AutismKB 2.0

Annotation Detail for CAV3


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Basic Information Top
Gene Symbol:CAV3 ( LGMD1C,LQT9,MGC126100,MGC126101,MGC126129,VIP-21,VIP21 )
Gene Full Name: caveolin 3
Band: 3p25.3
Quick LinksEntrez ID:859; OMIM: 601253; Uniprot ID:CAV3_HUMAN; ENSEMBL ID: ENSG00000182533; HGNC ID: 1529
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04144Endocytosis
hsa05100Bacterial invasion of epithelial cells
hsa04510Focal adhesion
No data
Pathway IDPathway Name
200140PDGFR-alpha signaling pathway
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1866Sudden infant death syndrome
1934Cancer
1982Myopathy
2092Long QT syndrome
2115Muscular dystrophies
2118Adenovirus infection
No data
No data
Desease Name
Long QT syndrome-9
Creatine phosphokinase, elevated serum
Cardiomyopathy, familial hypertrophic
Myopathy, distal, with decreased caveolin 3
Muscular dystrophy, limb-girdle, type IC
Rippling muscle disease
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of CAV3 mRNAincreases expression 18648102
D000638 Amiodarone Amiodarone results in increased expression of CAV3 mRNAincreases expression 19774075
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CAV3 mRNAaffects expression 16483693
D004281 Docosahexaenoic Acids Docosahexaenoic Acids results in increased expression of CAV3 proteinincreases expression 15560787
D004317 Doxorubicin [CAV1 protein binds to CAV3 protein] promotes the reaction [Doxorubicin results in increased activity of CASP3 protein]affects binding|increases activity|increases reaction 17982011
D015118 Eicosapentaenoic Acid Eicosapentaenoic Acid results in increased expression of CAV3 proteinincreases expression 15560787
D010656 Phenylephrine CAV3 protein inhibits the reaction [Phenylephrine results in increased expression of MYH7 protein]decreases reaction|increases expression 12847114
D010656 Phenylephrine CAV3 protein inhibits the reaction [Phenylephrine results in increased phosphorylation of MAPK1 protein]decreases reaction|increases phosphorylation 12847114
D010656 Phenylephrine CAV3 protein inhibits the reaction [Phenylephrine results in increased phosphorylation of MAPK3 protein]decreases reaction|increases phosphorylation 12847114
D010656 Phenylephrine CAV3 protein results in decreased susceptibility to Phenylephrinedecreases response to substance 12847114
C017947 sodium arsenite sodium arsenite results in increased expression of CAV3 proteinincreases expression 19072884
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of CAV3 mRNAincreases expression 16714409
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1315322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000230 Adenocarcinoma Doxorubicin 2.6117418594
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.863712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6616835633
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 5.0215276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.2216712894 17306315
MESH:D000419 Albuminuria Doxorubicin 4.7821441931
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D001145 Arrhythmias, Cardiac Amiodarone 9.8018057881 18218290 20041841
MESH:D001145 Arrhythmias, Cardiac Phenylephrine 9.8017460149
MESH:D001281 Atrial Fibrillation Amiodarone 4.0518651412 19698954
MESH:D001321 Autistic Disorder Docosahexaenoic Acids 3.1818582451
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.341440618 11289319
MESH:D001778 Blood Coagulation Disorders Amiodarone 9.7419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.7412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D019046 Bone Marrow Neoplasms Doxorubicin 5.0214601052
MESH:D001919 Bradycardia Phenylephrine 4.8315306635
MESH:D001932 Brain Neoplasms Doxorubicin 4.0017150277
MESH:D001943 Breast Neoplasms Doxorubicin 2.0918234424 16322301 16096432 15634643 18628466 17426702 15668708 15939500 18382427 16935488 16115903 15567936 11325840 16595493 16826403 15136595 15692762 18695136 17369602 19526202 17983394 16264153 15994142 15993339
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0920435547
MESH:D002276 Carcinoid Tumor Doxorubicin 5.1316051944
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.813581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Doxorubicin 4.8118059187 17876044 16234567 16023760
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 4.8115276417 17306315 16507464
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 6.837296757
MESH:D002292 Carcinoma, Renal Cell Doxorubicin 6.8316201981 1485588
MESH:D002294 Carcinoma, Squamous Cell Doxorubicin 4.986189445
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 4.9818572023
MESH:D006332 Cardiomegaly Phenylephrine 7.2317287366 17124262 16170337 15728586 11754973 11179087
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 7.2316120746 18670907 18850075
MESH:D009202 Cardiomyopathies marker/mechanism
MESH:D009202 Cardiomyopathies Doxorubicin 3.6615811867 16278810 16109756 16612575 16651473 17007740 17928571 17974986 18627295 17382496 17351982 16952015 15505089 17924179 17131338 17308081 15792986 16364871 17329180 15476868 16269455 17519947 16731534 16242529 16455267
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 6.1819225199 15710769
MESH:D002311 Cardiomyopathy, Dilated Doxorubicin 6.1816243910 17334414
OMIM:192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 marker/mechanism
