AutismKB 2.0

Annotation Detail for CACNA2D2


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Basic Information Top
Gene Symbol:CACNA2D2 ( CACNA2D,KIAA0558,LUAC11.1 )
Gene Full Name: calcium channel, voltage-dependent, alpha 2/delta subunit 2
Band: 3p21.31
Quick LinksEntrez ID:9254; OMIM: 607082; Uniprot ID:CA2D2_HUMAN; ENSEMBL ID: ENSG00000007402; HGNC ID: 1400
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04010MAPK signaling pathway
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414Dilated cardiomyopathy
hsa04260Cardiac muscle contraction
Pathway IDPathway Name
Synaptic Transmission
Diabetes pathways
Integration of energy metabolism
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1772Peptic ulcer
2066Lung cancer
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of CACNA2D2 mRNAincreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of CACNA2D2 mRNAaffects expression 17562736
C006632 arsenic trioxide arsenic trioxide results in increased expression of CACNA2D2 mRNAincreases expression 15761015
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of CACNA2D2 geneincreases mutagenesis 16724327
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma arsenic trioxide 2.3611798837 19825857
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 7.683712494
MESH:D000236 Adenoma Ethylnitrosourea 7.686695378
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.7411289319 1440618
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 4.1016206674
MESH:D001927 Brain Diseases Ethylnitrosourea 5.2814991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.6816651633 16436596 16357521 18412241 15144691
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.7911589617
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.807296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.803084413
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 4.8014691202 16217749 11135700 15073043 15553829
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.6019014326
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.837296757
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.5112490120
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.897505956
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 7.8916003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.7117160924
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.449022650 19486331
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D023903 Coronary Restenosis arsenic trioxide 4.6912609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 1.8910525206
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.5615213294
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.352524372 11906362 14531868 12868966 11298694 8156756 8970840 18759878
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.952952479 3621924
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.029328219 11289319 1440618 16192314 6679447 7440962 18692083 9022650 8291058 9653073 18289764 6482804 18648102
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.022444490 16081117 19923254 11421492 18713872 19370779 19420014 12958197 19164858 16393943 12594235 15968718 12392966 16177239 10663392 16227642 15619225 16109766 12153990 14725611 11739529 10774834 11743745 17522070 14550746 11461765 11529661 18071297 19739265 16485898 11287661 17562736 12540782 14986274 17906064 19416960 10915739 19085960 12705907 11834606 16781746
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.7118357618
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.743581430
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.7412903497
MESH:D005234 Fatty Liver arsenic trioxide 3.7115073043
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.746705139
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.7716904648
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D005909 Glioblastoma Ethylnitrosourea 4.0716436596
MESH:D005910 Glioma Ethylnitrosourea 3.6216357521 16651633 18412241
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.507505956
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.026705139
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5015034207
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.748074119 9022650
MESH:D007674 Kidney Diseases Acetaminophen 2.4015629191 12587719
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 8.876582329
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 8.8717379185
MESH:D007938 Leukemia arsenic trioxide 3.0015070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.2212560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.9416972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.7214633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.1919077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1920471514 16968895 16467208 17050201 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.4615336539 17217047 16112521 12679006 19035177 15622746 11468182 12018890 17712046 16966277 16331271 19225113 17107899 11161223 12712474 15213294 15748426 17649720 16330433 16891316 9834237 17869043 19075265 16823087 19642359
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.8616882451
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.429327722 15034207
MESH:D008107 Liver Diseases Acetaminophen 1.7016610002 12969438 11587558 19014921 12587719 19460945 16611625 19784758
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6316871587 17185352
MESH:D008113 Liver Neoplasms arsenic trioxide 2.4614682389
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.73598648 1399818 6587162 3712494
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.7320377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.6615213294
MESH:D008175 Lung Neoplasms arsenic trioxide 2.8911798837 19825857
MESH:D008175 Lung Neoplasms Ethylnitrosourea 2.896695378 17703301 16019985 16271038
MESH:D008223 Lymphoma Ethylnitrosourea 4.2215790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.6115375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 3.7410767621 10838139 18041768
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D008579 Meningioma Ethylnitrosourea 6.7117943659
MESH:D009101 Multiple Myeloma arsenic trioxide 3.3819417148 11468182 14977855 15949261 19549372
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.4018349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.3416105982 16882451
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.4716624393
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.593581430
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.9616707424
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 8.066679447
MESH:D009436 Neural Tube Defects arsenic trioxide 8.0610525206
MESH:D009442 Neurilemmoma Ethylnitrosourea 6.0516003739 16651423 17160924
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.816482804 4026338
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.7117160924
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.743988306
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.5012452020 16624393 19769630
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.6315580305
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.047296757
MESH:D010235 Paraganglioma arsenic trioxide 4.6319927285
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.196228378
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.2119131511
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.673692021
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.4716646077
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.7915790496
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 8.197505956 6582329 3712494 1399818 6587162
MESH:D013964 Thyroid Neoplasms arsenic trioxide 8.1919014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.5915213294
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.508074119
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.5011780464 12973940 12845720 20435036
MESH:D014581 Urticaria Acetaminophen 3.4410982225
Pathway ID Pathway Name
KEGG:05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
KEGG:04260 Cardiac muscle contraction
REACT:15380 Diabetes pathways
KEGG:05414 Dilated cardiomyopathy
KEGG:05410 Hypertrophic cardiomyopathy (HCM)
REACT:1505 Integration of energy metabolism
KEGG:04010 MAPK signaling pathway
REACT:13685 Synaptic Transmission
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00270 blocker Isradipine Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
DB00996 antagonist Gabapentin Anti-anxiety Agents;Anticonvulsants;Antiparkinson Agents;Analgesics;Calcium Channel Blockers;Antimanic Agents;Excitatory Amino Acid Antagonists
DB01023 antagonist Lexxel Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers;Dihydropyridines
DB01054 antagonist Nitrendipine Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
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
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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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