AutismKB 2.0

Annotation Detail for CACNA1E


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Basic Information Top
Gene Symbol:CACNA1E ( BII,CACH6,CACNL1A6,Cav2.3 )
Gene Full Name: calcium channel, voltage-dependent, R type, alpha 1E subunit
Band: 1q25.3
Quick LinksEntrez ID:777; OMIM: 601013; Uniprot ID:CAC1E_HUMAN; ENSEMBL ID: ENSG00000198216; HGNC ID: 1392
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04010MAPK signaling pathway
hsa04020Calcium signaling pathway
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
P00037Ionotropic glutamate receptor pathway
P00040Metabotropic glutamate receptor group II pathway
P00027Heterotrimeric G-protein signaling pathway-Gq alpha and Go alpha mediated pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1904Diabetes mellitus
2120Rabies
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C025603 1,2-bis(2-aminophenoxy)ethane-N,N,N',N'-tetraacetic acid 1,2-bis(2-aminophenoxy)ethane-N,N,N',N'-tetraacetic acid affects the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|increases transport 12663092
C060229 1-(6-((3-methoxyestra-1,3,5(10)-trien-17-yl)amino)hexyl)-1H-pyrrole-2,5-dione 1-(6-((3-methoxyestra-1,3,5(10)-trien-17-yl)amino)hexyl)-1H-pyrrole-2,5-dione inhibits the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|decreases reaction|increases transport 12663092
C020922 4-O-methyl-12-O-tetradecanoylphorbol 13-acetate 4-O-methyl-12-O-tetradecanoylphorbol 13-acetate affects the reaction [CACNA1E protein results in increased transport of Barium]affects reaction|increases transport 12663092
C020922 4-O-methyl-12-O-tetradecanoylphorbol 13-acetate Ro 31-8425 inhibits the reaction [4-O-methyl-12-O-tetradecanoylphorbol 13-acetate affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|decreases reaction|increases transport 12663092
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CACNA1E mRNAaffects expression 16483693
D001285 Atropine Atropine inhibits the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|decreases reaction|increases transport 12663092
D001464 Barium CACNA1E mRNA alternative form results in increased transport of Bariumincreases transport 11179973
D001464 Barium CACNA1E protein affects the transport of Bariumaffects transport 15245474
D001464 Barium CACNA1E protein results in increased transport of Bariumincreases transport 10669483
D001464 Barium SNX 482 inhibits the reaction [CACNA1E mRNA alternative form results in increased transport of Barium]decreases reaction|increases transport 11179973
D001464 Barium CACNA1E protein results in increased transport of Bariumincreases transport 11102459
D001464 Barium SNX 482 inhibits the reaction [CACNA1E protein results in increased transport of Barium]decreases reaction|increases transport 11102459
D001464 Barium 1,2-bis(2-aminophenoxy)ethane-N,N,N',N'-tetraacetic acid affects the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|increases transport 12663092
D001464 Barium 1-(6-((3-methoxyestra-1,3,5(10)-trien-17-yl)amino)hexyl)-1H-pyrrole-2,5-dione inhibits the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|decreases reaction|increases transport 12663092
D001464 Barium 4-O-methyl-12-O-tetradecanoylphorbol 13-acetate affects the reaction [CACNA1E protein results in increased transport of Barium]affects reaction|increases transport 12663092
D001464 Barium Atropine inhibits the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|decreases reaction|increases transport 12663092
D001464 Barium CACNA1E protein results in increased transport of Bariumincreases transport 11179973
10627594
12663092
D001464 Barium Calcium inhibits the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|decreases reaction|increases transport 12663092
D001464 Barium Heparin affects the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|increases transport 12663092
D001464 Barium Isradipine inhibits the reaction [CACNA1E protein results in increased transport of Barium]decreases reaction|increases transport 11179973
