AutismKB 2.0

Annotation Detail for CACNA1H


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CACNA1H ( CACNA1HB,Cav3.2,ECA6,EIG6,FLJ90484 )
Gene Full Name: calcium channel, voltage-dependent, T type, alpha 1H subunit
Band: 16p13.3
Quick LinksEntrez ID:8912; OMIM: 607904; Uniprot ID:CAC1H_HUMAN; ENSEMBL ID: ENSG00000196557; HGNC ID: 1395
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04010MAPK signaling pathway
hsa04020Calcium signaling pathway
Pathway IDPathway Name
Axon guidance
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1799Epilepsy
1831Prostate cancer
1944Breast cancer
1975Congenital heart disease
Desease Name
epilepsy
childhood absence epilepsy.
No data
Desease Name
Epilepsy, idiopathic generalized, susceptibility to, 6
Epilepsy, childhood absence, susceptibility to, 6
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000584 Amiloride Amiloride inhibits the reaction [CACNA1H protein results in increased transport of Calcium]decreases reaction|increases transport 9930755
D000584 Amiloride Amiloride inhibits the reaction [CACNA1H protein results in increased transport of Calcium]decreases reaction|increases transport 11897840
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CACNA1H mRNAaffects expression 16483693
D001464 Barium CACNA1H mRNA alternative form results in increased transport of Bariumincreases transport 11179973
C055494 caffeic acid phenethyl ester [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of CACNA1H mRNAaffects cotreatment|decreases expression 20360939
D002118 Calcium Amiloride inhibits the reaction [CACNA1H protein results in increased transport of Calcium]decreases reaction|increases transport 9930755
D002118 Calcium CACNA1H protein results in increased transport of Calciumincreases transport 9930755
D002118 Calcium Mibefradil inhibits the reaction [CACNA1H protein results in increased transport of Calcium]decreases reaction|increases transport 9930755
D002118 Calcium Nickel inhibits the reaction [CACNA1H protein results in increased transport of Calcium]decreases reaction|increases transport 9930755
D002118 Calcium Amiloride inhibits the reaction [CACNA1H protein results in increased transport of Calcium]decreases reaction|increases transport 11897840
D002118 Calcium CACNA1H protein results in increased transport of Calciumincreases transport 11897840
D002118 Calcium Nickel inhibits the reaction [CACNA1H protein results in increased transport of Calcium]decreases reaction|increases transport 11897840
D002118 Calcium CACNA1H protein results in increased transport of Calciumincreases transport 11073957
D003609 Dactinomycin Dactinomycin inhibits the reaction [AGT protein results in increased expression of CACNA1H mRNA]decreases reaction|increases expression 19292980
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of CACNA1H mRNAaffects cotreatment|decreases expression 20360939
D005576 Forskolin Mibefradil inhibits the reaction [[Forskolin co-treated with 1-Methyl-3-isobutylxanthine] results in increased activity of CACNA1H protein]affects cotreatment|decreases reaction|increases activity 17110049
D005576 Forskolin Nickel inhibits the reaction [[Forskolin co-treated with 1-Methyl-3-isobutylxanthine] results in increased activity of CACNA1H protein]affects cotreatment|decreases reaction|increases activity 17110049
C020754 herbimycin herbimycin results in increased activity of CACNA1H proteinincreases activity 18309285
D015056 1-Methyl-3-isobutylxanthine Mibefradil inhibits the reaction [[Forskolin co-treated with 1-Methyl-3-isobutylxanthine] results in increased activity of CACNA1H protein]affects cotreatment|decreases reaction|increases activity 17110049
D015056 1-Methyl-3-isobutylxanthine Nickel inhibits the reaction [[Forskolin co-treated with 1-Methyl-3-isobutylxanthine] results in increased activity of CACNA1H protein]affects cotreatment|decreases reaction|increases activity 17110049
D020748 Mibefradil Mibefradil inhibits the reaction [CACNA1H protein results in increased transport of Calcium]decreases reaction|increases transport 9930755
D020748 Mibefradil Mibefradil inhibits the reaction [[Forskolin co-treated with 1-Methyl-3-isobutylxanthine] results in increased activity of CACNA1H protein]affects cotreatment|decreases reaction|increases activity 17110049
