Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

RYR2_HUMAN

Evidence for PS localization

GO
G2C
SynGO
SynaptomeDB
HPA (protein expression in neurons)

Functions

Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development. [View more on UniProt]

Protein features

Binary interactions with known binding regions

To display all evidence describing the interaction with a partner, click on the protein name left to the bars.

Network

Download full PS network for entry.

Isoforms

Disease-causing germline mutations

Position Amino acid Mutation Disease Overlap with binding region
433 Leu Pro Arrhythmogenicrightventriculardysplasia,familial,2(ARVD2) -
433 Leu Pro Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
2246 Ser Leu Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
2328 Pro Ser Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
2386 Asn Ile Arrhythmogenicrightventriculardysplasia,familial,2(ARVD2) -
2386 Asn Ile Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
2474 Arg Ser Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4104 Asn Lys Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4201 Gln Arg Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4497 Arg Cys Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4653 Val Phe Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
2306 Val Ile Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4902 Pro Leu Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4959 Arg Gln Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
164 Pro Ser Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
176 Arg Gln Arrhythmogenicrightventriculardysplasia,familial,2(ARVD2) -
176 Arg Gln Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
414 Arg Leu Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
419 Ile Phe Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
420 Arg Trp Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
2311 Glu Asp Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
2387 Ala Pro Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
2392 Tyr Cys Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
2403 Ala Thr Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
2504 Thr Met Arrhythmogenicrightventriculardysplasia,familial,2(ARVD2) -
2504 Thr Met Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
3778 Leu Phe Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
3946 Gly Ser Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4097 Asn Ser Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4146 Glu Lys Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4158 Thr Pro Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4499 Phe Cys Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4504 Met Ile Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4510 Ala Thr Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4607 Ala Pro Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4671 Gly Arg Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4771 Val Ile Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4848 Ile Val Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4860 Ala Gly Ventriculararrhythmiasduetocardiacryanodinereceptorcalciumreleasedeficiencysyndrome(VACRDS) -
4867 Ile Met Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4880 Val Ala Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4895 Asn Asp Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4950 Glu Lys Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4955 Gly Glu - -
3800 Cys Phe Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4124 Ser Thr Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4159 Gln Pro Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
4556 Ala Thr Ventriculartachycardia,catecholaminergicpolymorphic,1,withorwithoutatrialdysfunctionand/ordilatedcardiomyopathy(CPVT1) -
3774 Gln Leu Ventriculararrhythmiasduetocardiacryanodinereceptorcalciumreleasedeficiencysyndrome(VACRDS) -
4196 Thr Ile Ventriculararrhythmiasduetocardiacryanodinereceptorcalciumreleasedeficiencysyndrome(VACRDS) -
4646 Asp Ala Ventriculararrhythmiasduetocardiacryanodinereceptorcalciumreleasedeficiencysyndrome(VACRDS) -
4938 Ser Phe Ventriculararrhythmiasduetocardiacryanodinereceptorcalciumreleasedeficiencysyndrome(VACRDS) -

Linear motifs

No annotated instance was found. To search for linear motifs, use the ELM prediction server.

Fingerprint

Molecular function

Term Name % Distance from the top of the tree Annotated in RYR2_HUMAN
GO:0046872 metal ion binding 30.8824 4 yes
GO:0019900 kinase binding 22.0588 4 yes
GO:0019901 protein kinase binding 22.0588 5 yes
GO:0017076 purine nucleotide binding 22.0588 4 no
GO:0032555 purine ribonucleotide binding 22.0588 4 no
GO:0005509 calcium ion binding 13.2353 5 yes
GO:0015267 channel activity 10.2941 4 yes
GO:0005216 ion channel activity 8.8235 4 yes
GO:0008324 cation transmembrane transporter activity 8.8235 4 yes
GO:0015085 calcium ion transmembrane transporter activity 8.8235 6 yes
GO:0022890 inorganic cation transmembrane transporter activity 8.8235 4 yes
GO:0046873 metal ion transmembrane transporter activity 8.8235 5 yes
GO:0005261 cation channel activity 7.3529 5 yes
GO:0005262 calcium channel activity 7.3529 6 yes
GO:0022836 gated channel activity 7.3529 5 yes
GO:0034236 protein kinase A catalytic subunit binding 5.8824 4 yes
GO:0005217 intracellular ligand-gated ion channel activity 4.4118 6 yes
GO:0015276 ligand-gated ion channel activity 4.4118 5 yes
GO:0015278 calcium-release channel activity 4.4118 7 yes
GO:0022834 ligand-gated channel activity 4.4118 6 yes
GO:0034237 protein kinase A regulatory subunit binding 4.4118 4 yes
GO:0099094 ligand-gated cation channel activity 4.4118 6 yes
GO:0099604 ligand-gated calcium channel activity 4.4118 7 yes
GO:0005219 ryanodine-sensitive calcium-release channel activity 2.9412 8 yes
GO:0048763 calcium-induced calcium release activity 2.9412 8 yes

