AutismKB 2.0

Annotation Detail for CACNA1A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CACNA1A ( APCA,CACNL1A4,CAV2.1,EA2,FHM,HPCA,MHP,MHP1,SCA6 )
Gene Full Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Band: 19p13.13
Quick LinksEntrez ID:773; OMIM: 601011; Uniprot ID:CAC1A_HUMAN; ENSEMBL ID: ENSG00000141837; HGNC ID: 1388
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04010MAPK signaling pathway
hsa04020Calcium signaling pathway
hsa04730Long-term depression
hsa04742Taste transduction
hsa04930Type II diabetes mellitus
Pathway IDPathway Name
Synaptic Transmission
Diabetes pathways
Integration of energy metabolism
No data
Pathway IDPathway Name
P00039Metabotropic glutamate receptor group III pathway
P04394Thyrotropin-releasing hormone receptor signaling pathway
P05730Endogenous cannabinoid signaling
P00037Ionotropic glutamate receptor pathway
P00040Metabotropic glutamate receptor group II pathway
P00027Heterotrimeric G-protein signaling pathway-Gq alpha and Go alpha mediated pathway
P05731GABA-B receptor II signaling
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Nervous system diseases
Neurodegenerative diseases
H00063Spinocerebellar ataxia
Desease IDDesease Name
1715Myotonic disorder
1832Congenital abnormality
1909Migraine
1917Cerebellar disease
1982Myopathy
2001Mental retardation
2055Spinocerebellar ataxias
Desease Name
spinocerebellar ataxia type 6
epilepsy
episodic ataxia type 2
NEUROLOGICAL
Cerebellar Ataxia
migraine
No data
Desease Name
Cerebellar ataxia, pure
Spinocerebellar ataxia-6
Hemiplegic migraine, familial
Episodic ataxia, type 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000487 Allethrin Allethrin inhibits the reaction [CACNA1A protein results in increased transport of Calcium]decreases reaction|increases transport 14634047
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CACNA1A mRNAaffects expression 16483693
D001464 Barium CACNA1A protein results in increased transport of Bariumincreases transport 11313431
C055494 caffeic acid phenethyl ester [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of CACNA1A mRNAaffects cotreatment|decreases expression 20360939
D002118 Calcium Allethrin inhibits the reaction [CACNA1A protein results in increased transport of Calcium]decreases reaction|increases transport 14634047
D002118 Calcium CACNA1A protein results in increased transport of Calciumincreases transport 14634047
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of CACNA1A mRNAincreases expression 16644059
D002713 Chlorine [Ozone co-treated with Chlorine] results in increased expression of CACNA1A mRNAaffects cotreatment|increases expression 18636392
D003024 Clozapine Clozapine results in decreased expression of CACNA1A mRNAdecreases expression 14647396
D003024 Clozapine Clozapine results in decreased expression of CACNA1A mRNAdecreases expression 16715494
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of CACNA1A mRNAaffects cotreatment|decreases expression 20360939
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of CACNA1A exonincreases mutagenesis 17376154
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of CACNA1A geneincreases mutagenesis 16724327
D006220 Haloperidol Haloperidol results in decreased expression of CACNA1A mRNAdecreases expression 14647396
D006220 Haloperidol Haloperidol results in decreased expression of CACNA1A mRNAdecreases expression 16715494
D010126 Ozone [Ozone co-treated with Chlorine] results in increased expression of CACNA1A mRNAaffects cotreatment|increases expression 18636392
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of CACNA1A mRNAaffects binding|increases activity|increases expression 19710929
D043343 Testosterone Propionate Testosterone Propionate results in increased expression of CACNA1A mRNAincreases expression 15601916
D014212 Tretinoin Tretinoin results in decreased expression of CACNA1A mRNAdecreases expression 16604517
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.6118287403
MESH:D055371 Acute Lung Injury Chlorine 9.2620601635
MESH:D055371 Acute Lung Injury pirinixic acid 9.2618653653
MESH:D000236 Adenoma Diethylnitrosamine 7.086695378 10737359
MESH:D000236 Adenoma Ethylnitrosourea 7.086695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 10.2619052882 19061943 18056438 16434500 17620307 17162532
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.2616434500
MESH:D000380 Agranulocytosis Clozapine 5.1016160616 14617031 12649775
MESH:D000505 Alopecia Tretinoin 3.6415955085
MESH:D000544 Alzheimer Disease Ozone 2.4415513908
MESH:D001169 Arthritis, Experimental Tretinoin 3.0916412693
MESH:D001172 Arthritis, Rheumatoid Ozone 4.6915570426
MESH:D001172 Arthritis, Rheumatoid Tretinoin 4.6916292516
