AutismKB 2.0

Annotation Detail for CACNA1D


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Basic Information Top
Gene Symbol:CACNA1D ( CACH3,CACN4,CACNL1A2,CCHL1A2,Cav1.3 )
Gene Full Name: calcium channel, voltage-dependent, L type, alpha 1D subunit
Band: 3p21.1
Quick LinksEntrez ID:776; OMIM: 114206; Uniprot ID:CAC1D_HUMAN; ENSEMBL ID: ENSG00000157388; HGNC ID: 1391
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04270Vascular smooth muscle contraction
hsa04973Carbohydrate digestion and absorption
hsa04912GnRH signaling pathway
hsa04010MAPK signaling pathway
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
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D020875 Enkephalin, Ala(2)-MePhe(4)-Gly(5)- Enkephalin, Ala(2)-MePhe(4)-Gly(5)- promotes the reaction [CACNA1D protein results in increased transport of Barium]increases reaction|increases transport 11435619
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CACNA1D mRNAaffects expression 16483693
D000661 Amphetamine CACNA1D protein affects the reaction [Amphetamine results in increased expression of DRD2 mRNA alternative form]affects reaction|increases expression 17026527
D000661 Amphetamine CACNA1D protein affects the susceptibility to Amphetamineaffects response to substance 17026527
D001464 Barium CACNA1D protein results in increased transport of Bariumincreases transport 11435619
D001464 Barium Calcium inhibits the reaction [CACNA1D protein results in increased transport of Barium]decreases reaction|increases transport 11435619
D001464 Barium Enkephalin, Ala(2)-MePhe(4)-Gly(5)- promotes the reaction [CACNA1D protein results in increased transport of Barium]increases reaction|increases transport 11435619
D001464 Barium Isradipine inhibits the reaction [CACNA1D protein results in increased transport of Barium]decreases reaction|increases transport 11435619
D001464 Barium CACNA1D protein affects the transport of Bariumaffects transport 15357422
D001464 Barium CACNA1D protein results in increased transport of Bariumincreases transport 17567805
D002118 Calcium Calcium inhibits the reaction [CACNA1D protein results in increased transport of Barium]decreases reaction|increases transport 11435619
D002118 Calcium CACNA1D protein affects the transport of Calciumaffects transport 15357422
D004958 Estradiol [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of CACNA1D mRNAaffects cotreatment|increases expression 19619570
D004958 Estradiol Estradiol results in increased expression of CACNA1D mRNAincreases expression 19619570
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of CACNA1D mRNAdecreases expression 15834898
17351261
D017275 Isradipine Isradipine inhibits the reaction [CACNA1D protein results in increased transport of Barium]decreases reaction|increases transport 11435619
D007657 Ketone Bodies Ketone Bodies results in decreased expression of CACNA1D mRNAdecreases expression 16807920
D015058 1-Naphthylisothiocyanate 1-Naphthylisothiocyanate results in increased expression of CACNA1D mRNAincreases expression 12832660
D009538 Nicotine Nicotine results in increased expression of CACNA1D proteinincreases expression 11756415
D010634 Phenobarbital Phenobarbital results in increased expression of CACNA1D mRNAincreases expression 12832660
C006253 pirinixic acid pirinixic acid results in increased expression of CACNA1D mRNAincreases expression 12832660
D013749 Tetrachlorodibenzodioxin [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of CACNA1D mRNAaffects cotreatment|increases expression 19619570
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of CACNA1D mRNAincreases expression 19619570
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 8.576195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.5715322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.6418287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.0417505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.1718653653
MESH:D000230 Adenocarcinoma Estradiol 4.2611473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.2614692618
MESH:D018248 Adenoma, Liver Cell Phenobarbital 17.7917620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 17.7916434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 17.7916835633
MESH:D000544 Alzheimer Disease Nicotine 3.2916627626
MESH:D019969 Amphetamine-Related Disorders Amphetamine 6.1416916582 16459022 15010207 18475255
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0011748828
MESH:D000855 Anorexia Amphetamine 5.0612183048 12005258 16101753 16084549
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.5411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6915885639
MESH:D001778 Blood Coagulation Disorders pirinixic acid 8.9519483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.9512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8915340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8015746008
MESH:D001943 Breast Neoplasms Estradiol 1.9312948864 17261762 16675129 19861407 17018787 14630087 18497071 17289903
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9320435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.5516111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8416835633
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.0416924424
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 3.041701930 17173139 20007298 20935162 6705139
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3916120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.8118566989
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.324080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2116835633
MESH:D002761 Cholangitis 1-Naphthylisothiocyanate 6.3012912871
MESH:D002779 Cholestasis 1-Naphthylisothiocyanate 13.7715500046 19486331 16629650 15913567 7624871 18164287 18590720 12927374
MESH:D002779 Cholestasis Ethinyl Estradiol 13.7717681005 17333356 11677210 17110522 16919318 15861022 16105132
MESH:D002779 Cholestasis pirinixic acid 13.7719176532
MESH:D002780 Cholestasis, Intrahepatic 1-Naphthylisothiocyanate 5.9510220858 19407337
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1212621046 8697196 15340226 16354765 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 15322242 10048152
MESH:D003638 Deafness marker/mechanism 15357422
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4518249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.4619279558
MESH:D056486 Drug-Induced Liver Injury 1-Naphthylisothiocyanate 4.1818289764 17522070 20133375 7624871
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.1820420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8011462148
MESH:D004421 Dystonia Phenobarbital 4.061851702
MESH:D020821 Dystonic Disorders Nicotine 6.0117881519
MESH:D004487 Edema pirinixic acid 6.7212083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.7212711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0015322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.2512538720
