 1. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 is RYR2 (Ryanodine Receptor 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cardiac conduction. Affiliated tissues include heart, skin 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, 9 family:

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
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, 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 64)
# Related Disease Score Top Affiliating Genes
1 central core disease of muscle 30.6 RYR2 RYR1
2 atrial standstill 1 29.2 RYR2 PKP2 JUP DSP DSG2 DSC2
3 malignant hyperthermia 28.5 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ2
4 arrhythmogenic right ventricular cardiomyopathy 28.4 TMEM43 TGFB3 RYR2 RYR1 PKP2 JUP
5 catecholaminergic polymorphic ventricular tachycardia 27.0 TRDN TMEM43 RYR3 RYR2 RYR1 PKP2
6 ventricular tachycardia, catecholaminergic polymorphic, 4 10.2
7 cardiac conduction defect 10.1 RYR2 FKBP1B DSP
8 ventricular fibrillation, paroxysmal familial, 1 10.1 RYR2 DSP
9 grover's disease 10.0 JUP DSP
10 epidermolysis bullosa, lethal acantholytic 10.0 JUP DSP
11 ritter's disease 10.0 DSG2 DSC2
12 diffuse palmoplantar keratoderma 10.0 JUP DSP
13 cardiac arrhythmia 10.0 RYR2 PKP2 JUP
14 neuroleptic malignant syndrome 10.0 RYR3 RYR1
15 paraneoplastic pemphigus 9.9 DSP DSG2 DSC2
16 bullous skin disease 9.9 DSP DSG2 DSC2
17 ventricular tachycardia, catecholaminergic polymorphic, 2 9.9 RYR2 CASQ2
18 cellulitis 9.9 DSP DSG2 DSC2
19 palmoplantar keratoderma and woolly hair 9.8 JUP DSP DSC2
20 ectodermal dysplasia/skin fragility syndrome 9.8 JUP DSP DSC2
21 ventricular tachycardia, catecholaminergic polymorphic, 3 9.8 RYR2 CASQ2
22 darier-white disease 9.8 JUP DSP DSC2
23 rare cardiomyopathy 9.8 RYR2 PKP2 DSP DSG2
24 congenital fiber-type disproportion 9.7 TRDN RYR3 RYR1
25 pemphigus vulgaris, familial 9.7 JUP DSP DSG2
26 congenital structural myopathy 9.7 TRDN RYR3 RYR2 RYR1
27 naxos disease 9.7 PKP2 JUP DSP DSC2
28 timothy syndrome 9.6 RYR2 CASQ2
29 hypertrophic cardiomyopathy 9.6 TGFB3 RYR2 DSP
30 andersen cardiodysrhythmic periodic paralysis 9.5 TRDN RYR2 CASQ2
31 benign chronic pemphigus 9.5 JUP DSP DSG2 DSC2
32 pemphigus 9.5 JUP DSP DSG2 DSC2
33 long qt syndrome 2 9.5 TRDN RYR2 CASQ2
34 central core myopathy 9.5 TRDN RYR3 RYR2 RYR1 FKBP1B
35 muscular dystrophy 9.4 TRDN TMEM43 RYR2 RYR1 PKP2
36 arrhythmogenic right ventricular dysplasia, familial, 13 9.4 TGFB3 RYR2 PKP2 HMOX2 DSP
37 familial atrial fibrillation 9.4 RYR2 PKP2 DSG2 CASQ2
38 palmoplantar keratosis 9.3 PKP2 JUP DSP DSG2 DSC2
39 arrhythmogenic right ventricular dysplasia, familial, 11 9.2 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
40 heart conduction disease 9.2 TRDN RYR2 PKP2 FKBP1B CASQ2
41 leopard syndrome 9.1 TMEM43 PKP2 JUP DSP DSG2 DSC2
42 arrhythmogenic right ventricular dysplasia, familial, 12 9.1 TMEM43 RYR2 PKP2 JUP FKBP1B DSG2
43 arrhythmogenic right ventricular dysplasia, familial, 1 9.0 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
44 left bundle branch hemiblock 9.0 TMEM43 RYR2 PKP2 JUP DSP DSG2
45 arrhythmogenic right ventricular dysplasia, familial, 10 9.0 TMEM43 RYR2 PKP2 JUP DSP DSG2
46 intrinsic cardiomyopathy 9.0 TMEM43 RYR2 PKP2 JUP DSP DSG2
47 long qt syndrome 1 8.9 TRDN RYR2 PKP2 FKBP1B DSP CASQ2
48 arrhythmogenic right ventricular dysplasia, familial, 3 8.9 TGFB3 RYR2 PKP2 HMOX2 DSP DSG2
49 heart disease 8.9 TGFB3 RYR2 RYR1 PKP2 FKBP1B DSP
50 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 8.7 TMEM43 TGFB3 RYR2 PKP2 JUP DSP