D001464 Barium Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]affects reaction|increases transport 12663092
D001464 Barium Nickel inhibits the reaction [CACNA1E protein results in increased transport of Barium]decreases reaction|increases transport 10627594
D001464 Barium omega-conotoxin-MVIIC promotes the reaction [Isradipine inhibits the reaction [CACNA1E protein results in increased transport of Barium]]decreases reaction|increases reaction|increases transport 11179973
D001464 Barium Ro 31-8425 inhibits the reaction [4-O-methyl-12-O-tetradecanoylphorbol 13-acetate affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|decreases reaction|increases transport 12663092
D001464 Barium Ro 31-8425 inhibits the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|decreases reaction|increases transport 12663092
D001464 Barium SNX 482 inhibits the reaction [CACNA1E protein results in increased transport of Barium]decreases reaction|increases transport 11179973
10627594
D002104 Cadmium Cadmium inhibits the reaction [CACNA1E protein results in increased transport of Calcium]decreases reaction|increases transport 10669483
D002118 Calcium CACNA1E protein results in increased transport of Calciumincreases transport 10669483
D002118 Calcium Cadmium inhibits the reaction [CACNA1E protein results in increased transport of Calcium]decreases reaction|increases transport 10669483
D002118 Calcium Nickel inhibits the reaction [CACNA1E protein results in increased transport of Calcium]decreases reaction|increases transport 10669483
D002118 Calcium CACNA1E protein results in increased transport of Calciumincreases transport 10627594
12663092
D002118 Calcium Calcium inhibits the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|decreases reaction|increases transport 12663092
D005419 Flavonoids Flavonoids results in increased expression of CACNA1E mRNAincreases expression 18035473
D006493 Heparin Heparin affects the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|increases transport 12663092
D017275 Isradipine Isradipine inhibits the reaction [CACNA1E protein results in increased transport of Barium]decreases reaction|increases transport 11179973
D017275 Isradipine omega-conotoxin-MVIIC promotes the reaction [Isradipine inhibits the reaction [CACNA1E protein results in increased transport of Barium]]decreases reaction|increases reaction|increases transport 11179973
D016210 Methacholine Chloride 1,2-bis(2-aminophenoxy)ethane-N,N,N',N'-tetraacetic acid affects the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|increases transport 12663092
D016210 Methacholine Chloride 1-(6-((3-methoxyestra-1,3,5(10)-trien-17-yl)amino)hexyl)-1H-pyrrole-2,5-dione inhibits the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|decreases reaction|increases transport 12663092
D016210 Methacholine Chloride Atropine inhibits the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|decreases reaction|increases transport 12663092
D016210 Methacholine Chloride Calcium inhibits the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|decreases reaction|increases transport 12663092
D016210 Methacholine Chloride Heparin affects the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|increases transport 12663092
D016210 Methacholine Chloride Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]affects reaction|increases transport 12663092
D016210 Methacholine Chloride Ro 31-8425 inhibits the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|decreases reaction|increases transport 12663092
D009532 Nickel Nickel inhibits the reaction [CACNA1E protein results in increased transport of Calcium]decreases reaction|increases transport 10669483
D009532 Nickel Nickel inhibits the reaction [CACNA1E protein results in increased transport of Barium]decreases reaction|increases transport 10627594
C075851 omega-conotoxin-MVIIC omega-conotoxin-MVIIC promotes the reaction [Isradipine inhibits the reaction [CACNA1E protein results in increased transport of Barium]]decreases reaction|increases reaction|increases transport 11179973