Biological process

Term Name % Distance from top the of the tree Annotated in RYR2_HUMAN
GO:0048522 positive regulation of cellular process 54.4118 4 yes
GO:0048523 negative regulation of cellular process 54.4118 4 yes
GO:0010646 regulation of cell communication 48.5294 4 yes
GO:0060255 regulation of macromolecule metabolic process 45.5882 4 no
GO:0051049 regulation of transport 45.5882 4 yes
GO:0031323 regulation of cellular metabolic process 42.6471 4 no
GO:0080090 regulation of primary metabolic process 42.6471 4 no
GO:0051171 regulation of nitrogen compound metabolic process 41.1765 4 no
GO:0051128 regulation of cellular component organization 36.7647 4 no
GO:0022607 cellular component assembly 32.3529 4 no
GO:0043269 regulation of ion transport 32.3529 5 yes
GO:0044057 regulation of system process 32.3529 4 yes
GO:0009966 regulation of signal transduction 30.8824 4 no
GO:0008104 protein localization 30.8824 4 yes
GO:0006996 organelle organization 29.4118 4 no
GO:0051246 regulation of protein metabolic process 29.4118 5 no
GO:0010959 regulation of metal ion transport 27.9412 6 yes
GO:0034762 regulation of transmembrane transport 27.9412 4 yes
GO:0034765 regulation of ion transmembrane transport 27.9412 5 yes
GO:0051050 positive regulation of transport 27.9412 4 yes
GO:1903522 regulation of blood circulation 26.4706 5 yes
GO:1904062 regulation of cation transmembrane transport 26.4706 6 yes
GO:0010468 regulation of gene expression 25.0000 5 no
GO:0036211 protein modification process 25.0000 4 no
GO:0043412 macromolecule modification 25.0000 4 no
GO:0009892 negative regulation of metabolic process 25.0000 4 no
GO:0009889 regulation of biosynthetic process 25.0000 4 no
GO:0031326 regulation of cellular biosynthetic process 25.0000 5 no
GO:0006796 phosphate-containing compound metabolic process 23.5294 4 no
GO:0010605 negative regulation of macromolecule metabolic process 23.5294 5 no
GO:0009893 positive regulation of metabolic process 23.5294 4 no
GO:0010941 regulation of cell death 23.5294 4 no
GO:0008016 regulation of heart contraction 23.5294 6 yes
GO:0051924 regulation of calcium ion transport 23.5294 7 yes
GO:0090257 regulation of muscle system process 22.0588 5 yes
GO:0060341 regulation of cellular localization 22.0588 4 no
GO:0048584 positive regulation of response to stimulus 22.0588 4 no
GO:0031324 negative regulation of cellular metabolic process 22.0588 5 no
GO:0031399 regulation of protein modification process 22.0588 6 no
GO:0051172 negative regulation of nitrogen compound metabolic process 22.0588 5 no
GO:0010556 regulation of macromolecule biosynthetic process 22.0588 5 no
GO:0042981 regulation of apoptotic process 22.0588 6 no
GO:0043067 regulation of programmed cell death 22.0588 5 no
GO:0048878 chemical homeostasis 22.0588 4 yes
GO:0051240 positive regulation of multicellular organismal process 22.0588 4 yes
GO:1903169 regulation of calcium ion transmembrane transport 20.5882 7 yes
GO:0010647 positive regulation of cell communication 20.5882 5 no
GO:0023056 positive regulation of signaling 20.5882 4 no
GO:0043933 protein-containing complex organization 20.5882 4 no
GO:0051130 positive regulation of cellular component organization 20.5882 5 no
GO:1902531 regulation of intracellular signal transduction 20.5882 5 no
GO:0010648 negative regulation of cell communication 20.5882 5 no
GO:0023057 negative regulation of signaling 20.5882 4 no
GO:0006937 regulation of muscle contraction 20.5882 6 yes
GO:0006942 regulation of striated muscle contraction 20.5882 7 yes
GO:0022898 regulation of transmembrane transporter activity 20.5882 4 yes
GO:0032412 regulation of ion transmembrane transporter activity 20.5882 5 yes