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:

31
# Description HPO Frequency HPO Source Accession
1 dilatation of the ventricular cavity 31 HP:0006698
2 ventricular arrhythmia 31 HP:0004308
3 right ventricular cardiomyopathy 31 HP:0011663
4 effort-induced polymorphic ventricular tachycardia 31 HP:0004758

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 CASQ2 DSC2 DSG2 DSP FKBP1B HMOX2
2 mortality/aging MP:0010768 9.7 CASQ2 DSG2 DSP FKBP1B HMOX2 JUP
3 muscle MP:0005369 9.36 CASQ2 DSG2 DSP FKBP1B HMOX2 JUP

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:

40
Heart, Skin, 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). 61 56 6
11159936 2001
2
A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. 61 56
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). 6
21810866 2011
4
Arrhythmogenic Right Ventricular Cardiomyopathy 6
20301310 2005
5
Myocardial calcium signalling and arrhythmia pathogenesis. 56
15336976 2004
6
RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort. 61
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. 61
23978697 2013
8
Bioinformatic mapping and production of recombinant N-terminal domains of human cardiac ryanodine receptor 2. 61
20045464 2010
9
Genetic bases of arrhythmogenic right ventricular Cardiomyopathy. 61
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. 61
16239587 2005
11
Ryanodine receptor defects in muscle genetic diseases. 61
15336972 2004
12
Regulation of ryanodine receptors by FK506 binding proteins. 61
15451514 2004
13
Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia. 61
15176428 2004
14
The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations. 61
12459180 2002
15
Genetics of arrhythmogenic right ventricular cardiomyopathy. 61
12015469 2002
16
Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia. 61
11807805 2002
17
ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm. 61
9344647 1997
18
A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR2 NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)SNV Pathogenic 201214 rs190140598 1:237608788-237608788 1:237445488-237445488
2 RYR2 NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile)SNV Pathogenic 12958 rs121918601 1:237804238-237804238 1:237640938-237640938
3 RYR2 NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)SNV Pathogenic 12959 rs121918602 1:237617696-237617696 1:237454396-237454396
4 RYR2 GRCh37/hg19 1q43(chr1:237413038-237540797)copy number gain Pathogenic 625614 1:237413038-237540797
5 RYR2 NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)SNV Conflicting interpretations of pathogenicity 201381 rs373261115 1:237754226-237754226 1:237590926-237590926
6 RYR2 NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)SNV Conflicting interpretations of pathogenicity 179220 rs727504718 1:237655219-237655219 1:237491919-237491919
7 RYR2 NM_001035.3(RYR2):c.649A>G (p.Ile217Val)SNV Conflicting interpretations of pathogenicity 165072 rs200642525 1:237550653-237550653 1:237387353-237387353
8 RYR2 NM_001035.3(RYR2):c.2755G>A (p.Val919Met)SNV Conflicting interpretations of pathogenicity 178117 rs201079716 1:237675024-237675024 1:237511724-237511724
9 RYR2 NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)SNV Uncertain significance 178120 rs200450676 1:237758826-237758826 1:237595526-237595526
10 RYR2 NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met)SNV Uncertain significance 178121 rs370331492 1:237791260-237791260 1:237627960-237627960
11 RYR2 NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)SNV Uncertain significance 165128 rs571985775 1:237949299-237949299 1:237785999-237785999
12 RYR2 NM_001035.3(RYR2):c.1166G>A (p.Arg389His)SNV Uncertain significance 178114 rs200685968 1:237604779-237604779 1:237441479-237441479
13 RYR2 NM_001035.3(RYR2):c.239A>G (p.Glu80Gly)SNV Uncertain significance 201190 rs794728706 1:237494248-237494248 1:237330948-237330948
14 RYR2 NM_001035.3(RYR2):c.2306G>T (p.Arg769Leu)SNV Uncertain significance 203374 rs754901791 1:237664113-237664113 1:237500813-237500813
15 RYR2 NM_001035.3(RYR2):c.2320C>A (p.Pro774Thr)SNV Uncertain significance 238228 rs780965490 1:237664127-237664127 1:237500827-237500827
16 RYR2 NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser)SNV Uncertain significance 404193 rs1031049689 1:237837422-237837422 1:237674122-237674122
17 RYR2 NM_001035.3(RYR2):c.724G>A (p.Asp242Asn)SNV Uncertain significance 417862 rs1060499569 1:237551434-237551434 1:237388134-237388134
18 RYR2 NM_001035.3(RYR2):c.10361G>A (p.Arg3454His)SNV Uncertain significance 463539 rs1229045575 1:237880535-237880535 1:237717235-237717235
19 RYR2 NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala)SNV Uncertain significance 488158 rs1553325274 1:237951371-237951371 1:237788071-237788071
20 RYR2 NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg)SNV Uncertain significance 499175 rs775477470 1:237947553-237947553 1:237784253-237784253
21 RYR2 NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg)SNV Uncertain significance 517162 rs747584325 1:237951329-237951329 1:237788029-237788029
22 RYR2 NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)SNV Uncertain significance 532332 rs1019112544 1:237753154-237753154 1:237589854-237589854
23 RYR2 NM_001035.3(RYR2):c.1600T>C (p.Tyr534His)SNV Uncertain significance 547976 rs376007579 1:237620023-237620023 1:237456723-237456723
24 RYR2 NM_001035.3(RYR2):c.5585A>G (p.Asp1862Gly)SNV Uncertain significance 560682 rs1559117209 1:237778013-237778013 1:237614713-237614713
25 RYR2 NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln)SNV Uncertain significance 572506 rs765389300 1:237617821-237617821 1:237454521-237454521
26 RYR2 NM_001035.3(RYR2):c.14048_14049delinsAT (p.Arg4683Asn)indel Uncertain significance 577789 rs1558439258 1:237961428-237961429 1:237798128-237798129
27 RYR2 NM_001035.3(RYR2):c.505C>T (p.Arg169Ter)SNV Uncertain significance 617902 rs749930577 1:237540664-237540664 1:237377364-237377364