D009532 Nickel Nickel inhibits the reaction [CACNA1H protein results in increased transport of Calcium]decreases reaction|increases transport 9930755
D009532 Nickel Nickel inhibits the reaction [CACNA1H protein results in increased transport of Calcium]decreases reaction|increases transport 11897840
D009532 Nickel Nickel inhibits the reaction [[Forskolin co-treated with 1-Methyl-3-isobutylxanthine] results in increased activity of CACNA1H protein]affects cotreatment|decreases reaction|increases activity 17110049
C029341 oxophenylarsine oxophenylarsine results in decreased activity of CACNA1H proteindecreases activity 18309285
C093973 PD 98059 PD 98059 inhibits the reaction [telmisartan results in decreased expression of CACNA1H mRNA]decreases expression|decreases reaction 19292980
C093642 SB 203580 SB 203580 inhibits the reaction [telmisartan results in decreased expression of CACNA1H mRNA]decreases expression|decreases reaction 19292980
C084178 telmisartan PD 98059 inhibits the reaction [telmisartan results in decreased expression of CACNA1H mRNA]decreases expression|decreases reaction 19292980
C084178 telmisartan SB 203580 inhibits the reaction [telmisartan results in decreased expression of CACNA1H mRNA]decreases expression|decreases reaction 19292980
C084178 telmisartan telmisartan inhibits the reaction [AGT protein results in increased expression of CACNA1H mRNA]decreases reaction|increases expression 19292980
C084178 telmisartan telmisartan results in decreased expression of CACNA1H mRNAdecreases expression 19292980
C060152 tyrphostin 47 tyrphostin 47 results in increased activity of CACNA1H proteinincreases activity 18309285
D015032 Zinc Zinc results in decreased activity of CACNA1H proteindecreases activity 16410023
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.5218287403
MESH:D000169 Acrodermatitis Zinc 5.3717190629 16889938 17202136
MESH:D055371 Acute Lung Injury Nickel 4.5416166738
MESH:D000236 Adenoma Diethylnitrosamine 2.826695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 3.8617620307 19061943 17162532 16434500 18056438 19052882
MESH:D000544 Alzheimer Disease Zinc 2.7517119284 16325427 16410023 16580781
MESH:D000755 Anemia, Sickle Cell Zinc 4.8616916123
MESH:D001249 Asthma Zinc 2.9417085522
MESH:D001321 Autistic Disorder marker/mechanism 16754686
MESH:D019046 Bone Marrow Neoplasms Dactinomycin 5.5114601052
MESH:D001930 Brain Injuries Zinc 4.6517109824
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.5517474063
MESH:D001943 Breast Neoplasms Nickel 2.5515986119
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 1.8417428255 19701751 16681979 18506893 18691550 16698587 19394651 19539802 18056438 17055752 20432363 18788625 18494052 19171122 19519916 20514400 19383236 17138121 19107877 16569478 20101231 16540662 20524982 16935385 17162532 18978308 20007298 16878318 16807293 19208518 20935162 16502159 20512989 19919837 19418558 16328049 11831363 20727157 10737359 10672840 18665156 20214788 18785209 17978847 18971187 16830150 20084675 18393292 16779866 19335982 21159647 3581430 19052882 18210153 19822196 3084413 17173139 16288022 17761372
MESH:D002294 Carcinoma, Squamous Cell Zinc 2.8916543248
MESH:D002295 Carcinoma, Transitional Cell Amiloride 5.0414644129
MESH:D002318 Cardiovascular Diseases Zinc 3.6316936243
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 2.8321159647 2727394 7505956 17174075
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.6519052882
MESH:D003092 Colitis Amiloride 5.0712065299
MESH:D019465 Craniofacial Abnormalities Zinc 2.4319302082
MESH:D017449 Dermatitis, Allergic Contact Nickel 3.9119470301 17100760 17244072
MESH:D003877 Dermatitis, Contact Nickel 4.592952479
MESH:D003920 Diabetes Mellitus Zinc 4.1616479319
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.1820387270
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 2.0519107877
MESH:D004832 Epilepsy, Absence marker/mechanism
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.0916302075
MESH:D004938 Esophageal Neoplasms Zinc 2.8516543248
MESH:D005234 Fatty Liver Diethylnitrosamine 3.1521071580 20387270
MESH:D005756 Gastritis Zinc 4.7717241300
MESH:D006130 Growth Disorders Amiloride 8.9319703807
MESH:D006130 Growth Disorders Zinc 8.9317217573
MESH:D006333 Heart Failure Zinc 3.5817162251
MESH:D006335 Heart Injuries Zinc 5.7417074742
