AutismKB 2.0

Annotation Detail for CACNA1B


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Basic Information Top
Gene Symbol:CACNA1B ( BIII,CACNL1A5,CACNN,Cav2.2 )
Gene Full Name: calcium channel, voltage-dependent, N type, alpha 1B subunit
Band: 9q34.3
Quick LinksEntrez ID:774; OMIM: 601012; Uniprot ID:CAC1B_HUMAN; ENSEMBL ID: ENSG00000148408; HGNC ID: 1389
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04010MAPK signaling pathway
hsa04020Calcium signaling pathway
hsa04742Taste transduction
hsa04930Type II diabetes mellitus
Pathway IDPathway Name
Synaptic Transmission
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
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of CACNA1B mRNAincreases expression 16788091
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CACNA1B mRNAaffects expression 16483693
D001464 Barium CACNA1B gene polymorphism affects the transport of Bariumaffects transport 11756491
D001464 Barium CACNA1B protein results in increased transport of Bariumincreases transport 14559144
11756491
11007869
D001464 Barium Cadmium Chloride inhibits the reaction [CACNA1B protein results in increased transport of Barium]decreases reaction|increases transport 14559144
D001464 Barium [GNB1 protein binds to GNG2 protein] inhibits the reaction [CACNA1B protein results in increased transport of Barium]affects binding|decreases reaction|increases transport 11007869
D001464 Barium [GNB1 protein binds to GNG3 protein] inhibits the reaction [CACNA1B protein results in increased transport of Barium]affects binding|decreases reaction|increases transport 11007869
D001464 Barium [GNB1 protein binds to GNGT1 protein] inhibits the reaction [CACNA1B protein results in increased transport of Barium]affects binding|decreases reaction|increases transport 11007869
D001464 Barium [GNB2 protein binds to GNG2 protein] inhibits the reaction [CACNA1B protein results in increased transport of Barium]affects binding|decreases reaction|increases transport 11007869
D001464 Barium [GNB2 protein binds to GNG3 protein] inhibits the reaction [CACNA1B protein results in increased transport of Barium]affects binding|decreases reaction|increases transport 11007869
D001464 Barium [GNB2 protein binds to GNGT1 protein] inhibits the reaction [CACNA1B protein results in increased transport of Barium]affects binding|decreases reaction|increases transport 11007869
D001464 Barium [GNB3 protein binds to GNG2 protein] inhibits the reaction [CACNA1B protein results in increased transport of Barium]affects binding|decreases reaction|increases transport 11007869
D001464 Barium [GNB3 protein binds to GNG3 protein] inhibits the reaction [CACNA1B protein results in increased transport of Barium]affects binding|decreases reaction|increases transport 11007869
D001464 Barium [GNB3 protein binds to GNGT1 protein] inhibits the reaction [CACNA1B protein results in increased transport of Barium]affects binding|decreases reaction|increases transport 11007869
D001464 Barium [GNB4 protein binds to GNG2 protein] inhibits the reaction [CACNA1B protein results in increased transport of Barium]affects binding|decreases reaction|increases transport 11007869
D001464 Barium [GNB4 protein binds to GNG3 protein] inhibits the reaction [CACNA1B protein results in increased transport of Barium]affects binding|decreases reaction|increases transport 11007869
D001464 Barium [GNB4 protein binds to GNGT1 protein] inhibits the reaction [CACNA1B protein results in increased transport of Barium]affects binding|decreases reaction|increases transport 11007869
D001464 Barium [GNB5 protein binds to GNG2 protein] inhibits the reaction [CACNA1B protein results in increased transport of Barium]affects binding|decreases reaction|increases transport 11007869
D019256 Cadmium Chloride Cadmium Chloride inhibits the reaction [CACNA1B protein results in increased transport of Barium]decreases reaction|increases transport 14559144
D002118 Calcium CACNA1B protein results in increased transport of Calciumincreases transport 18383452
D002118 Calcium decamethrin inhibits the reaction [CACNA1B protein results in increased transport of Calcium]decreases reaction|increases transport 18383452
D002118 Calcium decamethrin promotes the reaction [CACNA1B gene mutant form results in increased transport of Calcium]increases reaction|increases transport 18383452
D002713 Chlorine [Ozone co-treated with Chlorine] results in increased expression of CACNA1B mRNAaffects cotreatment|increases expression 18636392
