AutismKB 2.0

Annotation Detail for CACNA1C


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Basic Information Top
Gene Symbol:CACNA1C ( CACH2,CACN2,CACNL1A1,CCHL1A1,CaV1.2,MGC120730,TS )
Gene Full Name: calcium channel, voltage-dependent, L type, alpha 1C subunit
Band: 12p13.33
Quick LinksEntrez ID:775; OMIM: 114205; Uniprot ID:CAC1C_HUMAN; ENSEMBL ID: ENSG00000151067; HGNC ID: 1390
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04270Vascular smooth muscle contraction
hsa04912GnRH signaling pathway
hsa04010MAPK signaling pathway
hsa04720Long-term potentiation
hsa04020Calcium signaling pathway
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414Dilated cardiomyopathy
hsa05010Alzheimer's disease
hsa04930Type II diabetes mellitus
hsa04260Cardiac muscle contraction
Pathway IDPathway Name
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
P043745HT2 type receptor mediated signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1918Atherosclerosis
Desease Name
bipolar disorder
PSYCH
PHARMACOGENOMIC
hypertension
warfarin maintenance dose
Desease Name
Bipolar disorder
Bipolar disorder and major depressive disorder (combined)
Warfarin maintenance dose
Desease Name
Brugada syndrome 3
Timothy syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000487 Allethrin Allethrin inhibits the reaction [CACNA1C protein results in increased transport of Calcium]decreases reaction|increases transport 14634047
D000638 Amiodarone Amiodarone results in decreased expression of CACNA1C mRNAdecreases expression 15520326
D000661 Amphetamine Amphetamine results in increased expression of CACNA1C mRNAincreases expression 15329393
D000661 Amphetamine Amphetamine results in increased expression of CACNA1C proteinincreases expression 15329393
D001262 Atenolol CACNA1C gene polymorphism results in increased susceptibility to Atenololincreases response to substance 20031608
D001464 Barium CACNA1C protein affects the transport of Bariumaffects transport 11724757
D001464 Barium Zeneca ZD 6169 inhibits the reaction [CACNA1C protein affects the transport of Barium]affects transport|decreases reaction 11724757
D001464 Barium CACNA1C protein results in increased transport of Bariumincreases transport 17569661
C006780 bisphenol A bisphenol A results in increased expression of CACNA1C mRNAincreases expression 17989879
D002118 Calcium CACNA1C protein results in increased transport of Calciumincreases transport 15299022
D002118 Calcium Allethrin inhibits the reaction [CACNA1C protein results in increased transport of Calcium]decreases reaction|increases transport 14634047
D002118 Calcium CACNA1C protein results in increased transport of Calciumincreases transport 14634047
D007545 Isoproterenol Isoproterenol results in increased expression of CACNA1C mRNAincreases expression 17526999
D009538 Nicotine Nicotine results in increased expression of CACNA1C proteinincreases expression 11756415
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of CACNA1C mRNAdecreases expression 19465110
D014415 Tunicamycin Tunicamycin results in increased expression of CACNA1C mRNAincreases expression 17127020
D014700 Verapamil CACNA1C gene polymorphism results in increased susceptibility to Verapamilincreases response to substance 20031608
C095007 Zeneca ZD 6169 Zeneca ZD 6169 inhibits the reaction [CACNA1C protein affects the transport of Barium]affects transport|decreases reaction 11724757
D015032 Zinc Zinc results in increased expression of CACNA1C mRNAincreases expression 17074742
15159208
D019287 Zinc Sulfate Zinc Sulfate results in increased expression of CACNA1C mRNAincreases expression 17074742
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9015322242 11752688 14514962
MESH:D000138 Acidosis Zinc Sulfate 4.967265320
MESH:D000169 Acrodermatitis Zinc 5.4517202136 16889938 17190629
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4316835633
MESH:D000544 Alzheimer Disease Nicotine 4.7816627626
MESH:D000544 Alzheimer Disease Zinc 4.7816325427 16410023 16580781 17119284
MESH:D019969 Amphetamine-Related Disorders Amphetamine 6.1116916582 18475255 16459022 15010207
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9711748828
MESH:D000755 Anemia, Sickle Cell Zinc 4.9416916123
MESH:D000855 Anorexia Amphetamine 5.0412183048 16084549 16101753 12005258
MESH:D000860 Anoxia Zinc Sulfate 5.077265320
MESH:D001145 Arrhythmias, Cardiac marker/mechanism 15454078
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.8318218290 18057881 20041841
MESH:D001249 Asthma Zinc 2.9617085522
MESH:D001281 Atrial Fibrillation Amiodarone 3.9219698954 18651412
MESH:D001321 Autistic Disorder marker/mechanism 15454078
MESH:D001714 Bipolar Disorder marker/mechanism 18711365
MESH:D001778 Blood Coagulation Disorders Amiodarone 9.1419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.1412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8515340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7815746008
MESH:D001862 Bone Resorption bisphenol A 3.8911985600
MESH:D001919 Bradycardia Isoproterenol 5.236740701
MESH:D001930 Brain Injuries Zinc 4.7317109824
MESH:D001943 Breast Neoplasms bisphenol A 2.0517123778