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

73
# 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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 TRDN RYR3 RYR2 RYR1 HMOX2 FKBP1B
2
Show member pathways
12.56 TRDN RYR3 RYR2 RYR1 FKBP1B
3
Show member pathways
12.27 RYR3 RYR2 RYR1 CASQ2
4
Show member pathways
12.26 TRDN RYR3 RYR2 RYR1 FKBP1B
5
Show member pathways
12.17 PKP2 JUP DSP DSG2 DSC2
6
Show member pathways
11.95 TRDN RYR3 RYR2 RYR1 CASQ2
7 11.85 RYR3 RYR2 RYR1
8 11.82 RYR3 RYR2 RYR1
9
Show member pathways
11.62 RYR2 PKP2 JUP DSP DSG2 DSC2
10 11.57 TRDN RYR2 CASQ2
11 11.27 RYR3 RYR2 RYR1
12 11.04 JUP DSP
13 10.77 RYR2 JUP FKBP1B DSP CASQ2
14 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 21)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.26 TRDN TGFB3 RYR3 RYR2 RYR1 PKP2
2 cell GO:0005623 10.1 TRDN RYR3 RYR2 RYR1 JUP HMOX2
3 intracellular membrane-bounded organelle GO:0043231 9.98 TGFB3 RYR3 HMOX2 FKBP1B DSG2
4 cell junction GO:0030054 9.97 PKP2 JUP DSP DSG2 DSC2
5 Z disc GO:0030018 9.91 RYR3 RYR2 RYR1 JUP FKBP1B CASQ2
6 cell-cell junction GO:0005911 9.88 PKP2 JUP DSP DSG2 DSC2
7 intercalated disc GO:0014704 9.8 PKP2 JUP DSP DSG2 DSC2
8 intermediate filament GO:0005882 9.77 PKP2 JUP DSP
9 cytoplasmic vesicle membrane GO:0030659 9.77 RYR3 RYR2 RYR1
10 cornified envelope GO:0001533 9.77 PKP2 JUP DSP DSG2 DSC2
11 sarcolemma GO:0042383 9.74 RYR3 RYR2 RYR1
12 cell-cell adherens junction GO:0005913 9.73 PKP2 JUP DSC2
13 smooth endoplasmic reticulum GO:0005790 9.69 RYR3 RYR2 RYR1
14 desmosome GO:0030057 9.65 PKP2 JUP DSP DSG2 DSC2
15 junctional membrane complex GO:0030314 9.63 TRDN RYR1 CASQ2
16 junctional sarcoplasmic reticulum membrane GO:0014701 9.62 TRDN RYR2 RYR1 CASQ2
17 fascia adherens GO:0005916 9.55 JUP DSP
18 calcium channel complex GO:0034704 9.55 RYR3 RYR2 RYR1 FKBP1B CASQ2
19 sarcoplasmic reticulum lumen GO:0033018 9.54 TRDN CASQ2
20 sarcoplasmic reticulum GO:0016529 9.43 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ2
21 sarcoplasmic reticulum membrane GO:0033017 9.1 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ2