C017180 decamethrin decamethrin inhibits the reaction [CACNA1B protein results in increased transport of Calcium]decreases reaction|increases transport 18383452
C017180 decamethrin decamethrin promotes the reaction [CACNA1B gene mutant form results in increased transport of Calcium]increases reaction|increases transport 18383452
C017180 decamethrin decamethrin results in decreased activity of CACNA1B proteindecreases activity 18383452
C017180 decamethrin decamethrin results in decreased activity of CACNA1B protein mutant formdecreases activity 18383452
D004958 Estradiol Estradiol results in increased expression of CACNA1B mRNAincreases expression 17962382
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in increased expression of CACNA1B mRNAincreases expression 17616710
D010126 Ozone [Ozone co-treated with Chlorine] results in increased expression of CACNA1B mRNAaffects cotreatment|increases expression 18636392
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D055371 Acute Lung Injury Chlorine 4.5120601635
MESH:D000230 Adenocarcinoma Estradiol 2.1311473722
MESH:D000544 Alzheimer Disease Ozone 2.4715513908
MESH:D001172 Arthritis, Rheumatoid Ozone 2.5915570426
MESH:D001249 Asthma Ozone 2.6817854713 16373670
MESH:D001943 Breast Neoplasms Estradiol 2.1317289903 18497071 17261762 17018787 19861407 12948864 16675129 14630087
MESH:D016535 Bronchial Hyperreactivity Ozone 3.8118315731 15516495 19059883 16777450 14754758 18417511 17626835
MESH:D002100 Cachexia Ozone 4.9816183385
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.7016111702
MESH:D006528 Carcinoma, Hepatocellular Estradiol 1.7716924424
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.8818566989
MESH:D019465 Craniofacial Abnormalities decamethrin 3.1519861644
MESH:D003928 Diabetic Nephropathies Estradiol 3.5619279558
MESH:D004417 Dyspnea Chlorine 4.8920016425
MESH:D016889 Endometrial Neoplasms Estradiol 3.0918566989 11473722 19148513
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.8115264214 16805852 15878914 15547733 16704527 15150132 15547721 15623463 16510608
MESH:D005739 Gas Poisoning Chlorine 5.2720016425
MESH:D006558 Herpes Genitalis Estradiol 5.3015709030
MESH:D019584 Hot Flashes Estradiol 4.0217088409
MESH:D007299 Insect Bites and Stings decamethrin 6.0615189238
MESH:D007333 Insulin Resistance Estradiol 3.0716627594 16393666
MESH:D007674 Kidney Diseases Cadmium Chloride 6.6616962696
MESH:D007674 Kidney Diseases Estradiol 6.6615618244
MESH:D007680 Kidney Neoplasms Estradiol 3.1215610895
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 5.3116316344
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 1.6814716833 14659978
MESH:D008171 Lung Diseases Ozone 3.4919066396 8266340
MESH:D055370 Lung Injury Ozone 4.0620417186
MESH:D008175 Lung Neoplasms Ozone 2.108597069 7614698
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.6616891317 11408345 11807958 17203775
MESH:D020149 Manganese Poisoning Estradiol 4.7519453300
MESH:D008679 Metaplasia Ozone 5.3710496685
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.4116810080
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9717289903
MESH:D009421 Nervous System Malformations Estradiol 3.8516427766 11399458
MESH:D010024 Osteoporosis Calcium 3.8817882678
MESH:D010051 Ovarian Neoplasms Estradiol 2.2619401270
MESH:D010538 Peritonitis Ozone 4.3516369182
MESH:D011014 Pneumonia Ozone 4.6318007984 18929643 18381685
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0620887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.0516740699
MESH:D012120 Respiration Disorders Chlorine 5.4818579056
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.3312958204 17575124
MESH:D013978 Tibial Fractures Estradiol 4.9519048282
Pathway ID Pathway Name
KEGG:04020 Calcium signaling pathway
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:PA26008
    • Releated gene ID Related gene Name
    PA26008CACNA1B
    No data
    Releated drug ID Related drug Name
    PA10407calcium channel blockers
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00381 antagonist Lotrel Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers;Antianginals
    DB00661 blocker Tarka Vasodilator Agents;Antiarrhythmic Agents;Calcium Channel Blockers;Anti-Arrhythmia Agents
    DB00996 antagonist Gabapentin Anti-anxiety Agents;Anticonvulsants;Antiparkinson Agents;Analgesics;Calcium Channel Blockers;Antimanic Agents;Excitatory Amino Acid Antagonists
    DB01202 antagonist Levetiracetam Anticonvulsants;Nootropic 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


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