GO:0055117 regulation of cardiac muscle contraction 20.5882 7 yes
GO:0006811 ion transport 19.1176 4 yes
GO:0019932 second-messenger-mediated signaling 19.1176 4 yes
GO:0043270 positive regulation of ion transport 19.1176 5 yes
GO:0051282 regulation of sequestering of calcium ion 19.1176 4 yes
GO:0051279 regulation of release of sequestered calcium ion into cytosol 17.6471 5 yes
GO:0071310 cellular response to organic substance 17.6471 4 yes
GO:1901019 regulation of calcium ion transmembrane transporter activity 16.1765 6 yes
GO:0006812 cation transport 16.1765 5 yes
GO:0010038 response to metal ion 16.1765 4 yes
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum 16.1765 6 yes
GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling 16.1765 6 yes
GO:0019722 calcium-mediated signaling 16.1765 5 yes
GO:0030001 metal ion transport 16.1765 6 yes
GO:0034764 positive regulation of transmembrane transport 16.1765 5 yes
GO:0034767 positive regulation of ion transmembrane transport 16.1765 6 yes
GO:0098771 inorganic ion homeostasis 14.7059 6 yes
GO:1901701 cellular response to oxygen-containing compound 14.7059 4 yes
GO:1904064 positive regulation of cation transmembrane transport 14.7059 7 yes
GO:0006816 calcium ion transport 14.7059 7 yes
GO:0006873 cellular ion homeostasis 14.7059 4 yes
GO:0006875 cellular metal ion homeostasis 14.7059 6 yes
GO:0010243 response to organonitrogen compound 14.7059 4 yes
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion 14.7059 7 yes
GO:0030003 cellular cation homeostasis 14.7059 5 yes
GO:0032970 regulation of actin filament-based process 14.7059 4 yes
GO:0050801 ion homeostasis 14.7059 5 yes
GO:0051592 response to calcium ion 14.7059 5 yes
GO:0055065 metal ion homeostasis 14.7059 7 yes
GO:0055080 cation homeostasis 14.7059 6 yes
GO:0072503 cellular divalent inorganic cation homeostasis 13.2353 6 yes
GO:0072507 divalent inorganic cation homeostasis 13.2353 7 yes
GO:0098901 regulation of cardiac muscle cell action potential 13.2353 4 yes
GO:0006874 cellular calcium ion homeostasis 13.2353 7 yes
GO:0014070 response to organic cyclic compound 13.2353 4 yes
GO:0055074 calcium ion homeostasis 13.2353 8 yes
GO:0001508 action potential 11.7647 4 yes
GO:0032411 positive regulation of transporter activity 11.7647 4 yes
GO:0032414 positive regulation of ion transmembrane transporter activity 11.7647 5 yes
GO:0051928 positive regulation of calcium ion transport 11.7647 6 yes
GO:0071417 cellular response to organonitrogen compound 10.2941 4 yes
GO:0098655 cation transmembrane transport 10.2941 4 yes
GO:0098660 inorganic ion transmembrane transport 10.2941 4 yes
GO:0098662 inorganic cation transmembrane transport 10.2941 5 yes
GO:1901699 cellular response to nitrogen compound 10.2941 4 yes
GO:1904427 positive regulation of calcium ion transmembrane transport 10.2941 7 yes
GO:0006936 muscle contraction 10.2941 4 yes
GO:0051284 positive regulation of sequestering of calcium ion 10.2941 5 yes
GO:0086001 cardiac muscle cell action potential 8.8235 5 yes
GO:0086002 cardiac muscle cell action potential involved in contraction 8.8235 6 yes
GO:0086004 regulation of cardiac muscle cell contraction 8.8235 6 yes
GO:0086064 cell communication by electrical coupling involved in cardiac conduction 8.8235 4 yes
GO:1901021 positive regulation of calcium ion transmembrane transporter activity 8.8235 6 yes
GO:1903115 regulation of actin filament-based movement 8.8235 5 yes
GO:0070588 calcium ion transmembrane transport 8.8235 6 yes
GO:0097553 calcium ion transmembrane import into cytosol 7.3529 7 yes
GO:1903779 regulation of cardiac conduction 7.3529 4 yes
GO:0002009 morphogenesis of an epithelium 7.3529 4 yes