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.91 PKP2 JUP DSP DSG2 DSC2
2 response to hypoxia GO:0001666 9.9 TGFB3 RYR2 RYR1 HMOX2
3 ion transmembrane transport GO:0034220 9.88 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ2
4 cellular calcium ion homeostasis GO:0006874 9.85 TRDN RYR3 RYR2 RYR1
5 cell-cell adhesion GO:0098609 9.85 PKP2 JUP DSP DSG2 DSC2
6 calcium ion transport GO:0006816 9.83 RYR3 RYR2 RYR1
7 calcium ion transmembrane transport GO:0070588 9.82 RYR3 RYR2 RYR1
8 skin development GO:0043588 9.78 RYR1 JUP DSP
9 release of sequestered calcium ion into cytosol GO:0051209 9.78 RYR3 RYR2 RYR1 FKBP1B
10 regulation of cytosolic calcium ion concentration GO:0051480 9.77 RYR2 RYR1 FKBP1B
11 cornification GO:0070268 9.77 PKP2 JUP DSP DSG2 DSC2
12 regulation of heart rate GO:0002027 9.75 RYR2 FKBP1B CASQ2
13 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.73 RYR2 FKBP1B CASQ2
14 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.71 TRDN FKBP1B CASQ2
15 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.7 RYR2 PKP2 FKBP1B
16 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.67 TRDN FKBP1B CASQ2
17 calcium-mediated signaling using intracellular calcium source GO:0035584 9.65 RYR2 FKBP1B
18 regulation of heart rate by cardiac conduction GO:0086091 9.65 PKP2 JUP DSP DSG2 DSC2
19 ventricular cardiac muscle cell action potential GO:0086005 9.64 RYR2 PKP2
20 detection of calcium ion GO:0005513 9.64 RYR2 CASQ2
21 response to redox state GO:0051775 9.63 RYR2 FKBP1B
22 response to caffeine GO:0031000 9.63 RYR2 RYR1
23 regulation of cardiac conduction GO:1903779 9.63 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ2
24 regulation of cell communication by electrical coupling GO:0010649 9.62 TRDN CASQ2
25 desmosome organization GO:0002934 9.62 DSP DSG2
26 cellular response to caffeine GO:0071313 9.62 RYR3 RYR2 RYR1 CASQ2
27 desmosome assembly GO:0002159 9.61 PKP2 JUP
28 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.61 TRDN RYR2 RYR1
29 positive regulation of sequestering of calcium ion GO:0051284 9.58 RYR2 FKBP1B
30 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 9.57 RYR2 CASQ2
31 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.35 PKP2 JUP DSP DSG2 DSC2
32 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.1 RYR2 PKP2 JUP DSP DSG2 DSC2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.29 TRDN TMEM43 TGFB3 RYR3 RYR2 RYR1
2 calcium ion binding GO:0005509 9.85 RYR3 RYR2 RYR1 DSG2 DSC2 CASQ2
3 calmodulin binding GO:0005516 9.67 RYR3 RYR2 RYR1
4 calcium channel activity GO:0005262 9.63 RYR3 RYR2 RYR1
5 ion channel binding GO:0044325 9.62 TRDN RYR2 PKP2 FKBP1B
6 cell adhesion molecule binding GO:0050839 9.58 JUP DSP DSG2
7 alpha-catenin binding GO:0045294 9.43 PKP2 JUP
8 calcium-release channel activity GO:0015278 9.43 RYR3 RYR2 RYR1
9 calcium-induced calcium release activity GO:0048763 9.33 RYR3 RYR2 RYR1
10 ryanodine-sensitive calcium-release channel activity GO:0005219 9.26 RYR3 RYR2 RYR1 FKBP1B
11 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 PKP2 JUP DSP DSG2 DSC2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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