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0520435547
MESH:D053840 Brugada Syndrome marker/mechanism
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8216835633
MESH:D002278 Carcinoma in Situ bisphenol A 5.0417123778
MESH:D002294 Carcinoma, Squamous Cell Zinc 2.9116543248
MESH:D006332 Cardiomegaly Atenolol 11.8415969258
MESH:D006332 Cardiomegaly Isoproterenol 11.847544033 11179087
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 11.8418850075 18670907 16120746
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9019225199 15710769
MESH:D002318 Cardiovascular Diseases Zinc 3.6816936243
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.1318974383
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1916835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1115668235 12621046 16354765 15340226 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.6810048152 20055451 15322242
MESH:D019465 Craniofacial Abnormalities Zinc 2.6819302082
MESH:D003920 Diabetes Mellitus Zinc 4.2316479319
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6717107852
MESH:D056486 Drug-Induced Liver Injury Amiodarone 3.8818218290 15265979
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8820420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7811462148
MESH:D020821 Dystonic Disorders Nicotine 5.9817881519
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.9618230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.0510568697 9294722
MESH:D004938 Esophageal Neoplasms Zinc 2.8616543248
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0311564622
MESH:D005221 Fatigue Amphetamine 5.6519890266
MESH:D005234 Fatty Liver Amiodarone 3.5514986274
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5011858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 2.9920067830
MESH:D005756 Gastritis Zinc 4.8617241300
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6610696789
MESH:D006130 Growth Disorders Zinc 3.9817217573
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3410048152 11294989
MESH:D006333 Heart Failure Atenolol 12.4120082655
MESH:D006333 Heart Failure Isoproterenol 12.4118097624
MESH:D006333 Heart Failure Zinc 12.4117162251
MESH:D006335 Heart Injuries Zinc 5.8317074742
MESH:D016481 Helicobacter Infections Zinc 4.5617241300
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3611000095
MESH:D006527 Hepatolenticular Degeneration Zinc 11.4617276780
MESH:D006527 Hepatolenticular Degeneration Zinc Sulfate 11.4617063115
MESH:D006529 Hepatomegaly Amiodarone 8.6815265979
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.6816120746 12621046 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1116354765 15340226 18606429 16959395 8697196
MESH:D006937 Hypercholesterolemia Amiodarone 3.908137927 9751232
MESH:D006948 Hyperkinesis Amphetamine 5.481977408 14960337
MESH:D006973 Hypertension Atenolol 9.1115453913 12022239 15614026 12717102 14597852 15237695 15969258 15188945 14700505 19249413 11910301 11593098
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 9.1118670907 18850075
MESH:D006973 Hypertension Verapamil 9.1117700361
MESH:D006984 Hypertrophy Isoproterenol 5.2212791704
MESH:D017379 Hypertrophy, Left Ventricular Atenolol 5.7315237695
MESH:D007003 Hypoglycemia marker/mechanism 15454078
MESH:D007022 Hypotension Isoproterenol 9.866740701
MESH:D007022 Hypotension Zinc Sulfate 9.867265320
MESH:D007037 Hypothyroidism Amiodarone 4.5618020914 17991464
MESH:D007153 Immunologic Deficiency Syndromes marker/mechanism 15454078
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8712200463 12878042
MESH:D007333 Insulin Resistance bisphenol A 3.3116393666
MESH:D007511 Ischemia Zinc 4.6716584753
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3616580747
MESH:D007674 Kidney Diseases Zinc 3.3316960431
MESH:D007676 Kidney Failure, Chronic Zinc 4.4516518626
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 5.1116316344
MESH:D016773 Leishmaniasis, Cutaneous Zinc Sulfate 4.2815237267
MESH:D017880 Limb Deformities, Congenital marker/mechanism 15454078
MESH:D008064 Lipidoses Amiodarone 3.5315342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.7316984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.1212151625
MESH:D008133 Long QT Syndrome Amiodarone 3.6015350150 17391786 11989578
MESH:D008171 Lung Diseases Amiodarone 3.3912587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.5418516814
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2311884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental Zinc 3.3112773700
MESH:D008382 Marfan Syndrome Atenolol 6.2919430350
MESH:D009181 Mycoses Amiodarone 4.9617974566 12754197
MESH:D009203 Myocardial Infarction Isoproterenol 3.8516538859 16697266 17052832 15740881 19595682 16584858 19172585
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0412213967
MESH:D009369 Neoplasms Nicotine 3.5516365874
MESH:D009389 Neovascularization, Pathologic Nicotine 5.0416365874
MESH:D009421 Nervous System Malformations bisphenol A 9.7116427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.7114600291
MESH:D019636 Neurodegenerative Diseases Amphetamine 4.6715183010
MESH:D010024 Osteoporosis Calcium 3.8017882678
MESH:D010049 Ovarian Diseases bisphenol A 5.0411985600
