AutismKB 2.0

Annotation Detail for ATP1A3


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Basic Information Top
Gene Symbol:ATP1A3 ( DYT12,MGC13276,RDP )
Gene Full Name: ATPase, Na+/K+ transporting, alpha 3 polypeptide
Band: 19q13.2
Quick LinksEntrez ID:478; OMIM: 182350; Uniprot ID:AT1A3_HUMAN; ENSEMBL ID: ENSG00000105409; HGNC ID: 801
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04973Carbohydrate digestion and absorption
hsa04970Salivary secretion
hsa04972Pancreatic secretion
hsa04974Protein digestion and absorption
hsa04960Aldosterone-regulated sodium reabsorption
hsa04964Proximal tubule bicarbonate reclamation
hsa04971Gastric acid secretion
hsa04260Cardiac muscle contraction
No data
No data
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Related Diseases/Disorders Top
No data
Desease IDDesease Name
1709Parkinson disease
1712Yersinia infection
1715Myotonic disorder
No data
No data
Desease Name
Dystonia-12
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000171 Acrolein Acrolein binds to ATP1A3 proteinaffects binding 17023561
C010845 aluminum chloride aluminum chloride results in decreased activity of ATP1A3 proteindecreases activity 16162844
D000641 Ammonia Ammonia results in decreased expression of ATP1A3 mRNAdecreases expression 20447429
D002330 Carmustine Carmustine results in decreased expression of ATP1A3 mRNAdecreases expression 15980968
D003345 Corticosterone Corticosterone results in decreased expression of ATP1A3 mRNAdecreases expression 15755911
D005419 Flavonoids Flavonoids results in decreased expression of ATP1A3 mRNAdecreases expression 18035473
D006220 Haloperidol Haloperidol results in decreased expression of ATP1A3 mRNAdecreases expression 15860345
D010126 Ozone TTPA protein affects the reaction [Ozone results in decreased expression of ATP1A3 mRNA]affects reaction|decreases expression 19555225
C025299 polyphenols polyphenols results in decreased expression of ATP1A3 mRNAdecreases expression 16293270
D010042 Ouabain Ouabain results in increased expression of ATP1A3 mRNAincreases expression 19995221
D010042 Ouabain Ouabain results in increased expression of ATP1A3 proteinincreases expression 19995221
D010042 Ouabain Ouabain results in decreased expression of ATP1A3 mRNAdecreases expression 11204457
C025643 vinclozolin vinclozolin affects the expression of ATP1A3 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury Acrolein 4.8621297076 20525806
MESH:D000544 Alzheimer Disease Acrolein 4.7414715435 17570602 15207723
MESH:D000544 Alzheimer Disease Ozone 4.7415513908
MESH:D001008 Anxiety Disorders vinclozolin 3.7519015723
MESH:D001161 Arteriosclerosis Acrolein 5.1815014928
MESH:D001172 Arthritis, Rheumatoid Ozone 2.5815570426
MESH:D001249 Asthma Ozone 2.6716373670 17854713
MESH:D050197 Atherosclerosis Acrolein 4.0517363696 16126721 16037261
MESH:D001321 Autistic Disorder Haloperidol 2.7318080171 19368416
MESH:D001929 Brain Edema Ammonia 6.4920217200 11481608 19393034
MESH:D001932 Brain Neoplasms Carmustine 4.5216187019
MESH:D016535 Bronchial Hyperreactivity Ozone 3.7915516495 14754758 18417511 19059883 18315731 17626835 16777450
MESH:D002100 Cachexia Ozone 4.9316183385
MESH:D002375 Catalepsy Haloperidol 5.1015215559 1977408
MESH:D003110 Colonic Neoplasms polyphenols 2.6916293270
MESH:D015179 Colorectal Neoplasms Acrolein 2.9317597105
MESH:D003456 Cryptorchidism vinclozolin 4.5014966744
MESH:D003556 Cystitis Acrolein 5.6112161096
MESH:D016757 Death, Sudden, Cardiac Haloperidol 4.9920210726
MESH:D003704 Dementia Haloperidol 4.7211575062
MESH:D017449 Dermatitis, Allergic Contact Ammonia 4.9216823706
MESH:D056486 Drug-Induced Liver Injury polyphenols 2.7719370779
MESH:C538001 Dystonia 12 marker/mechanism
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5216417039
MESH:D005909 Glioblastoma Carmustine 4.0116187019
MESH:D006501 Hepatic Encephalopathy Ammonia 5.9616338762 12420312 20549931
MESH:D006973 Hypertension Ouabain 4.5218976649
MESH:D007248 Infertility, Male vinclozolin 3.1316467254
MESH:D007249 Inflammation Flavonoids 5.6617296493
MESH:D007249 Inflammation polyphenols 5.6616366677
MESH:D007674 Kidney Diseases Acrolein 3.9112488133
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9316417039
MESH:D008107 Liver Diseases polyphenols 2.8116698588
MESH:D008171 Lung Diseases Acrolein 8.2011504702
MESH:D008171 Lung Diseases Ozone 8.208266340 19066396
MESH:D055370 Lung Injury Ozone 4.0220417186
MESH:D008175 Lung Neoplasms Ozone 2.108597069 7614698
MESH:D008325 Mammary Neoplasms, Experimental Corticosterone 3.7112807724
MESH:D008545 Melanoma Carmustine 2.8812393984
MESH:D008546 Melanoma, Experimental Acrolein 5.3810803710
MESH:D001523 Mental Disorders Haloperidol 4.2016856516
MESH:D008679 Metaplasia Ozone 5.3210496685
MESH:D009369 Neoplasms Acrolein 3.6017329238
MESH:D009393 Nephritis Acrolein 6.5012653641
MESH:D019636 Neurodegenerative Diseases Acrolein 4.6311342003
MESH:D010300 Parkinson Disease Acrolein 3.6317690948
MESH:D010538 Peritonitis Ozone 4.3116369182
MESH:D010787 Photosensitivity Disorders Acrolein 5.9611550810
MESH:D011014 Pneumonia Ozone 4.5918007984 18381685 18929643
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.0918042343 19015723 18220299
MESH:D011469 Prostatic Diseases vinclozolin 5.1318220299
MESH:D011472 Prostatitis vinclozolin 5.1318629315
MESH:D011595 Psychomotor Agitation Haloperidol 5.1311575062
MESH:D011618 Psychotic Disorders Haloperidol 4.3511575062
MESH:D051437 Renal Insufficiency Acrolein 5.1812732208
MESH:D012559 Schizophrenia Haloperidol 2.8218513383 20107430 1830565 19369910
MESH:D020521 Stroke Acrolein 4.6716269634
MESH:D017180 Tachycardia, Ventricular Haloperidol 4.8720210726
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.4717997062
Pathway ID Pathway Name
KEGG:04960 Aldosterone-regulated sodium reabsorption
KEGG:04976 Bile secretion
KEGG:04973 Carbohydrate digestion and absorption
KEGG:04260 Cardiac muscle contraction
KEGG:04961 Endocrine and other factor-regulated calcium reabsorption
KEGG:04971 Gastric acid secretion
KEGG:04978 Mineral absorption
KEGG:04972 Pancreatic secretion
KEGG:04974 Protein digestion and absorption
KEGG:04964 Proximal tubule bicarbonate reclamation
KEGG:04970 Salivary secretion
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA64
    • No data
    No data
    Releated drug ID Related drug Name
    PA449319digoxin
    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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