MESH:D016481 Helicobacter Infections Zinc 4.4917241300
MESH:D006527 Hepatolenticular Degeneration Zinc 4.6517276780
MESH:D015658 HIV Infections Nickel 3.7917263646
MESH:D006973 Hypertension Amiloride 6.4918524855 19344079 15174897
MESH:D006973 Hypertension telmisartan 6.4916077267
MESH:D020514 Hypokalemic Periodic Paralysis Amiloride 5.8119822448
MESH:D007077 Ileal Diseases 1-Methyl-3-isobutylxanthine 5.4118306037
MESH:D007249 Inflammation Amiloride 8.5517237260
MESH:D007249 Inflammation Diethylnitrosamine 8.5518785209
MESH:D007249 Inflammation Nickel 8.5516166738
MESH:D007414 Intestinal Neoplasms caffeic acid phenethyl ester 4.5510783313
MESH:D007511 Ischemia Zinc 4.5916584753
MESH:D007579 Jejunal Diseases 1-Methyl-3-isobutylxanthine 5.4118306037
MESH:D007674 Kidney Diseases caffeic acid phenethyl ester 6.5715369732
MESH:D007674 Kidney Diseases Zinc 6.5716960431
MESH:D007676 Kidney Failure, Chronic Zinc 4.3816518626
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 5.0216316344
MESH:D007948 Leukemia, Monocytic, Acute PD 98059 5.1916972261
MESH:D015473 Leukemia, Promyelocytic, Acute caffeic acid phenethyl ester 3.9616766008
MESH:D056929 Liddle Syndrome Amiloride 5.9319344079
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.8019638242 18407596 18522880 20032147 18665156
MESH:D008107 Liver Diseases Diethylnitrosamine 2.0917034775
MESH:D008113 Liver Neoplasms Diethylnitrosamine 2.2219255062 9163691 19294768 19427195 21167192 20405173 20101389 15885732 21278145 10737359 20583210 20492335 21071580 18978307 19254457 20118626 19638242 20501860 12112319 16942905 19996281 19551842 19426721 19850985 18648771 20434301 15175105 19090486 19642983 19256749 2862719 2422723 19690152 19812893 18977376 20137499 19499222 18644402 20452335 12771043 19833225 19073162 18754104 21047994
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 2.6019519916 3124819 9362446 18775883 18308698 18093689 19009564 18544905 19539802 18079962 18282651 17942915 16267830 18253720 16842330 19004024 18164116 19126423 21159647 17174075 2563599 17854601
MESH:D008175 Lung Neoplasms Diethylnitrosamine 1.766695378 20970405 21163286 20512841
MESH:D008325 Mammary Neoplasms, Experimental Zinc 3.2712773700
MESH:D009361 Neoplasm Invasiveness Amiloride 5.2614644129
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.553581430 9029167
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.3020387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.0920387270
MESH:D010024 Osteoporosis Calcium 3.7517882678
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4116540662
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.512563599
MESH:D011225 Pre-Eclampsia Zinc 4.1417114810
MESH:D011471 Prostatic Neoplasms Zinc 3.8412429649 16606632 16700911 16517595
MESH:D011507 Proteinuria telmisartan 5.5616077267
MESH:D012162 Retinal Degeneration Zinc 4.0916584753
MESH:D012512 Sarcoma, Ewing's Dactinomycin 5.0414601052
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7518456281
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 2.957505956
MESH:D014062 Tongue Neoplasms Zinc 4.3616543248
Pathway ID Pathway Name
REACT:18266 Axon guidance
KEGG:04020 Calcium signaling pathway
KEGG:04010 MAPK signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA380
    • No data
    Releated disease ID Related disease Name
    PA444552Hypertension
    Releated drug ID Related drug Name
    PA452249antiarrhythmics, class i and iii
    PA450492mibefradil
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00270 blocker Isradipine Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
    DB00568 antagonist Cinnarizine Calcium Channel Blockers;Anti-Allergic Agents;Histamine H1 Antagonists
    DB00909 antagonist Zonisamide Antioxidants;Anticonvulsants
    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
    DB01118 antagonist Amiodarone Vasodilator Agents;Enzyme Inhibitors;Anti-Arrhythmia Agents
    DB01244 antagonist Bepridil Antihypertensive Agents;Vasodilator Agents;Antiarrhythmic Agents;Calcium Channel Blockers;Anti-Arrhythmia Agents
    DB01388 antagonist Mibefradil Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
    DB04841 blocker Flunarizine Anticonvulsants;Vasodilator Agents;Calcium Channel Blockers;Histamine H1 Antagonists
    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