MESH:D001249 Asthma Ozone 4.9816373670 17854713
MESH:D001249 Asthma Tretinoin 4.9816456186
MESH:D001259 Ataxia marker/mechanism 17376154
MESH:D001321 Autistic Disorder Haloperidol 2.7418080171 19368416
MESH:D001471 Barrett Esophagus Tretinoin 4.4416935849
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.0719483382
MESH:D001778 Blood Coagulation Disorders Tretinoin 9.0716197459 16206674
MESH:D001927 Brain Diseases Ethylnitrosourea 4.9114991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.3215144691 18412241 16357521 16436596 16651633
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.1817474063
MESH:D001943 Breast Neoplasms Tretinoin 2.1816873071 16443354 16166294
MESH:D016535 Bronchial Hyperreactivity Ozone 3.7019059883 18315731 17626835 18417511 16777450 15516495 14754758
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.6416813970
MESH:D002100 Cachexia Ozone 4.7916183385
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.8216097048 16050911 10355542 16011737 15700767 16192424 16227642 18705752 3786805 16124888 15721981 15673190
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.2216168501
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.6218788625
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 4.6216698587 10672840 16681979 17761372 16935385 16878318 18056438 19919837 19418558 19701751 19107877 18788625 18971187 20214788 20007298 17978847 18494052 18506893 20101231 17138121 16540662 19171122 20512989 17173139 18665156 16288022 16830150 17055752 18691550 20514400 19822196 19335982 16569478 16807293 16502159 3581430 19208518 18393292 20432363 16779866 19383236 20935162 18978308 18210153 16328049 19519916 10737359 3084413 17162532 21159647 20524982 19394651 20727157 17428255 20084675 19539802 18785209 11831363 19052882
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 4.621917145
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3016051514 16096774
MESH:D002375 Catalepsy Haloperidol 4.961977408 15215559
MESH:D002386 Cataract Tretinoin 3.1117460283
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 7.1117174075 7505956 21159647 2727394
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 7.1116003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.0517160924
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.6416129372
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.7119052882
MESH:D002779 Cholestasis pirinixic acid 2.8519176532
MESH:D002822 Choriocarcinoma Tretinoin 5.2216461808
MESH:D002972 Cleft Palate Tretinoin 2.689407595
MESH:D003072 Cognition Disorders Clozapine 5.0117123785
MESH:D003092 Colitis Tretinoin 3.7517035595
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.829125849 9142499 10589399 9211117 8800419 9224671 17551590 16925845 14991402 9664655
MESH:D016757 Death, Sudden, Cardiac Haloperidol 4.8720210726
MESH:D003704 Dementia Haloperidol 4.6111575062
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4418249437
MESH:D003924 Diabetes Mellitus, Type 2 Clozapine 4.7216402076
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.7220387270
MESH:D006970 Disorders of Excessive Somnolence Clozapine 5.6215331141
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 3.9419085960 6884620 16177239 15998439 6623471 3786805 16227642 19336974 9327722 11566570 15968718 15027814 7440962 10092053 17522070 7179309 7120509 2869522 4309450 21278145 3732212 10915739
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 3.9419107877
MESH:D050171 Dyslipidemias Clozapine 4.2016402076
MESH:D004417 Dyspnea Chlorine 4.6920016425
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.0518357618
MESH:D004487 Edema pirinixic acid 2.5112083418
MESH:D004489 Edema, Cardiac Tretinoin 4.5318230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.1216569247
MESH:D004832 Epilepsy, Absence marker/mechanism 17196942
OMIM:108500 EPISODIC ATAXIA, TYPE 2 marker/mechanism
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.1816302075
MESH:D005124 Eye Abnormalities Tretinoin 3.6016938888 9664655
MESH:D005234 Fatty Liver Carbon Tetrachloride 13.2761145 15959796 16239168 12795759 19224547 17595544 16045604 12631006
MESH:D005234 Fatty Liver Diethylnitrosamine 13.2720387270 21071580
MESH:D005234 Fatty Liver pirinixic acid 13.2719236843 20131406
MESH:D005355 Fibrosis Carbon Tetrachloride 8.9518705752
MESH:D005355 Fibrosis Tretinoin 8.9517994277
MESH:D005739 Gas Poisoning Chlorine 5.0720016425
MESH:D005909 Glioblastoma Ethylnitrosourea 7.4816436596
MESH:D005909 Glioblastoma Tretinoin 7.4817312396
MESH:D005910 Glioma Ethylnitrosourea 3.5016651633 16357521 18412241
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.2016096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.2216084493
MESH:D006330 Heart Defects, Congenital Tretinoin 2.9114991402 9664655