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.3718974383
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.207505956
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 7.2020056578 19524636
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.3019486331 9022650
MESH:C536807 Chromosome 3, monosomy 3p25 marker/mechanism 21082655
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.188697196 16354765 12621046 15668235 15340226
MESH:D015179 Colorectal Neoplasms Doxorubicin 2.1418259882 18802399
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
OMIM:123320 CREATINE PHOSPHOKINASE, ELEVATED SERUM marker/mechanism
MESH:D003550 Cystic Fibrosis Docosahexaenoic Acids 4.8619747007
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.068970840 12868966 11298694 2524372 11906362 8156756 14531868 18759878
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.713621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 9.4518289764 1440618 11289319 9022650 18692083 16192314 9653073 8291058 6482804 9328219 18648102 7440962 6679447
MESH:D056486 Drug-Induced Liver Injury Amiodarone 9.4515265979 18218290
MESH:D056486 Drug-Induced Liver Injury Doxorubicin 9.4517416283
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.4520420201
MESH:D004362 Drug Toxicity Doxorubicin 8.6118602426
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 8.6111462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5812711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2218230668 15322242 16714409
MESH:D016889 Endometrial Neoplasms Doxorubicin 3.5817359293
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.219294722 10568697
MESH:D004719 Endomyocardial Fibrosis Doxorubicin 5.4718037988
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.153581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Amiodarone 3.7214986274
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.346705139
MESH:D018222 Fibromatosis, Aggressive Doxorubicin 4.8719069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2120067830
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.9616452187
MESH:D005909 Glioblastoma Doxorubicin 3.4717150277
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.267505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006258 Head and Neck Neoplasms Doxorubicin 3.6615692506
MESH:D006330 Heart Defects, Congenital marker/mechanism 21082655
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4310048152 11294989
MESH:D006331 Heart Diseases Doxorubicin 3.6212587719 17875725 17888722 16879835 16707910 18006777 18674790 16244372 16330681 14766674 16144979 16495754 16244371
MESH:D006333 Heart Failure Doxorubicin 3.4617481944
MESH:D006394 Hemangiosarcoma Doxorubicin 4.1115692506
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.756705139
MESH:D006529 Hepatomegaly Amiodarone 9.4115265979
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.4116120746 15340226 12621046
MESH:D006689 Hodgkin Disease Doxorubicin 8.0915147373 17606976 18501091
MESH:D006689 Hodgkin Disease sodium arsenite 8.0912676792
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3616354765 18606429 16959395 15340226 8697196
MESH:D006937 Hypercholesterolemia Amiodarone 4.088137927 9751232
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2015034207
MESH:D006973 Hypertension Phenylephrine 5.538949925 12717712
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.5318850075 18670907
MESH:D006984 Hypertrophy Phenylephrine 4.7618502941 12791704
MESH:D007037 Hypothyroidism Amiodarone 4.7718020914 17991464
MESH:D007248 Infertility, Male sodium arsenite 3.1212646999 15346721
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9512200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.349022650 8074119
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007674 Kidney Diseases Doxorubicin 6.6416775033 15369732 15699352
MESH:D007674 Kidney Diseases sodium arsenite 6.6420008137
MESH:D007676 Kidney Failure, Chronic Doxorubicin 4.3616707910
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.146582329
MESH:D004915 Leukemia, Erythroblastic, Acute Doxorubicin 5.4716085563
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell Docosahexaenoic Acids 5.2117077332
MESH:D008064 Lipidoses Amiodarone 3.6515342952 17567588
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3115034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Doxorubicin 2.4816595196 16439617
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.4812878042
MESH:D008107 Liver Diseases Docosahexaenoic Acids 3.4517056761
MESH:D008113 Liver Neoplasms sodium arsenite 4.6715276417 16712894
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6716984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.551399818 3712494 598648 6587162
MESH:D008114 Liver Neoplasms, Experimental Doxorubicin 10.5516842330 17085340
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.5512151625
MESH:D008133 Long QT Syndrome marker/mechanism
MESH:D008133 Long QT Syndrome Amiodarone 3.7315350150 11989578 17391786
MESH:D008171 Lung Diseases Amiodarone 7.9612587719
MESH:D008171 Lung Diseases sodium arsenite 7.9619095001
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.8018516814
MESH:D008175 Lung Neoplasms Doxorubicin 3.556189445 17418594
MESH:D008175 Lung Neoplasms sodium arsenite 3.5519931552 17306315 17077188 16712894 15276417
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5511884234 19555203
