AutismKB 2.0

Annotation Detail for CACNB2


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Basic Information Top
Gene Symbol:CACNB2 ( CACNLB2,CAVB2,FLJ23743,MYSB )
Gene Full Name: calcium channel, voltage-dependent, beta 2 subunit
Band: 10p12
Quick LinksEntrez ID:783; OMIM: 600003; Uniprot ID:CACB2_HUMAN; ENSEMBL ID: ENSG00000165995; HGNC ID: 1402
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04010MAPK signaling pathway
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414Dilated cardiomyopathy
hsa04260Cardiac muscle contraction
Pathway IDPathway Name
Synaptic Transmission
Diabetes pathways
Axon guidance
Integration of energy metabolism
No data
Pathway IDPathway Name
P00003Alzheimer disease-amyloid secretase pathway
P04378Beta2 adrenergic receptor signaling pathway
P04391Oxytocin receptor mediated signaling pathway
P04377Beta1 adrenergic receptor signaling pathway
P00044Nicotinic acetylcholine receptor signaling pathway
P04394Thyrotropin-releasing hormone receptor signaling pathway
P043745HT2 type receptor mediated signaling pathway
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
Diastolic blood pressure
CARDIOVASCULAR
protein quantitative trait loci
CHEMDEPENDENCY
systolic blood pressure
hypertension
quantitative traits
smoking cessation
Desease Name
Diastolic blood pressure
Protein quantitative trait loci
Hypertension
Systolic blood pressure
Quantitative traits
Desease Name
Brugada syndrome 4
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CACNB2 mRNAaffects expression 16483693
C006632 arsenic trioxide arsenic trioxide results in increased expression of CACNB2 mRNAincreases expression 20458559
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of CACNB2 mRNAincreases expression 17484886
D003010 Clorgyline Clorgyline results in increased expression of CACNB2 mRNAincreases expression 19691856
D016572 Cyclosporine Cyclosporine results in decreased expression of CACNB2 mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of CACNB2 mRNAdecreases expression 15212814
D009151 Mustard Gas Mustard Gas affects the expression of CACNB2 mRNAaffects expression 15651846
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of CACNB2 mRNAdecreases expression 20106945
D014415 Tunicamycin Tunicamycin results in increased expression of CACNB2 mRNAincreases expression 17127020
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1314514962 11752688 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D000230 Adenocarcinoma arsenic trioxide 4.4419825857 11798837
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.4414692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001249 Asthma Mustard Gas 2.7610378619
MESH:D001768 Blister Mustard Gas 5.4419167455
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 9.6616206674
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.6612125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6920435547
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.4415286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.2917687719 10378619
MESH:D053840 Brugada Syndrome marker/mechanism
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.5511589617
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.043786805 16050911 15721981 18705752 16227642 16192424 15673190 10355542 15700767 16011737 16097048 16124888
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 3.1416217749 14691202 11135700 15553829 15073043
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 3.1418788625
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.1919014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.3112490120
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4718850075 16120746 18670907
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.6612371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis Cyclosporine 8.2819486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.2817110522 16105132 17333356 16919318 17681005 15861022 11677210
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1815340226 16354765 8697196 12621046 15668235
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2414669216 17141729
MESH:D023903 Coronary Restenosis arsenic trioxide 4.4212609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.5210525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5210048152 15322242 20055451
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.3215213294
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 3.8921278145 7120509 15968718 6884620 19085960 10092053 10915739 19336974 16177239 3732212 2869522 3786805 7440962 7179309 9327722 15027814 15998439 6623471 11566570 16227642 4309450 17522070
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema Mustard Gas 7.5311428647 9260866 11428631 11402378
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.5312711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4212538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.219294722 10568697
MESH:D004890 Erythema Mustard Gas 5.449357497
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.3512903497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver arsenic trioxide 20.5515073043
MESH:D005234 Fatty Liver Carbon Tetrachloride 20.5512631006 16239168 16045604 61145 15959796 19224547 12795759 17595544
MESH:D005234 Fatty Liver Cyclosporine 20.5519224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 20.5515345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005355 Fibrosis Carbon Tetrachloride 16.2918705752
MESH:D005355 Fibrosis Cyclosporine 16.2912168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 16.2920067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.5016904648
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4310048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.8319110552 19900420
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1516120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3618606429 15340226 16354765 8697196 16959395
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.8216899240
MESH:D006973 Hypertension Cyclosporine 5.1710903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1718850075 18670907
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3515338365
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6217937319
MESH:D007249 Inflammation Mustard Gas 5.3711428620 11428631 8975870 11428647 9260866 16001271 17524151 11402378 9357497
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3712200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.448314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 2.9012371664
