AutismKB 2.0

Annotation Detail for ITPR2


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Basic Information Top
Gene Symbol:ITPR2 ( IP3R2 )
Gene Full Name: inositol 1,4,5-triphosphate receptor, type 2
Band: 12p11.23
Quick LinksEntrez ID:3709; OMIM: 600144; Uniprot ID:ITPR2_HUMAN; ENSEMBL ID: ENSG00000123104; HGNC ID: 6181
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04270Vascular smooth muscle contraction
hsa04912GnRH signaling pathway
hsa04720Long-term potentiation
hsa04020Calcium signaling pathway
hsa04540Gap junction
hsa04730Long-term depression
hsa04970Salivary secretion
hsa04972Pancreatic secretion
hsa05010Alzheimer's disease
hsa04971Gastric acid secretion
hsa04114Oocyte meiosis
hsa04070Phosphatidylinositol signaling system
Pathway IDPathway Name
Signaling by GPCR
Diabetes pathways
Signalling by NGF
Hemostasis
Opioid Signalling
Integration of energy metabolism
No data
Pathway IDPathway Name
P04385Histamine H1 receptor mediated signaling pathway
P00019Endothelin signaling pathway
P00042Muscarinic acetylcholine receptor 1 and 3 signaling pathway
P00010B cell activation
P00047PDGF signaling pathway
P00027Heterotrimeric G-protein signaling pathway-Gq alpha and Go alpha mediated pathway
P00031Inflammation mediated by chemokine and cytokine signaling pathway
P00057Wnt signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1781Rheumatoid arthritis
2134Amyotrophic lateral sclerosis
Desease Name
CHEMDEPENDENCY
Amyotrophic Lateral Sclerosis
NEUROLOGICAL
smoking cessation
Desease Name
Waist-hip ratio
Amyotrophic lateral sclerosis
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of ITPR2 mRNAaffects expression 21346803
C109986 2-aminoethoxydiphenyl borate 2-aminoethoxydiphenyl borate inhibits the reaction [[adenophostin A results in increased activity of ITPR2 protein] which results in increased transport of Calcium]decreases reaction|increases activity|increases transport 15201137
D000082 Acetaminophen Acetaminophen affects the expression of ITPR2 mRNAaffects expression 17562736
C085029 adenophostin A 2-aminoethoxydiphenyl borate inhibits the reaction [[adenophostin A results in increased activity of ITPR2 protein] which results in increased transport of Calcium]decreases reaction|increases activity|increases transport 15201137
C085029 adenophostin A adenophostin A results in increased activity of ITPR2 proteinincreases activity 15201137
C085029 adenophostin A [adenophostin A results in increased activity of ITPR2 protein] which results in increased transport of Calciumincreases activity|increases transport 15201137
C085029 adenophostin A xestospongin C inhibits the reaction [[adenophostin A results in increased activity of ITPR2 protein] which results in increased transport of Calcium]decreases reaction|increases activity|increases transport 15201137
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of ITPR2 mRNAdecreases expression 20106945
20064835
D002118 Calcium 2-aminoethoxydiphenyl borate inhibits the reaction [[adenophostin A results in increased activity of ITPR2 protein] which results in increased transport of Calcium]decreases reaction|increases activity|increases transport 15201137
D002118 Calcium [adenophostin A results in increased activity of ITPR2 protein] which results in increased transport of Calciumincreases activity|increases transport 15201137
D002118 Calcium xestospongin C inhibits the reaction [[adenophostin A results in increased activity of ITPR2 protein] which results in increased transport of Calcium]decreases reaction|increases activity|increases transport 15201137
D016572 Cyclosporine Cyclosporine results in decreased expression of ITPR2 mRNAdecreases expression 20106945
D009151 Mustard Gas Mustard Gas results in decreased expression of ITPR2 mRNAdecreases expression 15674843
D010126 Ozone Ozone results in decreased expression of ITPR2 mRNAdecreases expression 12763052
D010656 Phenylephrine Phenylephrine results in increased activity of ITPR2 proteinincreases activity 15201137
D010656 Phenylephrine [Phenylephrine results in increased activity of ITPR2 protein] which results in increased expression of ACTA1 mRNAincreases activity|increases expression 15201137
D010656 Phenylephrine [Phenylephrine results in increased activity of ITPR2 protein] which results in increased expression of NPPA mRNAincreases activity|increases expression 15201137
C045950 propiconazole propiconazole results in decreased expression of ITPR2 mRNAdecreases expression 19423681
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of ITPR2 mRNAdecreases expression 20106945
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of ITPR2 mRNAincreases expression 17035482
C511704 xestospongin C xestospongin C inhibits the reaction [[adenophostin A results in increased activity of ITPR2 protein] which results in increased transport of Calcium]decreases reaction|increases activity|increases transport 15201137
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9615322242 11752688 14514962
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0020464547 20127859
MESH:D000236 Adenoma Benzo(a)pyrene 2.706695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4916835633
MESH:D000544 Alzheimer Disease Ozone 2.4515513908
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0211748828
MESH:D000799 Angioedema Acetaminophen 3.9810982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1819183758
MESH:D001145 Arrhythmias, Cardiac Phenylephrine 4.1917460149
MESH:D001172 Arthritis, Rheumatoid Ozone 2.5715570426
MESH:D001249 Asthma Mustard Gas 5.1610378619
MESH:D001249 Asthma Ozone 5.1617854713 16373670
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001768 Blister Mustard Gas 5.2819167455
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8115746008
MESH:D001919 Bradycardia Phenylephrine 4.6615306635
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8920146248 17474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8920435547
MESH:D016535 Bronchial Hyperreactivity Ozone 3.7415516495 16777450 18417511 19059883 18315731 14754758 17626835
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.2815286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.1117687719 10378619
MESH:D002100 Cachexia Ozone 4.8616183385
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8616835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 2.8516705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.853084413
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0720419170
MESH:D006332 Cardiomegaly Phenylephrine 7.0217124262 16170337 15728586 17287366 11179087 11754973
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 7.0218850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.6310977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 6.766135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.7612371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2316835633
