Arrhythmogenic right ventricular cardiomyopathy (Homo sapiens)

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ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none Sarcoplasmic reticulum (SR)JUPPKP2JUPJUPDSPATP2A2CalciumDSPDSPSLC8A1SGCBSGCDCTNNB1DSC2DSG2PKP2PKP2DSG2CalciumDSG2CDH2JUPDSC2RYR2JUPLMNASodiumDSG2SGCGPKP2CalciumDAG1ECM-receptor interactionCardiac muscle contractionDSC2PKP2CalciumDAG1EMDCDH2PKP2JUPJUPDSC2Wnt signaling pathwayDESLAMA2Gap junctionSGCAJUPCTNNA3CTNNA1CTNNA2hsa:1495 hsa:1496 hsa:29119ACTN2ACTN1ACTN4ACTN3hsa:81 hsa:87 hsa:88 hsa:89CACNB2CACNA1CCACNG6CACNG8CACNG4CACNB4CACNB1CACNG7CACNA2D1CACNA1DCACNG3CACNG5CACNG1CACNA1FCACNA2D3CACNA1SCACNA2D4CACNG2CACNA2D2CACNB3hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589LEF1TCF7L1TCF7L2TCF7hsa:51176 hsa:6932 hsa:6934 hsa:83439ITGA9ITGA6ITGA3ITGA2ITGA1ITGAVITGA7ITGA2BITGA11ITGA8ITGA5ITGA4ITGA10hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516CTNNA3CTNNA1CTNNA2hsa:1495 hsa:1496 hsa:29119ACTBACTG1hsa:60 hsa:71ACTG1ACTBhsa:60 hsa:71ITGB6ITGB8ITGB7ITGB5ITGB3ITGB4ITGB1hsa:3688 hsa:3690 hsa:3691 hsa:3693 hsa:3694 hsa:3695 hsa:3696CalciumCalciumCalciumCalciumSodiumCardiac myocyteCardiac myocyteSarcolemmaAdherensjunctionDesmomeCardiomyocytedetatchmentGap junctionGJA1GJA1GJA1GJA1Competition betweenplakoglobin and beta-cateninInhibition of Wnt/beta-cateninsignalingNucleusExtracellular Matrix (ECM)Hyperactivation orhypersensitivity to calciumImbalance of calciumhomeostasisDistribution of normalexcitation-contractioncouplingNuclear localizationof plakoglobinApoptosis and/ornecrosisInflammationReplacement ofRV (later LV) myocardiumby fibrofatty tissueSymptomaticarrhythmiasRV (and LV) failureEnvironmental factors,autonomic nervous systemDSPDSPDSPIntermediate filamentDMDDESZ DiskZ DiskM DiskAdipo-andfibrogenesisDystroglycancomplexSarcoglycan complexName: Arrhythmogenic right ventricular cardiomyopathyLast Modified: 10/16/2013Organism: Homo sapiens


Description

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease that may result in arrhythmia, heart failure, and sudden death. Hallmark pathologies of ARVC include myocyte loss and fibrofatty replacement. Proteins on this pathway have targeted assays available via the [CPTAC Assay Portal](https://assays.cancer.gov/available_assays?wp_id=WP2118)

Comments

KeggConverter 
Name truncated from: Arrhythmogenic right ventricular cardiomyopathy (ARVC)

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Quality Tags

Image:Unconnected.pngFix interactions
Image:Curated.pngApproved version

Ontology Terms

 

