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KEGG Pathway Report
Basic Info
| ID | hsa05412 |
|---|---|
| Name | Arrhythmogenic right ventricular cardiomyopathy (ARVC) |
| Description | Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive myocyte loss and fibrofatty replacement, with a predilection for the right ventricle. A number of genetic studies have identified mutations in various components of the cardiac desmosome that have important roles in the pathogenesis of ARVC. Disruption of desmosomal function by defective proteins might lead to death of myocytes under mechanical stress. The myocardial injury may be accompanied by inflammation. Since regeneration of cardiac myocytes is limited, repair by fibrofatty replacement occurs. Several studies have implicated that desmosome dysfunction results in the delocalization and nuclear translocation of plakoglobin. As a result, competition between plakoglobin and beta-catenin will lead to the inhibition of Wnt/beta-catenin signaling, resulting in a shift from a myocyte fate towards an adipocyte fate of cells. The ryanodine receptor plays a crucial part in electromechanical coupling by control of release of calcium from the sarcoplasmic reticulum into the cytosol. Therefore, defects in this receptor could result in an imbalance of calcium homeostasis that might trigger cell death. |
| No. of Genes in ADHDgene | 27 |
| Source | Pathway by Database Search |
Pathway related genes in ADHDgene (count: 27)
Literature-origin genes (count: 4)
| Approved Symbol | Approved Name | Location | No. of Studies (significant/non-significant/trend)  |
|---|---|---|---|
| CTNNA2 | catenin (cadherin-associated protein), alpha 2 | 2p12-p11.1 | 2(1/1/0) |
| CACNA1C | calcium channel, voltage-dependent, L type, alpha 1C subunit | 12p13.3 | 1(0/1/0) |
| ITGA11 | integrin, alpha 11 | 15q22.3-q23 | 1(0/0/1) |
| ITGA1 | integrin, alpha 1 | 5q11.1 | 1(0/1/0) |
Genes from other sources (count: 23)
| Approved Symbol | Approved Name | Location | Source |
|---|---|---|---|
| CACNG5 | calcium channel, voltage-dependent, gamma subunit 5 | 17q24 | Mapped by PBA pathway |
| CACNB4 | calcium channel, voltage-dependent, beta 4 subunit | 2q22-q23 | Mapped by PBA pathway |
| CACNG1 | calcium channel, voltage-dependent, gamma subunit 1 | 17q24 | Mapped by PBA pathway |
| ACTN3 | actinin, alpha 3 | 11q13-q14 | Mapped by significant region |
| CACNG2 | calcium channel, voltage-dependent, gamma subunit 2 | 22q13.1 | Mapped by PBA pathway |
| CACNG4 | calcium channel, voltage-dependent, gamma subunit 4 | 17q24 | Mapped by PBA pathway |
| DES | desmin | 2q35 | Mapped by significant region |
| GJA1 | gap junction protein, alpha 1, 43kDa | 6q22-q23 | Mapped by significant region |
| CACNA1F | calcium channel, voltage-dependent, L type, alpha 1F subunit | Xp11.23 | Mapped by LD-proxy; Mapped by PBA pathway; Mapped by literature SNP |
| CTNNA3 | catenin (cadherin-associated protein), alpha 3 | 10q21 | Mapped by CNV |
| CACNB1 | calcium channel, voltage-dependent, beta 1 subunit | 17q21-q22 | Mapped by PBA pathway |
| CACNA2D1 | calcium channel, voltage-dependent, alpha 2/delta subunit 1 | 7q21-q22 | Mapped by PBA pathway |
| SGCD | sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) | 5q33-q34 | Mapped by CNV; Mapped by significant region |
| CACNB3 | calcium channel, voltage-dependent, beta 3 subunit | 12q13 | Mapped by PBA pathway |
| CACNB2 | calcium channel, voltage-dependent, beta 2 subunit | 10p12 | Mapped by PBA pathway |
| DSG2 | desmoglein 2 | 18q12.1 | Mapped by significant region |
| CACNA1D | calcium channel, voltage-dependent, L type, alpha 1D subunit | 3p14.3 | Mapped by PBA pathway |
| CACNA1S | calcium channel, voltage-dependent, L type, alpha 1S subunit | 1q32 | Mapped by PBA pathway |
| CDH2 | cadherin 2, type 1, N-cadherin (neuronal) | 18q12.1 | Mapped by significant region |
| RYR2 | ryanodine receptor 2 (cardiac) | 1q43 | Mapped by CNV; Mapped by PBA pathway |
| DSC2 | desmocollin 2 | 18q12.1 | Mapped by significant region |
| LAMA2 | laminin, alpha 2 | 6q22-q23 | Mapped by CNV; Mapped by significant region |
| ITGA2 | integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) | 5q11.2 | Mapped by LD-proxy |