MESH:D002779 Cholestasis Cyclosporine 2.9719486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1315340226 16354765 8697196 12621046 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1218551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.2418551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.2416485898 16081117 2444490 12705907 11743745 16177239 15619225 11834606 10774834 16781746 19164858 16227642 12153990 19739265 11529661 14725611 12540782 18071297 14986274 19085960 11739529 11421492 19420014 19416960 12392966 11461765 12594235 10915739 16393943 17522070 19923254 15968718 19370779 12958197 14550746 17906064 17562736 11287661 10663392 16109766 18713872
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.2420420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2319426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8211462148
MESH:D004487 Edema Mustard Gas 7.1111428647 9260866 11428631 11402378
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.1112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0415322242 16714409 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1010568697 9294722
MESH:D004890 Erythema Mustard Gas 5.289357497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0216530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005234 Fatty Liver Cyclosporine 2.9419224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005355 Fibrosis Cyclosporine 8.8312168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.8320067830
MESH:D005756 Gastritis Acetaminophen 3.8116983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.348708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.5820471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.5810048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5415720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006529 Hepatomegaly propiconazole 9.1817178689 17178688
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.1815340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.188697196 16354765 15340226 16959395 18606429
MESH:D006930 Hyperalgesia Acetaminophen 2.7616870215
MESH:D006973 Hypertension Cyclosporine 8.7810903974
MESH:D006973 Hypertension Phenylephrine 8.7812717712 8949925
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 8.7818670907 18850075
MESH:D006984 Hypertrophy Phenylephrine 4.6312791704 18502941
MESH:D002534 Hypoxia, Brain marker/mechanism 17285299
MESH:D007249 Inflammation Mustard Gas 5.1811428647 9260866 9357497 11428620 16001271 8975870 11428631 17524151 11402378
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1812200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5815604871
MESH:D007674 Kidney Diseases Acetaminophen 5.9412587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 5.948314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.5016705839
MESH:D007680 Kidney Neoplasms Cyclosporine 7.5012371664
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 5.1816316344
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Acetaminophen 4.3812969438 16611625 11587558 16610002 19784758 19460945 12587719 19014921
MESH:D008107 Liver Diseases propiconazole 4.3819363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3116871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 10.977678174
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 10.9721137059 20195826
MESH:D008113 Liver Neoplasms propiconazole 10.9719028983
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.9716984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.236135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental propiconazole 10.2317178689
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.2312151625
MESH:D008171 Lung Diseases Mustard Gas 7.8018161513 18702808
MESH:D008171 Lung Diseases Ozone 7.8019066396 8266340
MESH:D055370 Lung Injury Ozone 3.9520417186
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 4.9320464547 20869020 18816296 17053015 18569708 18520028 20135361 20064080 6695378
MESH:D008175 Lung Neoplasms Mustard Gas 4.938781369 3148597
MESH:D008175 Lung Neoplasms Ozone 4.938597069 7614698
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.9311884234 19555203
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6719513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9216801185
MESH:D008679 Metaplasia Ozone 5.2410496685
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2516381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0812213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 3.987678174 18551238
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2011141357
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3618481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3114600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9418514411
MESH:D009503 Neutropenia Mustard Gas 4.0616761898 7688884
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5116049721
MESH:D010024 Osteoporosis Calcium 3.8317882678
MESH:D010146 Pain Acetaminophen 2.4616870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D010538 Peritonitis Ozone 4.2316369182
MESH:D011014 Pneumonia Ozone 4.5118007984 18929643 18381685
MESH:D011041 Poisoning Mustard Gas 3.8815727166
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.2912371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3111118676 11222880 11399792 11896295
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9617292933
MESH:D011537 Pruritus Mustard Gas 4.2118058305
MESH:D011565 Psoriasis Cyclosporine 2.2516882103
MESH:D011658 Pulmonary Fibrosis Mustard Gas 2.9517894541 17620002 17266442 17720292 10334151
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012640 Seizures 2,6-dinitrotoluene 2.5918551238
MESH:D012852 Sinusitis Phenylephrine 4.827327846
MESH:D012871 Skin Diseases Mustard Gas 2.7312880345 15451306 16961503
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.5910029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.5916192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.0716049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.0717053015
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.4310091137
MESH:D014581 Urticaria Acetaminophen 3.0610982225
MESH:D014605 Uveitis Cyclosporine 4.121336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
MESH:D014985 Xerophthalmia Cyclosporine 4.5817120751
Pathway ID Pathway Name
KEGG:05010 Alzheimer's disease
KEGG:04020 Calcium signaling pathway
REACT:15380 Diabetes pathways
KEGG:04540 Gap junction
KEGG:04971 Gastric acid secretion
KEGG:04724 Glutamatergic synapse
KEGG:04912 GnRH signaling pathway
REACT:604 Hemostasis
REACT:1505 Integration of energy metabolism
KEGG:04730 Long-term depression
KEGG:04720 Long-term potentiation
KEGG:04114 Oocyte meiosis
REACT:15295 Opioid Signalling
KEGG:04972 Pancreatic secretion
KEGG:04070 Phosphatidylinositol signaling system
KEGG:04970 Salivary secretion
REACT:14797 Signaling by GPCR
REACT:11061 Signalling by NGF
KEGG:04270 Vascular smooth muscle contraction
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA29979
    • No data
    Releated disease ID Related disease Name
    PA443332Amyotrophic Lateral Sclerosis
    No data
    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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