Bibliography

  1. ''''; https://www.genome.jp/dbget-bin/www_bget?map05412,

History

View all...
CompareRevisionActionTimeUserComment
137719
Approved
view11:54, 7 March 2025EgonwModified description
136425view03:18, 2 February 2025EweitzOntology Term : 'cardiac muscle cell' added !
119252view19:34, 22 June 2021Finterlyadded KEGG biopax information
117653view11:46, 22 May 2021EweitzModified title
106506view22:28, 4 September 2019Khanspersfixed unconnected interactions
106505view22:22, 4 September 2019KhanspersAdded reference
106504view22:21, 4 September 2019KhanspersModified description
106303view17:44, 20 August 2019KhanspersModified description
105534view06:03, 9 August 2019KhanspersModified description
104978view19:06, 27 June 2019KhanspersModified description
97625view08:55, 31 May 2018AMTanOntology Term : 'arrhythmogenic right ventricular cardiomyopathy' added !
97543view14:38, 24 May 2018Fehrhartupdated identifier
71265view21:50, 16 October 2013MaintBotAutomated update of data sources
69894view19:18, 11 July 2013AlexanderPicoModified title
67061view10:01, 26 June 2013Christine ChichesterOntology Term : 'arrhythmogenic right ventricular cardiomyopathy pathway' added !
63167view20:24, 8 May 2013MaintBotUpdating GPML version
57667view20:07, 31 January 2013KhanspersModified categories
47057view20:05, 14 March 2012NsalomonisModified description
47056view20:03, 14 March 2012NsalomonisSpecify description
47055view20:01, 14 March 2012NsalomonisCleaned up automated translation
47054view19:50, 14 March 2012NsalomonisSpecify description
47053view19:49, 14 March 2012NsalomonisPeriodical save, work in progress
47050view19:39, 14 March 2012NsalomonisPeriodical save, work in progress
47049view19:29, 14 March 2012NsalomonisPeriodical save, work in progress
47046view19:18, 14 March 2012NsalomonisPeriodical save, work in progress
47044view19:08, 14 March 2012NsalomonisPeriodical save, work in progress
47042view18:48, 14 March 2012NsalomonisNew pathway