MESH:D016889 Endometrial Neoplasms Estradiol 3.0111473722 18566989 19148513
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.0710568697 9294722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.183659116
MESH:D004828 Epilepsies, Partial Phenobarbital 3.973922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.9120417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.596401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.327750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.103659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0511564622
MESH:D005221 Fatigue Amphetamine 5.6819890266
MESH:D005234 Fatty Liver Ethinyl Estradiol 7.7315345470
MESH:D005234 Fatty Liver pirinixic acid 7.7320131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5311858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.0220067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6910696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3611294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.5720558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3911000095
MESH:D006505 Hepatitis 1-Naphthylisothiocyanate 4.7618590720
MESH:D006526 Hepatitis C Enkephalin, Ala(2)-MePhe(4)-Gly(5)- 6.1417299060
MESH:D006529 Hepatomegaly Phenobarbital 14.8216109766
MESH:D006529 Hepatomegaly pirinixic acid 14.8219176532 16221962 18467677 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 14.8216120746 12621046 15340226
MESH:D006558 Herpes Genitalis Estradiol 5.1315709030
MESH:D019584 Hot Flashes Estradiol 3.8517088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1416959395 15340226 16354765 18606429 8697196
MESH:D006943 Hyperglycemia pirinixic acid 3.2320558911
MESH:D006948 Hyperkinesis Amphetamine 5.511977408 14960337
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9218670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.8816569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5217937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8812878042 12200463
MESH:D007333 Insulin Resistance Estradiol 7.3116627594 16393666
MESH:D007333 Insulin Resistance pirinixic acid 7.3116306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3916580747
MESH:D007674 Kidney Diseases Estradiol 2.6115618244
MESH:D007680 Kidney Neoplasms Estradiol 3.0215610895
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 5.1416316344
MESH:D008103 Liver Cirrhosis Phenobarbital 2.9221047994
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.4114716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4115474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4112878042
MESH:D008107 Liver Diseases 1-Naphthylisothiocyanate 4.5417184895
MESH:D008107 Liver Diseases Phenobarbital 4.5419363144
MESH:D008113 Liver Neoplasms Phenobarbital 7.4619812893 19073162 15975961 19482888 21047994 8742319
MESH:D008113 Liver Neoplasms pirinixic acid 7.4620007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.4616984957
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 5.901399818 18308698 17172636 6150874 2563599
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.9012151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.5917203775 11408345 16891317 11807958
MESH:D020149 Manganese Poisoning Estradiol 4.5819453300
MESH:D009135 Muscular Diseases pirinixic acid 3.5816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1619151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0612213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.3916810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.3916411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.5617484760
MESH:D009369 Neoplasms Nicotine 5.4116365874
MESH:D009369 Neoplasms pirinixic acid 5.4117405874
MESH:D009389 Neovascularization, Pathologic Estradiol 10.6417289903
MESH:D009389 Neovascularization, Pathologic Nicotine 10.6416365874
MESH:D009421 Nervous System Malformations Estradiol 9.6811399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.6814600291
MESH:D019636 Neurodegenerative Diseases Amphetamine 4.6915183010
MESH:D009765 Obesity pirinixic acid 1.8220558911
MESH:D010018 Osteomalacia Phenobarbital 4.4517016548
MESH:D010024 Osteoporosis Calcium 3.8117882678
MESH:D010051 Ovarian Neoplasms Estradiol 2.2319401270
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5116965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.7511578682
MESH:D010382 Peliosis Hepatis 1-Naphthylisothiocyanate 14.1220133375
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 14.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6218163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.672563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.2711399792 11896295 11222880 11118676
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.9420887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.0816740699
MESH:D011537 Pruritus Ethinyl Estradiol 3.3915861022 16919318
MESH:D019310 Pseudolymphoma Phenobarbital 4.5912752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.4119058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9018990726
MESH:D012640 Seizures Nicotine 6.5117873105
MESH:D012640 Seizures Phenobarbital 6.514039156 3137016 16876388 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 4.906407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.0416709447
MESH:D019956 Stereotypic Movement Disorder Amphetamine 6.521977408
MESH:D013921 Thrombocytopenia 1-Naphthylisothiocyanate 4.8020133375
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.6811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0012697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.091399818
MESH:D013978 Tibial Fractures Estradiol 4.7819048282
OMIM:188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO Nicotine 4.7716785264 16720336 11259349
MESH:D014029 Tobacco Use Disorder Nicotine 5.5218041664 18305452 17979512 15735609
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.3614692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6912125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5914671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3515886252
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:04973 Carbohydrate digestion and absorption
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:04010 MAPK signaling pathway
KEGG:04930 Type II diabetes mellitus
KEGG:04270 Vascular smooth muscle contraction
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA84
    • Releated gene ID Related gene Name
    PA84CACNA1D
    No data
    Releated drug ID Related drug Name
    PA450626nicotine
    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
    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
    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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