C071924 Ro 31-8425 Ro 31-8425 inhibits the reaction [4-O-methyl-12-O-tetradecanoylphorbol 13-acetate affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|decreases reaction|increases transport 12663092
C071924 Ro 31-8425 Ro 31-8425 inhibits the reaction [Methacholine Chloride affects the reaction [CACNA1E protein results in increased transport of Barium]]affects reaction|decreases reaction|increases transport 12663092
C115521 SNX 482 SNX 482 inhibits the reaction [CACNA1E mRNA alternative form results in increased transport of Barium]decreases reaction|increases transport 11179973
C115521 SNX 482 SNX 482 inhibits the reaction [CACNA1E protein results in increased transport of Barium]decreases reaction|increases transport 11102459
C115521 SNX 482 SNX 482 inhibits the reaction [CACNA1E protein results in increased transport of Barium]decreases reaction|increases transport 11179973
10627594
D012964 Sodium CACNA1E protein results in increased transport of Sodiumincreases transport 10669483
C025643 vinclozolin vinclozolin results in increased methylation of CACNA1E intronincreases methylation 16973722
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.5218287403
MESH:D055371 Acute Lung Injury Nickel 4.5416166738
MESH:D001008 Anxiety Disorders vinclozolin 3.6019015723
MESH:D050197 Atherosclerosis Cadmium 3.6115687053
MESH:D001943 Breast Neoplasms Atropine 3.2012762645
MESH:D001943 Breast Neoplasms Nickel 3.2015986119
MESH:D002471 Cell Transformation, Neoplastic Cadmium 3.6617332340
MESH:D003456 Cryptorchidism vinclozolin 4.3014966744
MESH:D017449 Dermatitis, Allergic Contact Nickel 3.9117100760 19470301 17244072
MESH:D003877 Dermatitis, Contact Nickel 4.592952479
MESH:D003967 Diarrhea Atropine 4.9110867622
MESH:D004381 Duodenal Ulcer Atropine 5.2511595415
MESH:D030342 Genetic Diseases, Inborn vinclozolin 4.9016973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.2716417039
MESH:D015658 HIV Infections Nickel 3.7917263646
MESH:D007248 Infertility, Male vinclozolin 3.0116467254
MESH:D007249 Inflammation Flavonoids 8.7117296493
MESH:D007249 Inflammation Methacholine Chloride 8.7118249437
MESH:D007249 Inflammation Nickel 8.7116166738
MESH:D007674 Kidney Diseases Cadmium 3.4816226777 16962696 16322080
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 5.0216316344
MESH:D007984 Leydig Cell Tumor vinclozolin 4.7016417039
MESH:D008106 Liver Cirrhosis, Experimental Heparin 3.5416904936
MESH:D009216 Myopia Atropine 4.9612601066
MESH:D010024 Osteoporosis Calcium 3.7517882678
MESH:D010146 Pain 1-(6-((3-methoxyestra-1,3,5(10)-trien-17-yl)amino)hexyl)-1H-pyrrole-2,5-dione 4.7718987195
MESH:D016491 Peripheral Vascular Diseases Cadmium 5.3515687053
MESH:D011041 Poisoning Atropine 5.1117849254 18072136
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 3.8618220299 19015723 18042343
MESH:D011469 Prostatic Diseases vinclozolin 4.9018220299
MESH:D011471 Prostatic Neoplasms Cadmium 4.0217075824
MESH:D011472 Prostatitis vinclozolin 4.9018629315
MESH:D012640 Seizures Atropine 4.3512660363 11218047 17157343
MESH:D012851 Sinus Thrombosis, Intracranial Heparin 6.0112269725
MESH:D013276 Stomach Ulcer Atropine 4.7011595415
MESH:D013921 Thrombocytopenia Heparin 5.4116651880 16893407
MESH:D013927 Thrombosis Heparin 5.2716893407
MESH:D014202 Tremor Atropine 5.7017594079
MESH:D014657 Vasculitis Heparin 6.0120337814
Pathway ID Pathway Name
KEGG:04020 Calcium signaling pathway
REACT:15380 Diabetes pathways
REACT:1505 Integration of energy metabolism
KEGG:04010 MAPK signaling pathway
REACT:13685 Synaptic Transmission
KEGG:04930 Type II diabetes mellitus
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26009
    • No data
    No data
    Releated drug ID Related drug Name
    PA10407calcium channel blockers
    Drug Bank Top

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    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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