GO:0005513 detection of calcium ion 7.3529 4 yes
GO:0006915 apoptotic process 7.3529 4 yes
GO:0033365 protein localization to organelle 7.3529 5 yes
GO:0071407 cellular response to organic cyclic compound 7.3529 5 yes
GO:0086005 ventricular cardiac muscle cell action potential 5.8824 7 yes
GO:0098911 regulation of ventricular cardiac muscle cell action potential 5.8824 5 yes
GO:0003143 embryonic heart tube morphogenesis 5.8824 4 yes
GO:0006941 striated muscle contraction 5.8824 5 yes
GO:0035584 calcium-mediated signaling using intracellular calcium source 5.8824 6 yes
GO:0036293 response to decreased oxygen levels 5.8824 4 yes
GO:0051209 release of sequestered calcium ion into cytosol 5.8824 6 yes
GO:0051283 negative regulation of sequestering of calcium ion 5.8824 5 yes
GO:0051480 regulation of cytosolic calcium ion concentration 5.8824 8 yes
GO:0060562 epithelial tube morphogenesis 5.8824 4 yes
GO:0070296 sarcoplasmic reticulum calcium ion transport 5.8824 8 yes
GO:0071867 response to monoamine 4.4118 5 yes
GO:0071868 cellular response to monoamine stimulus 4.4118 5 yes
GO:0071869 response to catecholamine 4.4118 4 yes
GO:0071870 cellular response to catecholamine stimulus 4.4118 5 yes
GO:0071871 response to epinephrine 4.4118 5 yes
GO:0071872 cellular response to epinephrine stimulus 4.4118 6 yes
GO:0072594 establishment of protein localization to organelle 4.4118 4 yes
GO:0098735 positive regulation of the force of heart contraction 4.4118 4 yes
GO:0098907 regulation of SA node cell action potential 4.4118 5 yes
GO:0098910 regulation of atrial cardiac muscle cell action potential 4.4118 5 yes
GO:1903524 positive regulation of blood circulation 4.4118 5 yes
GO:0003300 cardiac muscle hypertrophy 4.4118 6 yes
GO:0010460 positive regulation of heart rate 4.4118 4 yes
GO:0014896 muscle hypertrophy 4.4118 4 yes
GO:0014897 striated muscle hypertrophy 4.4118 5 yes
GO:0045823 positive regulation of heart contraction 4.4118 6 yes
GO:0060402 calcium ion transport into cytosol 4.4118 4 yes
GO:0070972 protein localization to endoplasmic reticulum 4.4118 6 yes
GO:0071415 cellular response to purine-containing compound 2.9412 5 yes
GO:0072599 establishment of protein localization to endoplasmic reticulum 2.9412 5 yes
GO:0086029 Purkinje myocyte to ventricular cardiac muscle cell signaling 2.9412 4 yes
GO:0086068 Purkinje myocyte to ventricular cardiac muscle cell communication 2.9412 4 yes
GO:0097050 type B pancreatic cell apoptotic process 2.9412 6 yes
GO:0098904 regulation of AV node cell action potential 2.9412 5 yes
GO:1901894 regulation of ATPase-coupled calcium transmembrane transporter activity 2.9412 4 yes
GO:1901896 positive regulation of ATPase-coupled calcium transmembrane transporter activity 2.9412 5 yes
GO:1903514 release of sequestered calcium ion into cytosol by endoplasmic reticulum 2.9412 7 yes
GO:1904019 epithelial cell apoptotic process 2.9412 5 yes
GO:0003220 left ventricular cardiac muscle tissue morphogenesis 2.9412 7 yes
GO:0014074 response to purine-containing compound 2.9412 5 yes
GO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum 2.9412 8 yes
GO:0031000 response to caffeine 2.9412 6 yes
GO:0032781 positive regulation of ATP-dependent activity 2.9412 4 yes
GO:0035994 response to muscle stretch 2.9412 4 yes
GO:0043279 response to alkaloid 2.9412 5 yes
GO:0055008 cardiac muscle tissue morphogenesis 2.9412 5 yes
GO:0055010 ventricular cardiac muscle tissue morphogenesis 2.9412 6 yes
GO:0060048 cardiac muscle contraction 2.9412 6 yes
GO:0060415 muscle tissue morphogenesis 2.9412 4 yes
GO:0071312 cellular response to alkaloid 2.9412 5 yes
GO:0071313 cellular response to caffeine 2.9412 6 yes