MESH:D006333 Heart Failure pirinixic acid 2.5520558911
MESH:D006505 Hepatitis Carbon Tetrachloride 3.6319110552 19900420
MESH:D006529 Hepatomegaly pirinixic acid 3.0418467677 19176532 16221962 19772884
MESH:D006930 Hyperalgesia Tretinoin 3.2316870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.5816899240
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.6116778211
MESH:D006943 Hyperglycemia pirinixic acid 3.2120558911
MESH:D006948 Hyperkinesis Clozapine 4.9616046005
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.1315338365
MESH:D007249 Inflammation Diethylnitrosamine 2.3918785209
MESH:D007333 Insulin Resistance pirinixic acid 2.6516306350
MESH:D007410 Intestinal Diseases Tretinoin 3.8117994277
MESH:D007414 Intestinal Neoplasms caffeic acid phenethyl ester 4.6110783313
MESH:D007569 Jaw Abnormalities Tretinoin 3.9315992940 17551590
MESH:D007674 Kidney Diseases caffeic acid phenethyl ester 3.5615369732
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 3.9517379185
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 5.1116316344
MESH:D007938 Leukemia Tretinoin 2.7817143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.7316932348 16482212 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.0817596541 16294345 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute caffeic acid phenethyl ester 7.9816766008
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 7.989834237 16331271 17649720 17339181 16823087 19035177 16891316 17217047 19075265 17107899 12679006 16766008 17361223 19642359 17506722 15748426 17712046 16935935 17294898 17368321 16788101 19225113 19029980 16140955 17301526
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.339224671
MESH:D008064 Lipidoses Clozapine 3.9817567588
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 6.6617157831 11903743 17174718 16221502 17334410 16943688 21278145 16239168 11408273
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 6.6619638242 18665156 18407596 20032147 18522880
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.4810355542 18481824 15876570 18277467 16011737 14716833 18418968 17565644 17631135 14748882 16033810 20821823 13678700 15057751 12667390 11481614 15996030 18705752 17900296 16116963 16192424 17823541 12958196 15959796 18263696 14716496 15123356 12666154 16027843 18472332 12586293 17944888 15052691 15650968 15362042 18317297 18187930 16015684 18429990 14724832 17766677 15893842 18156304 18166357 12741479 15730626 16097048 18395914 17640975 15370692 17761835 14512876 17525996 12445418 18376398 18210741 15818738 16248980 18395095 16638106 17721639 16136751 17976157 18412020 18279442 15338365 12445421 17805973 12609069 17922224 12632512 15925388 18420326 18006644 18339082 17481882 17708605 17869086 18251166 12898905 18205269 12632514 14620537 12389079 12649538 17714472 17557913 18472094 17698563 15931870 15673190 18054572 12546737
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4815474484
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 3.4818397230 16248980
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.0915720792 16964402 17285989 16246199 15830285
MESH:D008107 Liver Diseases Diethylnitrosamine 4.0917034775
MESH:D017093 Liver Failure Carbon Tetrachloride 4.2115123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.7216899240 14706259
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.4619294768
MESH:D008113 Liver Neoplasms Diethylnitrosamine 7.4618754104 15885732 20492335 19850985 21047994 20501860 19073162 20434301 19690152 2422723 10737359 18978307 19833225 19254457 20405173 19642983 18644402 20118626 19256749 19551842 9163691 19996281 19499222 18977376 19426721 16942905 21278145 21167192 12112319 20101389 20137499 21071580 20452335 2862719 12771043 19255062 19638242 20583210 19812893 19090486 19294768 19427195 18648771 15175105
MESH:D008113 Liver Neoplasms pirinixic acid 7.4620007298 15890375 16377806
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.0115583823 12014681
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.0118544905 3124819 19539802 17942915 16267830 18093689 19009564 18164116 18775883 21159647 18079962 16842330 19519916 9362446 2563599 19004024 18282651 19126423 17854601 18308698 17174075 18253720
MESH:D008171 Lung Diseases Ozone 3.3919066396 8266340
MESH:D055370 Lung Injury Ozone 3.8920417186
MESH:D008175 Lung Neoplasms Diethylnitrosamine 3.6220512841 20970405 6695378 21163286
MESH:D008175 Lung Neoplasms Ethylnitrosourea 3.6216019985 16271038 17703301 6695378
MESH:D008175 Lung Neoplasms Ozone 3.627614698 8597069
MESH:D008223 Lymphoma Ethylnitrosourea 3.9615790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.0915375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 3.5310767621 10838139 18041768
