AutismKB 2.0

Annotation Detail for RYR2


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Basic Information Top
Gene Symbol:RYR2 ( ARVC2,ARVD2,VTSIP )
Gene Full Name: ryanodine receptor 2 (cardiac)
Band: 1q43
Quick LinksEntrez ID:6262; OMIM: 180902; Uniprot ID:RYR2_HUMAN; ENSEMBL ID: ENSG00000198626; HGNC ID: 10484
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04020Calcium signaling pathway
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414Dilated cardiomyopathy
hsa04972Pancreatic secretion
hsa04260Cardiac muscle contraction
No data
No data
Pathway IDPathway Name
P04378Beta2 adrenergic receptor signaling pathway
P04377Beta1 adrenergic receptor signaling pathway
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Circulatory system diseases
Cardiac diseases
H00293Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Desease IDDesease Name
1770Melanoma
1866Sudden infant death syndrome
2075Heart failure
2092Long QT syndrome
Desease Name
CARDIOVASCULAR
CANCER
hypertension
exercise treadmill test traits
Acute lymphoblastic leukemia (childhood)
Desease Name
Exercise treadmill test traits
Hypertension
Acute lymphoblastic leukemia (childhood)
Desease Name
Ventricular tachycardia, catecholaminergic polymorphic, 1
Arrhythmogenic right ventricular dysplasia 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of RYR2 mRNAaffects expression 17562736
D000255 Adenosine Triphosphate Caffeine promotes the reaction [RYR2 protein results in increased secretion of Adenosine Triphosphate]increases reaction|increases secretion 18446524
D002110 Caffeine Caffeine promotes the reaction [RYR2 protein results in increased abundance of Calcium]increases abundance|increases reaction 18446524
D002110 Caffeine Caffeine promotes the reaction [RYR2 protein results in increased secretion of Adenosine Triphosphate]increases reaction|increases secretion 18446524
D002110 Caffeine Caffeine results in increased activity of RYR2 proteinincreases activity 18446524
D002110 Caffeine Dantrolene inhibits the reaction [Caffeine promotes the reaction [RYR2 protein results in increased secretion of Calcium]]decreases reaction|increases reaction|increases secretion 12887973
D002110 Caffeine HOMER1 protein alternative form inhibits the reaction [Caffeine promotes the reaction [RYR2 protein results in increased secretion of Calcium]]decreases reaction|increases reaction|increases secretion 12887973
D002118 Calcium Caffeine promotes the reaction [RYR2 protein results in increased abundance of Calcium]increases abundance|increases reaction 18446524
D002118 Calcium Dantrolene inhibits the reaction [Caffeine promotes the reaction [RYR2 protein results in increased secretion of Calcium]]decreases reaction|increases reaction|increases secretion 12887973
D002118 Calcium HOMER1 protein alternative form inhibits the reaction [Caffeine promotes the reaction [RYR2 protein results in increased secretion of Calcium]]decreases reaction|increases reaction|increases secretion 12887973
D002118 Calcium HOMER1 protein alternative form inhibits the reaction [Cyclic ADP-Ribose promotes the reaction [RYR2 protein results in increased secretion of Calcium]]decreases reaction|increases reaction|increases secretion 12887973
D020111 Chlorodiphenyl (54% Chlorine) Chlorodiphenyl (54% Chlorine) results in increased expression of RYR2 proteinincreases expression 16309888
D036563 Cyclic ADP-Ribose HOMER1 protein alternative form inhibits the reaction [Cyclic ADP-Ribose promotes the reaction [RYR2 protein results in increased secretion of Calcium]]decreases reaction|increases reaction|increases secretion 12887973
D003620 Dantrolene Dantrolene inhibits the reaction [Caffeine promotes the reaction [RYR2 protein results in increased secretion of Calcium]]decreases reaction|increases reaction|increases secretion 12887973
D004317 Doxorubicin Doxorubicin inhibits the reaction [Ryanodine binds to RYR2 protein]affects binding|decreases reaction 16244372
D004317 Doxorubicin Doxorubicin results in decreased expression of RYR2 mRNAdecreases expression 16244372
D004317 Doxorubicin Doxorubicin results in decreased expression of RYR2 proteindecreases expression 16244372
D004958 Estradiol Estradiol results in decreased expression of RYR2 mRNAdecreases expression 20068009
D012433 Ryanodine Doxorubicin inhibits the reaction [Ryanodine binds to RYR2 protein]affects binding|decreases reaction 16244372