Disease

Term Name % Distance from top the of the tree Annotated in RYR2_HUMAN
DOID:114 heart disease 10.2941 3 yes
DOID:0050700 cardiomyopathy 8.8235 4 yes
DOID:0060036 intrinsic cardiomyopathy 8.8235 5 yes
DOID:0060674 catecholaminergic polymorphic ventricular tachycardia 4.4118 5 yes
DOID:10273 heart conduction disease 4.4118 4 yes
DOID:2843 long QT syndrome 4.4118 6 no
DOID:0050431 arrhythmogenic right ventricular cardiomyopathy 2.9412 6 yes
DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 2.9412 6 yes
DOID:0110071 arrhythmogenic right ventricular dysplasia 2 2.9412 7 yes
DOID:0080000 muscular disease 2.9412 3 no
DOID:423 myopathy 2.9412 5 no
DOID:66 muscle tissue disease 2.9412 4 no

All partners

Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
CALM2_HUMAN [view entry] [view interactions] Low throughput yes yes
CALM3_HUMAN [view entry] [view interactions] Low throughput yes yes
CALM1_HUMAN [view entry] [view interactions] Low throughput yes yes
RYR2_HUMAN [view entry] [view interactions] Low throughput yes yes
RYR1_HUMAN [view interactions] Low throughput no no
SORCN_HUMAN [view entry] [view interactions] Low throughput yes yes
PLCE1_HUMAN [view interactions] Low throughput no yes
AKAP6_HUMAN [view interactions] Low throughput no no
KAPCA_HUMAN [view entry] [view interactions] Low throughput yes yes
SRCH_HUMAN [view interactions] Low throughput no no
PKD2_HUMAN [view interactions] Low throughput no yes
KCC2D_HUMAN [view entry] [view interactions] Low throughput yes yes
CAC1C_HUMAN [view entry] [view interactions] Low throughput yes no
FKB1A_HUMAN [view interactions] Low throughput no yes
RYR3_HUMAN [view interactions] Low throughput no no
PSN2_HUMAN [view entry] [view interactions] Low throughput yes no
RTN1_HUMAN [view entry] [view interactions] Low throughput yes yes
HOME1_HUMAN [view entry] [view interactions] Low throughput yes yes
PSN1_HUMAN [view entry] [view interactions] Low throughput yes yes
KAPCG_HUMAN [view interactions] Low throughput no no
KAPCB_HUMAN [view entry] [view interactions] Low throughput yes yes
KCNN4_HUMAN [view interactions] Low throughput no no
CAC1D_HUMAN [view interactions] Low throughput no yes
JPH3_HUMAN [view interactions] Low throughput no no
JPH4_HUMAN [view interactions] Low throughput no no
KAP2_HUMAN [view entry] [view interactions] Low throughput yes yes
KAP3_HUMAN [view entry] [view interactions] Low throughput yes yes
PP1A_HUMAN [view entry] [view interactions] Low throughput yes yes
PP1B_HUMAN [view entry] [view interactions] Low throughput yes yes
PP1G_HUMAN [view entry] [view interactions] Low throughput yes yes
S10A1_HUMAN [view interactions] Low throughput no yes
FKB1B_HUMAN [view entry] [view interactions] Low throughput yes yes
GOGA2_HUMAN [view entry] [view interactions] High throughput yes yes
CFTR_HUMAN [view interactions] High throughput no no
ALBU_HUMAN [view interactions] High throughput no no
CAV3_HUMAN [view interactions] High throughput no no
NONO_HUMAN [view interactions] High throughput no yes
EIF3H_HUMAN [view interactions] High throughput no yes
G3BP2_HUMAN [view entry] [view interactions] High throughput yes yes
MYPC3_HUMAN [view interactions] High throughput no no
COBL1_HUMAN [view interactions] High throughput no yes
IF6_HUMAN [view interactions] High throughput no yes
SYVC_HUMAN [view interactions] High throughput no yes
LRC10_HUMAN [view interactions] High throughput no no
DYHC1_HUMAN [view entry] [view interactions] High throughput yes yes
PLEC_HUMAN [view entry] [view interactions] High throughput yes yes
FIBB_HUMAN [view entry] [view interactions] High throughput yes no
FIBA_HUMAN [view interactions] High throughput no no
FIBG_HUMAN [view entry] [view interactions] High throughput yes no
ODPB_HUMAN [view entry] [view interactions] High throughput yes yes
TCPB_HUMAN [view entry] [view interactions] High throughput yes yes
1433Z_HUMAN [view entry] [view interactions] High throughput yes yes
TCPG_HUMAN [view entry] [view interactions] High throughput yes yes
SPTN4_HUMAN [view entry] [view interactions] High throughput yes no
