Arrhythmogenic right ventricular cardiomyopathy Gene Set

Dataset WikiPathways Pathways 2024
Category structural or functional annotations
Type pathway
Description An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle. (Human Disease Ontology, DOID_0050431)
External Link https://www.wikipathways.org/pathways/WP2118.html
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Genes

74 proteins participating in the Arrhythmogenic right ventricular cardiomyopathy pathway from the WikiPathways Pathways 2024 dataset.

Symbol Name
ACTB actin, beta
ACTG1 actin gamma 1
ACTN1 actinin, alpha 1
ACTN2 actinin, alpha 2
ACTN3 actinin, alpha 3 (gene/pseudogene)
ACTN4 actinin, alpha 4
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNA2D3 calcium channel, voltage-dependent, alpha 2/delta subunit 3
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CACNB1 calcium channel, voltage-dependent, beta 1 subunit
CACNB2 calcium channel, voltage-dependent, beta 2 subunit
CACNB3 calcium channel, voltage-dependent, beta 3 subunit
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CACNG1 calcium channel, voltage-dependent, gamma subunit 1
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CACNG3 calcium channel, voltage-dependent, gamma subunit 3
CACNG4 calcium channel, voltage-dependent, gamma subunit 4
CACNG5 calcium channel, voltage-dependent, gamma subunit 5
CACNG6 calcium channel, voltage-dependent, gamma subunit 6
CACNG7 calcium channel, voltage-dependent, gamma subunit 7
CACNG8 calcium channel, voltage-dependent, gamma subunit 8
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa
CTNNA2 catenin (cadherin-associated protein), alpha 2
CTNNA3 catenin (cadherin-associated protein), alpha 3
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DES desmin
DMD dystrophin
DSC2 desmocollin 2
DSG2 desmoglein 2
DSP desmoplakin
EMD emerin
GJA1 gap junction protein, alpha 1, 43kDa
ITGA1 integrin, alpha 1
ITGA10 integrin, alpha 10
ITGA11 integrin, alpha 11
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
ITGA6 integrin, alpha 6
ITGA7 integrin, alpha 7
ITGA8 integrin, alpha 8
ITGA9 integrin, alpha 9
ITGAV integrin, alpha V
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB4 integrin, beta 4
ITGB5 integrin, beta 5
ITGB6 integrin, beta 6
ITGB7 integrin, beta 7
ITGB8 integrin, beta 8
JUP junction plakoglobin
LAMA2 laminin, alpha 2
LEF1 lymphoid enhancer-binding factor 1
LMNA lamin A/C
PKP2 plakophilin 2
RYR2 ryanodine receptor 2 (cardiac)
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)