C025643 vinclozolin vinclozolin affects the expression of RYR2 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Doxorubicin 4.6017418594
MESH:D000230 Adenocarcinoma Estradiol 4.6011473722
MESH:D000419 Albuminuria Doxorubicin 4.7021441931
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D001008 Anxiety Disorders vinclozolin 3.7519015723
OMIM:600996 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 marker/mechanism
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D019046 Bone Marrow Neoplasms Doxorubicin 4.9214601052
MESH:D001932 Brain Neoplasms Doxorubicin 3.9417150277
MESH:D001943 Breast Neoplasms Doxorubicin 2.2618382427 16322301 18695136 15993339 18628466 17369602 15136595 16115903 15939500 17426702 16935488 18234424 16264153 15567936 11325840 15668708 16826403 15634643 15692762 16595493 17983394 16096432 15994142 19526202
MESH:D001943 Breast Neoplasms Estradiol 2.2617289903 16675129 12948864 17018787 17261762 14630087 18497071 19861407
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.6616111702
MESH:D002276 Carcinoid Tumor Doxorubicin 5.0316051944
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.683084413
MESH:D006528 Carcinoma, Hepatocellular Doxorubicin 4.6816234567 17876044 18059187 16023760
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.6816924424
MESH:D002292 Carcinoma, Renal Cell Doxorubicin 3.2216201981 1485588
MESH:D002294 Carcinoma, Squamous Cell Doxorubicin 2.676189445
MESH:D009202 Cardiomyopathies Doxorubicin 3.6217382496 17519947 16731534 16364871 17974986 16278810 15792986 16455267 16109756 16242529 18627295 17928571 17308081 15811867 17351982 16952015 16651473 17131338 17924179 16612575 15476868 17007740 16269455 15505089 17329180
MESH:D002311 Cardiomyopathy, Dilated Doxorubicin 2.9816243910 17334414
MESH:D002386 Cataract Acetaminophen 8.0410977129
MESH:D002386 Cataract Adenosine Triphosphate 8.0415003327
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.8618566989
MESH:D002659 Child Development Disorders, Pervasive marker/mechanism 21151189
MESH:D015179 Colorectal Neoplasms Doxorubicin 2.1418259882 18802399
MESH:D003456 Cryptorchidism vinclozolin 4.5014966744
MESH:D003928 Diabetic Nephropathies Estradiol 3.5419279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.5919164858 11287661 19085960 19739265 19370779 12153990 14550746 11461765 17562736 16177239 19923254 12705907 14986274 18713872 12594235 14725611 16109766 16781746 16081117 18071297 19420014 11743745 2444490 17522070 15619225 11739529 16393943 17906064 10663392 12540782 16227642 15968718 11529661 10915739 16485898 11421492 10774834 19416960 12392966 12958197 11834606
MESH:D056486 Drug-Induced Liver Injury Chlorodiphenyl (54% Chlorine) 6.5917851650
MESH:D056486 Drug-Induced Liver Injury Doxorubicin 6.5917416283
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3219426721
MESH:D004362 Drug Toxicity Doxorubicin 3.7718602426
MESH:D016889 Endometrial Neoplasms Doxorubicin 7.8317359293
MESH:D016889 Endometrial Neoplasms Estradiol 7.8319148513 18566989 11473722
MESH:D004719 Endomyocardial Fibrosis Doxorubicin 5.3718037988
MESH:D018222 Fibromatosis, Aggressive Doxorubicin 4.7819069698
MESH:D005756 Gastritis Acetaminophen 3.8916983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5216417039
MESH:D005909 Glioblastoma Doxorubicin 3.4317150277
MESH:D006258 Head and Neck Neoplasms Doxorubicin 3.6215692506
MESH:D006331 Heart Diseases Doxorubicin 3.5816879835 16330681 16244372 17888722 18006777 18674790 17875725 16707910 16495754 16144979 14766674 12587719 16244371
MESH:D006333 Heart Failure Doxorubicin 3.4217481944
MESH:D006394 Hemangiosarcoma Doxorubicin 4.0415692506
MESH:D006505 Hepatitis Caffeine 5.1411394713
MESH:D006521 Hepatitis, Chronic Dantrolene 6.8814986274
MESH:D006558 Herpes Genitalis Estradiol 5.2515709030
MESH:D006689 Hodgkin Disease Doxorubicin 3.5315147373 17606976 18501091
MESH:D019584 Hot Flashes Estradiol 3.9717088409
MESH:D006930 Hyperalgesia Acetaminophen 2.8116870215
MESH:D007248 Infertility, Male vinclozolin 3.1316467254
MESH:D007333 Insulin Resistance Estradiol 3.0516393666 16627594
MESH:D007674 Kidney Diseases Acetaminophen 10.5212587719 15629191
MESH:D007674 Kidney Diseases Doxorubicin 10.5216775033 15699352 15369732
MESH:D007674 Kidney Diseases Estradiol 10.5215618244
MESH:D007676 Kidney Failure, Chronic Doxorubicin 4.2916707910