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3112520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5918163543
MESH:D011225 Pre-Eclampsia Zinc 4.1917114810
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 9.6810548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.6811118676 11399792 11896295 11222880
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.2420887781
MESH:D011471 Prostatic Neoplasms bisphenol A 3.5316740699
MESH:D011471 Prostatic Neoplasms Zinc 3.5316606632 12429649 16700911 16517595
MESH:D011629 Puberty, Precocious bisphenol A 4.8410548101
MESH:D011654 Pulmonary Edema Isoproterenol 5.3110903255
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.8612832656 12490602 11597910
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8718990726
MESH:D012162 Retinal Degeneration Zinc 4.1516584753
MESH:D012640 Seizures Nicotine 3.8117873105
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.1318724381
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0516192470
MESH:D019956 Stereotypic Movement Disorder Amphetamine 6.491977408
MESH:D013276 Stomach Ulcer Amiodarone 3.3418087811
MESH:D019966 Substance-Related Disorders bisphenol A 4.0316045194 16684133
MESH:D013610 Tachycardia Amiodarone 4.3211238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.2219225199
MESH:D013959 Thyroid Diseases Amiodarone 12.2619731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 12.2612697716
MESH:D018382 Thyroid Hormone Resistance Syndrome Atenolol 6.439349583
MESH:D013971 Thyrotoxicosis Amiodarone 4.9019584973 18020914
MESH:C536962 Timothy syndrome marker/mechanism 15454078
OMIM:188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO Nicotine 4.7511259349 16785264 16720336
MESH:D014029 Tobacco Use Disorder Nicotine 5.4915735609 18305452 17979512 18041664
MESH:D014062 Tongue Neoplasms Zinc 4.4216543248
MESH:D016171 Torsades de Pointes Amiodarone 4.2411989578 17467628
MESH:D014591 Uterine Diseases bisphenol A 5.0714652134
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6612125929
MESH:D018487 Ventricular Dysfunction, Left Isoproterenol 5.1618097624
MESH:D020257 Ventricular Remodeling Isoproterenol 5.7418097624
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3115886252
Pathway ID Pathway Name
KEGG:05010 Alzheimer's disease
KEGG:05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
REACT:18266 Axon guidance
KEGG:04020 Calcium signaling pathway
KEGG:04260 Cardiac muscle contraction
REACT:15380 Diabetes pathways
KEGG:05414 Dilated cardiomyopathy
KEGG:04724 Glutamatergic synapse
KEGG:04912 GnRH signaling pathway
KEGG:05410 Hypertrophic cardiomyopathy (HCM)
REACT:1505 Integration of energy metabolism
KEGG:04720 Long-term potentiation
KEGG:04010 MAPK signaling pathway
KEGG:04930 Type II diabetes mellitus
KEGG:04270 Vascular smooth muscle contraction
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA83
    • Releated gene ID Related gene Name
    PA83CACNA1C
    Releated disease ID Related disease Name
    PA443796Coronary Artery Disease
    PA443842Death
    PA446379Death, Sudden, Cardiac
    PA445019Myocardial Infarction
    PA447054Stroke
    PA447199Bipolar Disorder
    PA447228congenital long QT syndrome
    PA444807Long QT Syndrome
    PA446294Torsades de Pointes
    PA444552Hypertension
    Releated drug ID Related drug Name
    PA451906warfarin
    PA448499atenolol
    PA164712535Beta Blocking Agents
    PA10407calcium channel blockers
    PA451868verapamil
    PA448383amiodarone
    PA452233antipsychotics
    PA448486arsenic trioxide
    PA448498astemizole
    PA164754755bepridil
    PA448948chloroquine
    PA448964chlorpromazine
    PA449011cisapride
    PA449028clarithromycin
    PA449373disopyramide
    PA449389dofetilide
    PA134711056domperidone
    PA449422droperidol
    PA449493erythromycin
    PA449839halofantrine
    PA449841haloperidol
    PA449958ibutilide
    PA450215levomethadyl acetate
    PA450386mesoridazine
    PA450401methadone
    PA450850pentamidine
    PA450965pimozide
    PA451108procainamide
    PA451457sotalol
    PA451472sparfloxacin
    PA451619terfenadine
    PA451666thioridazine
    PA451209quinidine
    PA451906warfarin
    PA449591felodipine
    PA450131isradipine
    PA450620nicardipine
    PA450631nifedipine
    PA450633nimodipine
    PA450634nisoldipine
    PA146096020nitrendipine
    PA450626nicotine
    PA448388amlodipine
    PA452249antiarrhythmics, class i and iii
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00270 blocker Isradipine Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
    DB00308 activator Ibutilide Anti-Arrhythmia Agents
    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
    DB00568 antagonist Cinnarizine Calcium Channel Blockers;Anti-Allergic Agents;Histamine H1 Antagonists
    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
    DB01373 ligand Calcium
    DB01388 antagonist Mibefradil Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
    DB06712 antagonist Nilvadipine Antihypertensive Agents;Calcium Channel Blockers
    DB06751 antagonist Drotaverine
    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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