MESH:D007938 Leukemia arsenic trioxide 2.9215070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.0012560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.5916972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5814633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.9719077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1619850784 16467208 20471514 17050201 16968895
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.3416891316 17869043 15213294 12018890 16823087 15622746 17649720 16966277 19642359 19225113 15336539 12679006 11468182 11161223 12712474 17217047 16330433 19075265 17712046 17107899 9834237 19035177 16331271 15748426 16112521
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.5916882451
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9117174718 16943688 17334410 17157831 16221502 21278145 11903743 11408273 16239168
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.3416248980 15730626 12649538 12958196 18395914 15996030 12445418 16027843 15931870 17766677 18412020 18339082 15338365 17631135 16638106 12632514 18376398 18187930 17557913 15362042 17805973 15673190 17922224 17761835 16015684 15123356 12898905 18156304 18251166 12741479 15818738 17708605 12546737 18429990 17481882 16192424 18472332 18210741 17869086 12586293 16136751 12632512 14748882 17823541 18472094 12667390 18277467 13678700 17714472 18395095 18420326 17944888 18481824 16097048 15650968 16011737 11481614 18705752 16033810 15959796 15370692 18279442 17640975 14724832 15057751 14620537 14716496 12389079 18205269 15876570 17721639 15052691 16116963 15925388 18166357 17565644 15893842 20821823 12609069 17525996 12445421 14716833 18418968 17698563 18263696 18054572 18317297 10355542 17900296 17976157 14512876 12666154 18006644
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3412878042
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1215830285 16964402 15720792 16246199 17285989
MESH:D017093 Liver Failure Carbon Tetrachloride 4.4215123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.8816899240 14706259
MESH:D008113 Liver Neoplasms arsenic trioxide 7.8014682389
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.8019294768
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.8016984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 10.5220377131
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 10.5215583823 12014681
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.5212151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.5115213294
MESH:D008171 Lung Diseases Mustard Gas 3.5818702808 18161513
MESH:D008175 Lung Neoplasms arsenic trioxide 3.5511798837 19825857
MESH:D008175 Lung Neoplasms Mustard Gas 3.553148597 8781369
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5511884234 19555203
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2515949261 19549372 19417148 11468182 14977855
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.9918349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2516105982 16882451
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.2016624393
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4718481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D009436 Neural Tube Defects arsenic trioxide 3.2410525206
MESH:D009503 Neutropenia Mustard Gas 4.197688884 16761898
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4616624393 12452020 19769630
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5815580305
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010235 Paraganglioma arsenic trioxide 4.3819927285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D011041 Poisoning Mustard Gas 4.0215727166
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.4012371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811896295 11222880 11118676 11399792
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.6119131511
MESH:D011471 Prostatic Neoplasms Clorgyline 3.6119691856
MESH:D011537 Pruritus Ethinyl Estradiol 10.4915861022 16919318
MESH:D011537 Pruritus Mustard Gas 10.4918058305
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D011658 Pulmonary Fibrosis Mustard Gas 2.9917266442 10334151 17894541 17720292 17620002
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.2016646077
MESH:D012871 Skin Diseases Mustard Gas 2.7612880345 15451306 16961503
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1316192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2616709447
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.2419014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.2415213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 2.5520435036 12973940 12845720 11780464
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D014605 Uveitis Cyclosporine 4.301336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7514671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.7617120751
Pathway ID Pathway Name
KEGG:05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
REACT:18266 Axon guidance
KEGG:04260 Cardiac muscle contraction
REACT:15380 Diabetes pathways
KEGG:05414 Dilated cardiomyopathy
KEGG:05410 Hypertrophic cardiomyopathy (HCM)
REACT:1505 Integration of energy metabolism
KEGG:04010 MAPK signaling pathway
REACT:13685 Synaptic Transmission
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00270 blocker Isradipine Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
DB00381 antagonist Lotrel Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers;Antianginals
DB00393 blocker Nimodipine Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
DB00401 blocker Nisoldipine Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
DB00622 antagonist Nicardipine Antihypertensive Agents;Vasodilator Agents;Antiarrhythmic Agents;Calcium Channel Blockers;Dihydropyridines
DB00653 - Tetra Fungistop Anticonvulsants;Analgesics;Calcium Channel Blockers;Anesthetics;Anti-Arrhythmia Agents;Tocolytic Agents
DB00661 blocker Tarka Vasodilator Agents;Antiarrhythmic Agents;Calcium Channel Blockers;Anti-Arrhythmia Agents
DB01023 antagonist Lexxel Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers;Dihydropyridines
DB01054 antagonist Nitrendipine Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
DB01115 blocker Nifedipine Vasodilator Agents;Calcium Channel Blockers;Tocolytic Agents;Dihydropyridines
DB01388 antagonist Mibefradil Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
DB06712 antagonist Nilvadipine Antihypertensive Agents;Calcium Channel Blockers
No data
No data
No data

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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