MESH:D008223 Lymphoma Doxorubicin 3.6016098063
MESH:D008228 Lymphoma, Non-Hodgkin Doxorubicin 3.9617654614
MESH:D016399 Lymphoma, T-Cell Doxorubicin 4.8315621674
MESH:D008325 Mammary Neoplasms, Experimental Doxorubicin 3.1515458769
MESH:D008545 Melanoma Doxorubicin 3.5616827129
MESH:D008545 Melanoma sodium arsenite 3.5616487513 19082730
MESH:D008654 Mesothelioma Doxorubicin 3.1317638057
MESH:D028361 Mitochondrial Diseases Doxorubicin 4.7015792986
MESH:D052016 Mucositis Doxorubicin 5.0817415656
MESH:D009136 Muscular Dystrophies marker/mechanism
MESH:D049288 Muscular Dystrophies, Limb-Girdle marker/mechanism 12847114
OMIM:607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C marker/mechanism
MESH:D009181 Mycoses Amiodarone 5.2212754197 17974566
MESH:D009203 Myocardial Infarction Doxorubicin 3.0215857846 19429709
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 6.083581430
MESH:D009362 Neoplasm Metastasis Doxorubicin 6.0818259882
MESH:D009369 Neoplasms sodium arsenite 2.5811559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.9220056578
MESH:D009401 Nephrosis Doxorubicin 5.0316899518 16636307
MESH:D009404 Nephrotic Syndrome Doxorubicin 4.1815640375 16889571
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 7.696679447
MESH:D009436 Neural Tube Defects sodium arsenite 7.6912854658
MESH:D009447 Neuroblastoma Doxorubicin 3.3615555623
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.614026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.343988306
MESH:D012516 Osteosarcoma Doxorubicin 4.2815930896
MESH:D010051 Ovarian Neoplasms sodium arsenite 2.4917306315 15276417
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.747296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.796228378
MESH:D003557 Phyllodes Tumor Doxorubicin 5.4717983394
MESH:D010997 Pleural Neoplasms Doxorubicin 5.4717638057
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811896295 11399792 11118676 11222880
MESH:D011471 Prostatic Neoplasms Doxorubicin 3.3515897917 18437689 16868541 16729912 15749863 16888761
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.3516039940
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9212490602 11597910 12832656
MESH:D051437 Renal Insufficiency Doxorubicin 4.4817922066
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.523692021
MESH:C535685 Rippling muscle disease marker/mechanism
MESH:D012509 Sarcoma Doxorubicin 4.1817203757 16767912 15675481 17710206 18313854 15625365
MESH:D012512 Sarcoma, Ewing's Doxorubicin 4.4816326096 14601052
MESH:D012514 Sarcoma, Kaposi Doxorubicin 5.0817846226
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.3718724381
MESH:D012852 Sinusitis Phenylephrine 4.997327846
MESH:D012878 Skin Neoplasms Doxorubicin 9.9815692506
MESH:D012878 Skin Neoplasms sodium arsenite 9.9819524636 18572023
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.9816192470
MESH:D012983 Soft Tissue Neoplasms Doxorubicin 4.8315625365 17203757 16767912
MESH:D016135 Spinal Dysraphism sodium arsenite 3.9512854658
MESH:D013274 Stomach Neoplasms Docosahexaenoic Acids 3.0719015929
MESH:D013276 Stomach Ulcer Amiodarone 3.5218087811
MESH:D013610 Tachycardia Amiodarone 4.5311238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.4319225199
MESH:D013959 Thyroid Diseases Amiodarone 13.1419731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 13.1412697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.786582329 7505956 3712494 1399818 6587162
MESH:D013964 Thyroid Neoplasms Doxorubicin 7.7816010429 17909728
MESH:D013971 Thyrotoxicosis Amiodarone 5.1219584973 18020914
MESH:D016171 Torsades de Pointes Amiodarone 4.4711989578 17467628
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.798074119
MESH:D001749 Urinary Bladder Neoplasms Doxorubicin 8.7917653716
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 8.7917306315 11723127 16452187 16712894
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.9611813266
MESH:D014652 Vascular Diseases sodium arsenite 4.7117056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D018487 Ventricular Dysfunction, Left Doxorubicin 4.4816364871 17334414 17638931 17678736
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
Pathway ID Pathway Name
KEGG:05100 Bacterial invasion of epithelial cells
KEGG:04144 Endocytosis
KEGG:04510 Focal adhesion
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26109
    • No data
    Releated disease ID Related disease Name
    PA447228congenital long QT syndrome
    PA446379Death, Sudden, Cardiac
    PA444807Long QT Syndrome
    PA446294Torsades de Pointes
    Releated drug ID Related drug Name
    PA448383amiodarone
    PA452233antipsychotics
    PA448486arsenic trioxide
    PA448498astemizole
    PA164754755bepridil
    PA448948chloroquine
    PA448964chlorpromazine
    PA449011cisapride
    PA449028clarithromycin
    PA449373disopyramide
    PA449389dofetilide
    PA134711056domperidone
    PA449422droperidol
    PA449493erythromycin
    PA449839halofantrine
    PA449841haloperidol
    PA449958ibutilide
    PA450215levomethadyl acetate
    PA450386mesoridazine
    PA450401methadone
    PA450850pentamidine
    PA450965pimozide
    PA451108procainamide
    PA451209quinidine
    PA451457sotalol
    PA451472sparfloxacin
    PA451619terfenadine
    PA451666thioridazine
    Drug Bank Top

    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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