MESH:D007680 Kidney Neoplasms Estradiol 3.0915610895
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 5.2616316344
MESH:D004915 Leukemia, Erythroblastic, Acute Doxorubicin 5.3716085563
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9316417039
MESH:D008106 Liver Cirrhosis, Experimental Doxorubicin 2.6316595196 16439617
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.6314659978 14716833
MESH:D008107 Liver Diseases Acetaminophen 1.6619014921 16611625 19784758 12969438 11587558 19460945 12587719 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3716871587 17185352
MESH:D008114 Liver Neoplasms, Experimental Doxorubicin 3.1016842330 17085340
MESH:D008175 Lung Neoplasms Doxorubicin 2.1517418594 6189445
MESH:D008223 Lymphoma Doxorubicin 3.5616098063
MESH:D008228 Lymphoma, Non-Hodgkin Doxorubicin 3.9117654614
MESH:D016399 Lymphoma, T-Cell Doxorubicin 4.7415621674
MESH:D008325 Mammary Neoplasms, Experimental Doxorubicin 6.4115458769
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.4116891317 11807958 11408345 17203775
MESH:D020149 Manganese Poisoning Estradiol 4.7019453300
MESH:D008545 Melanoma Doxorubicin 2.3016827129
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D008654 Mesothelioma Doxorubicin 3.1117638057
MESH:D028361 Mitochondrial Diseases Doxorubicin 4.6415792986
MESH:D052016 Mucositis Doxorubicin 4.9817415656
MESH:D009203 Myocardial Infarction Doxorubicin 3.0019429709 15857846
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.3916810080
MESH:D009362 Neoplasm Metastasis Doxorubicin 3.0018259882
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9317289903
MESH:D009401 Nephrosis Doxorubicin 4.9416636307 16899518
MESH:D009404 Nephrotic Syndrome Doxorubicin 4.1216889571 15640375
MESH:D009421 Nervous System Malformations Estradiol 3.8116427766 11399458
MESH:D009447 Neuroblastoma Doxorubicin 3.3315555623
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9918514411
MESH:D010024 Osteoporosis Calcium 3.8617882678
MESH:D012516 Osteosarcoma Doxorubicin 4.2315930896
MESH:D010051 Ovarian Neoplasms Estradiol 2.2519401270
MESH:D010146 Pain Acetaminophen 2.5016870215
MESH:D003557 Phyllodes Tumor Doxorubicin 5.3717983394
MESH:D010997 Pleural Neoplasms Doxorubicin 5.3717638057
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.0919015723 18042343 18220299
MESH:D011469 Prostatic Diseases vinclozolin 5.1318220299
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0220887781
MESH:D011471 Prostatic Neoplasms Doxorubicin 3.2916888761 18437689 15749863 16729912 15897917 16868541
MESH:D011471 Prostatic Neoplasms Estradiol 3.2916740699
MESH:D011472 Prostatitis vinclozolin 5.1318629315
MESH:D051437 Renal Insufficiency Doxorubicin 4.4017922066
MESH:D012509 Sarcoma Doxorubicin 4.1216767912 17710206 15675481 15625365 17203757 18313854
MESH:D012512 Sarcoma, Ewing's Doxorubicin 4.4014601052 16326096
MESH:D012514 Sarcoma, Kaposi Doxorubicin 4.9817846226
MESH:D012878 Skin Neoplasms Doxorubicin 3.0115692506
MESH:D012893 Sleep Disorders Caffeine 5.5119395429
MESH:D007319 Sleep Initiation and Maintenance Disorders Caffeine 5.3217225163
MESH:D012983 Soft Tissue Neoplasms Doxorubicin 4.7415625365 17203757 16767912
MESH:D017180 Tachycardia, Ventricular marker/mechanism 18052993
MESH:D013964 Thyroid Neoplasms Doxorubicin 3.4717909728 16010429
MESH:D013978 Tibial Fractures Estradiol 4.9019048282
MESH:D001749 Urinary Bladder Neoplasms Doxorubicin 2.8117653716
MESH:D014581 Urticaria Acetaminophen 3.1210982225
MESH:D018487 Ventricular Dysfunction, Left Doxorubicin 4.4017678736 16364871 17334414 17638931
OMIM:604772 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 marker/mechanism
Pathway ID Pathway Name
KEGG:05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
KEGG:04020 Calcium signaling pathway
KEGG:04260 Cardiac muscle contraction
KEGG:05414 Dilated cardiomyopathy
KEGG:05410 Hypertrophic cardiomyopathy (HCM)
KEGG:04972 Pancreatic secretion
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA300
    • No data
    No data
    Releated drug ID Related drug Name
    PA165291922doxorubicinol
    PA164744376adenosine monophosphate
    PA448478l-arginine
    PA164747225l-citrulline
    PA450635nitric oxide
    PA452249antiarrhythmics, class i and iii
    Drug Bank Top

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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