C1QC_HUMAN [view entry] [view interactions] High throughput yes yes
ODP2_HUMAN [view entry] [view interactions] High throughput yes yes
AINX_HUMAN [view entry] [view interactions] High throughput yes yes
ARF1_HUMAN [view entry] [view interactions] High throughput yes yes
ODB2_HUMAN [view entry] [view interactions] High throughput yes yes
TBB2A_HUMAN [view entry] [view interactions] High throughput yes yes
TBB2B_HUMAN [view entry] [view interactions] High throughput yes yes
MY18B_HUMAN [view interactions] High throughput no no
H33_HUMAN [view interactions] High throughput no yes
ODPA_HUMAN [view entry] [view interactions] High throughput yes yes
TGM3_HUMAN [view interactions] High throughput no no
AATC_HUMAN [view entry] [view interactions] High throughput yes yes
IRAG2_HUMAN [view interactions] High throughput no yes
CATD_HUMAN [view interactions] High throughput no yes
SFPQ_HUMAN [view entry] [view interactions] High throughput yes yes
HRG_HUMAN [view interactions] High throughput no no
KNG1_HUMAN [view interactions] High throughput no no
ODPX_HUMAN [view entry] [view interactions] High throughput yes yes
MYH1_HUMAN [view interactions] High throughput no no
RL19_HUMAN [view entry] [view interactions] High throughput yes yes
PSA2_HUMAN [view interactions] High throughput no yes
2AAA_HUMAN [view entry] [view interactions] High throughput yes no
EF1D_HUMAN [view entry] [view interactions] High throughput yes yes
SNTA1_HUMAN [view entry] [view interactions] High throughput yes no
PSA3_HUMAN [view interactions] High throughput no no
DLDH_HUMAN [view entry] [view interactions] High throughput yes yes
SPEG_HUMAN [view interactions] High throughput no no
CTNA1_HUMAN [view entry] [view interactions] High throughput yes yes
SPAT7_HUMAN [view interactions] High throughput no no
PSA4_HUMAN [view entry] [view interactions] High throughput yes yes
SHAN3_HUMAN [view entry] [view interactions] High throughput yes no
EF1G_HUMAN [view entry] [view interactions] High throughput yes yes
FABPH_HUMAN [view entry] [view interactions] High throughput yes no
ANS1B_HUMAN [view entry] [view interactions] High throughput yes yes
MDM2_HUMAN [view interactions] High throughput no yes
BIN1_HUMAN [view entry] [view interactions] High throughput yes yes
TERF1_HUMAN [view interactions] High throughput no no
TERF2_HUMAN [view interactions] High throughput no yes
TRI25_HUMAN [view interactions] High throughput no yes
CXA1_HUMAN [view entry] [view interactions] High throughput yes yes
OTUD4_HUMAN [view interactions] High throughput no yes
ACTN2_HUMAN [view entry] [view interactions] High throughput yes yes
ITPR1_HUMAN [view entry] [view interactions] High throughput yes yes
SNX4_HUMAN [view entry] [view interactions] High throughput yes yes
CPNE9_HUMAN [view interactions] High throughput no no
RASL1_HUMAN [view entry] [view interactions] High throughput yes yes
RBM20_HUMAN [view interactions] High throughput no no
MK11_HUMAN [view interactions] High throughput no yes
GCR_HUMAN [view entry] [view interactions] High throughput yes yes
SMAD5_HUMAN [view interactions] High throughput no no
COPB_HUMAN [view interactions] High throughput no yes
TERA_HUMAN [view entry] [view interactions] High throughput yes yes
HSPB2_HUMAN [view interactions] High throughput no yes
NOS1_HUMAN [view entry] [view interactions] Computational yes yes
CASQ1_HUMAN [view interactions] Computational no yes
JPH2_HUMAN [view interactions] Computational no yes
AT2A2_HUMAN [view entry] [view interactions] Computational yes yes
CD38_HUMAN [view interactions] Computational no no
ANK2_HUMAN [view entry] [view interactions] Computational yes yes
RPGF4_HUMAN [view entry] [view interactions] Computational yes yes
ASPH_HUMAN [view interactions] Computational no yes
VDAC2_HUMAN [view entry] [view interactions] Computational yes yes
CASQ2_HUMAN [view interactions] Computational no no
P2R3A_HUMAN [view interactions] Computational no yes
DHPR_HUMAN [view entry] [view interactions] Computational yes no
KCC2B_HUMAN [view entry] [view interactions] Computational yes yes