External references

DataNodes

View all...
Name  â†“Type  â†“Database reference  â†“Comment  â†“
ACTBGeneProduct60 (Entrez Gene) Original kegg element: gene;65;hsa:60 hsa:71
ACTG1GeneProduct71 (Entrez Gene) Original kegg element: gene;65;hsa:60 hsa:71
ACTN1GeneProduct87 (Entrez Gene) Original kegg element: gene;59;hsa:81 hsa:87 hsa:88 hsa:89
ACTN2GeneProduct88 (Entrez Gene) Original kegg element: gene;59;hsa:81 hsa:87 hsa:88 hsa:89
ACTN3GeneProduct89 (Entrez Gene) Original kegg element: gene;59;hsa:81 hsa:87 hsa:88 hsa:89
ACTN4GeneProduct81 (Entrez Gene) Original kegg element: gene;59;hsa:81 hsa:87 hsa:88 hsa:89
ATP2A2GeneProduct488 (Entrez Gene) Original kegg element: gene;5;hsa:488
CACNA1CGeneProduct775 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNA1DGeneProduct776 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNA1FGeneProduct778 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNA1SGeneProduct779 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNA2D1GeneProduct781 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNA2D2GeneProduct9254 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNA2D3GeneProduct55799 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNA2D4GeneProduct93589 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNB1GeneProduct782 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNB2GeneProduct783 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNB3GeneProduct784 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNB4GeneProduct785 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNG1GeneProduct786 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNG2GeneProduct10369 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNG3GeneProduct10368 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNG4GeneProduct27092 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNG5GeneProduct27091 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNG6GeneProduct59285 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNG7GeneProduct59284 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNG8GeneProduct59283 (Entrez Gene) Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CDH2GeneProduct1000 (Entrez Gene) Original kegg element: gene;56;hsa:1000
CTNNA1GeneProduct1495 (Entrez Gene) Original kegg element: gene;58;hsa:1495 hsa:1496 hsa:29119
CTNNA2GeneProduct1496 (Entrez Gene) Original kegg element: gene;61;hsa:1495 hsa:1496 hsa:29119
CTNNA3GeneProduct29119 (Entrez Gene) Original kegg element: gene;61;hsa:1495 hsa:1496 hsa:29119
CTNNB1GeneProduct1499 (Entrez Gene) Original kegg element: gene;64;hsa:1499
CalciumMetaboliteC00076 (KEGG Compound)
Cardiac muscle contractionPathwayWP383 (WikiPathways) Original kegg element: map;7;path:hsa04260
DAG1GeneProduct1605 (Entrez Gene) Original kegg element: gene;11;hsa:1605
DESGeneProduct1674 (Entrez Gene) Original kegg element: gene;54;hsa:1674
DMDGeneProduct1756 (Entrez Gene) Original kegg element: gene;17;hsa:1756
DSC2GeneProduct1824 (Entrez Gene) Original kegg element: gene;30;hsa:1824
DSG2GeneProduct1829 (Entrez Gene) Original kegg element: gene;26;hsa:1829
DSPGeneProduct1832 (Entrez Gene) Original kegg element: gene;46;hsa:1832
ECM-receptor interactionPathwayWP306 (WikiPathways) Original kegg element: map;14;path:hsa04512
EMDGeneProduct2010 (Entrez Gene) Original kegg element: gene;15;hsa:2010
GJA1GeneProduct2697 (Entrez Gene) Original kegg element: gene;69;hsa:2697
Gap junctionPathwayWP1820 (WikiPathways) Original kegg element: map;49;path:hsa04540
ITGA10GeneProduct8515 (Entrez Gene) Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ITGA11GeneProduct22801 (Entrez Gene) Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ITGA1GeneProduct3672 (Entrez Gene) Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ITGA2GeneProduct3673 (Entrez Gene) Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ITGA2BGeneProduct3674 (Entrez Gene) Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ITGA3GeneProduct3675 (Entrez Gene) Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ITGA4GeneProduct3676 (Entrez Gene) Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ITGA5GeneProduct3678 (Entrez Gene) Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ITGA6GeneProduct3655 (Entrez Gene) Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ITGA7GeneProduct3679 (Entrez Gene) Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ITGA8GeneProduct8516 (Entrez Gene) Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ITGA9GeneProduct3680 (Entrez Gene) Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ITGAVGeneProduct3685 (Entrez Gene) Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ITGB1GeneProduct3688 (Entrez Gene) Original kegg element: gene;52;hsa:3688 hsa:3690 hsa:3691 hsa:3693 hsa:3694 hsa:3695 hsa:3696
ITGB3GeneProduct3690 (Entrez Gene) Original kegg element: gene;52;hsa:3688 hsa:3690 hsa:3691 hsa:3693 hsa:3694 hsa:3695 hsa:3696
ITGB4GeneProduct3691 (Entrez Gene) Original kegg element: gene;52;hsa:3688 hsa:3690 hsa:3691 hsa:3693 hsa:3694 hsa:3695 hsa:3696
ITGB5GeneProduct3693 (Entrez Gene) Original kegg element: gene;52;hsa:3688 hsa:3690 hsa:3691 hsa:3693 hsa:3694 hsa:3695 hsa:3696
ITGB6GeneProduct3694 (Entrez Gene) Original kegg element: gene;52;hsa:3688 hsa:3690 hsa:3691 hsa:3693 hsa:3694 hsa:3695 hsa:3696
ITGB7GeneProduct3695 (Entrez Gene) Original kegg element: gene;52;hsa:3688 hsa:3690 hsa:3691 hsa:3693 hsa:3694 hsa:3695 hsa:3696
ITGB8GeneProduct3696 (Entrez Gene) Original kegg element: gene;52;hsa:3688 hsa:3690 hsa:3691 hsa:3693 hsa:3694 hsa:3695 hsa:3696
JUPGeneProduct3728 (Entrez Gene) Original kegg element: gene;38;hsa:3728
LAMA2GeneProduct3908 (Entrez Gene) Original kegg element: gene;13;hsa:3908
LEF1GeneProduct51176 (Entrez Gene) Original kegg element: gene;63;hsa:51176 hsa:6932 hsa:6934 hsa:83439
LMNAGeneProduct4000 (Entrez Gene) Original kegg element: gene;16;hsa:4000
PKP2GeneProduct5318 (Entrez Gene) Original kegg element: gene;37;hsa:5318
RYR2GeneProduct6262 (Entrez Gene) Original kegg element: gene;4;hsa:6262
SGCAGeneProduct6442 (Entrez Gene) Original kegg element: gene;10;hsa:6442
SGCBGeneProduct6443 (Entrez Gene) Original kegg element: gene;9;hsa:6443
SGCDGeneProduct6444 (Entrez Gene) Original kegg element: gene;1;hsa:6444
SGCGGeneProduct6445 (Entrez Gene) Original kegg element: gene;8;hsa:6445
SLC8A1GeneProduct6546 (Entrez Gene) Original kegg element: gene;6;hsa:6546
SodiumMetaboliteC01330 (KEGG Compound)
TCF7GeneProduct6932 (Entrez Gene) Original kegg element: gene;63;hsa:51176 hsa:6932 hsa:6934 hsa:83439
TCF7L1GeneProduct83439 (Entrez Gene) Original kegg element: gene;63;hsa:51176 hsa:6932 hsa:6934 hsa:83439
TCF7L2GeneProduct6934 (Entrez Gene) Original kegg element: gene;63;hsa:51176 hsa:6932 hsa:6934 hsa:83439
Wnt signaling pathwayPathwayWP428 (WikiPathways) Original kegg element: map;50;path:hsa04310

Annotated Interactions

No annotated interactions
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