MESH:D008527 Medulloblastoma Tretinoin 2.7917453147
MESH:D008545 Melanoma Tretinoin 1.9516752155
MESH:D008579 Meningioma Ethylnitrosourea 6.0517943659
MESH:D008591 Meningomyelocele Tretinoin 4.4716940565
MESH:D001523 Mental Disorders Clozapine 8.5316856516
MESH:D001523 Mental Disorders Haloperidol 8.5316856516
MESH:D024821 Metabolic Syndrome X Clozapine 4.4319142101
MESH:D008679 Metaplasia Ozone 5.1710496685
OMIM:141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1 marker/mechanism
MESH:D009135 Muscular Diseases pirinixic acid 3.5516239165
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.0917596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1519151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9716411023
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.583581430 9029167
MESH:D009369 Neoplasms pirinixic acid 4.9517405874
MESH:D009369 Neoplasms Tretinoin 4.9516594593 16946489
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.4416707424
MESH:D009421 Nervous System Malformations Tretinoin 3.819125849
MESH:D009436 Neural Tube Defects Tretinoin 3.079142499
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.4717160924 16003739 16651423
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.3620387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.1820387270
MESH:D009765 Obesity Clozapine 4.7219142110 18515891
MESH:D009765 Obesity pirinixic acid 4.7220558911
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.0517160924
MESH:D010024 Osteoporosis Calcium 3.8017882678
MESH:D010051 Ovarian Neoplasms Tretinoin 2.3516936753
MESH:D010146 Pain Tretinoin 2.9216870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 5.2816540662
MESH:D010190 Pancreatic Neoplasms Tretinoin 5.2815976015
MESH:D010538 Peritonitis Ozone 4.1716369182
MESH:D011014 Pneumonia Ozone 4.4418007984 18929643 18381685
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.582563599
MESH:D011507 Proteinuria Tretinoin 3.6416636307
MESH:D011595 Psychomotor Agitation Haloperidol 5.0011575062
MESH:D011618 Psychotic Disorders Clozapine 9.2215331141
MESH:D011618 Psychotic Disorders Haloperidol 9.2211575062
MESH:D011625 Pterygium Tretinoin 4.8416723453
MESH:D015427 Reperfusion Injury pirinixic acid 2.4019058328
MESH:D012120 Respiration Disorders Chlorine 5.2718579056
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.1316116481 16283617
MESH:D012559 Schizophrenia Clozapine 4.1111763009 11151749 16141801 17123785 18855531 20521320 20580759 20452607 17726453 19369910 20107430 18806925 20521326 17667964 20168265
MESH:D012559 Schizophrenia Haloperidol 4.1120107430 19369910 1830565 18513383
MESH:D012878 Skin Neoplasms Tretinoin 2.6216467112
MESH:D020754 Spinocerebellar Ataxias marker/mechanism
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.4218456281
MESH:D013274 Stomach Neoplasms Tretinoin 2.4217261132
MESH:D017180 Tachycardia, Ventricular Haloperidol 4.7420210726
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.2115790496
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 7.247505956
MESH:D013964 Thyroid Neoplasms Tretinoin 7.2417045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 3.8116051514
MESH:D014376 Tuberculosis Tretinoin 3.2416040207
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.7016129372
MESH:D014604 Uveal Neoplasms Tretinoin 4.6716752155
MESH:D014820 Vitiligo Tretinoin 4.0916761959
MESH:D015430 Weight Gain Clozapine 4.4916141801 20107430 16402076 17502770 20564506 20521320
MESH:D015431 Weight Loss Clozapine 5.1317933447
MESH:D009396 Wilms Tumor Tretinoin 3.9916287080
Pathway ID Pathway Name
KEGG:04020 Calcium signaling pathway
REACT:15380 Diabetes pathways
KEGG:04724 Glutamatergic synapse
REACT:1505 Integration of energy metabolism
KEGG:04730 Long-term depression
KEGG:04010 MAPK signaling pathway
REACT:13685 Synaptic Transmission
KEGG:04742 Taste transduction
KEGG:04930 Type II diabetes mellitus
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26007
    • Releated gene ID Related gene Name
    PA26007CACNA1A
    Releated disease ID Related disease Name
    PA444552Hypertension
    PA444949Migraine without Aura
    Releated drug ID Related drug Name
    PA10407calcium channel blockers
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00230 antagonist Pregabalin Anticonvulsants;Analgesics
    DB00661 blocker Tarka Vasodilator Agents;Antiarrhythmic Agents;Calcium Channel Blockers;Anti-Arrhythmia Agents
    DB00836 antagonist Loperamide Antidiarrheals
    DB01244 antagonist Bepridil Antihypertensive Agents;Vasodilator Agents;Antiarrhythmic Agents;Calcium Channel Blockers;Anti-Arrhythmia Agents
    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


    Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved