AutismKB 2.0

Annotation Detail for GABRA6


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Basic Information Top
Gene Symbol:GABRA6 ( MGC116903,MGC116904 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 6
Band: 5q34
Quick LinksEntrez ID:2559; OMIM: 137143; Uniprot ID:GBRA6_HUMAN; ENSEMBL ID: ENSG00000145863; HGNC ID: 4080
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04080Neuroactive ligand-receptor interaction
No data
No data
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No data
Related Diseases/Disorders Top
No data
No data
Desease Name
neuroticism
glucose
blood pressure, arterial
CHEMDEPENDENCY
PSYCH
lipids
cortisol
anxiety disorder
alcohol abuse
alcohol dependence
memory impairment
METABOLIC
perceived parenting
obesity
Heartburn
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D005680 gamma-Aminobutyric Acid Flumazenil promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]]affects binding|increases activity|increases reaction 8632757
D005680 gamma-Aminobutyric Acid Ro 15-4513 promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]]affects binding|increases activity|increases reaction 8632757
D005680 gamma-Aminobutyric Acid gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein co-treated with GABRB2 protein co-treated with GABRG2 protein]affects cotreatment|increases activity 11123204
D005680 gamma-Aminobutyric Acid [gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein co-treated with GABRB2 protein co-treated with GABRG2 protein]] which results in increased transport of Chloridesaffects cotreatment|increases activity|increases transport 11123204
D005680 gamma-Aminobutyric Acid topiramate promotes the reaction [[gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein co-treated with GABRB2 protein co-treated with GABRG2 protein]] which results in increased transport of Chlorides]affects cotreatment|increases activity|increases reaction|increases transport 11123204
D000643 Ammonium Chloride Ammonium Chloride affects the expression of GABRA6 mRNAaffects expression 16483693
C054626 bretazenil bretazenil binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]affects binding|increases activity 8632757
D002330 Carmustine Carmustine results in decreased expression of GABRA6 mRNAdecreases expression 15980968
D002712 Chlorides [gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein co-treated with GABRB2 protein co-treated with GABRG2 protein]] which results in increased transport of Chloridesaffects cotreatment|increases activity|increases transport 11123204
D002712 Chlorides topiramate promotes the reaction [[gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein co-treated with GABRB2 protein co-treated with GABRG2 protein]] which results in increased transport of Chlorides]affects cotreatment|increases activity|increases reaction|increases transport 11123204
D003975 Diazepam Diazepam results in increased expression of GABRA6 mRNAincreases expression 15802192
D005442 Flumazenil Flumazenil binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]affects binding|increases activity 8632757
D005442 Flumazenil Flumazenil binds to [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]affects binding 8632757
D005442 Flumazenil Flumazenil promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]]affects binding|increases activity|increases reaction 8632757
D005576 Forskolin Forskolin results in decreased expression of GABRA6decreases expression 9147380
D005665 Furosemide Furosemide binds to and results in decreased activity of GABRA6 proteinaffects binding|decreases activity 12367619
D018682 GABA Agents GABA Agents binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]affects binding|increases activity 8632757
C063822 L 663581 L 663581 binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]affects binding|increases activity 8632757
D008628 Mercury Mercury results in increased expression of GABRA6 mRNAincreases expression 16823088
D010424 Pentobarbital Pentobarbital results in increased expression of GABRA6 mRNAincreases expression 8787126
C033457 phenobarbital quinidine phenobarbital quinidine results in increased expression of GABRA6 mRNAincreases expression 15802192
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of GABRA6 mRNAaffects binding|increases activity|increases expression 19710929
C042957 Ro 15-4513 Ro 15-4513 binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]affects binding|increases activity 8632757
C042957 Ro 15-4513 Ro 15-4513 promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]]affects binding|increases activity|increases reaction 8632757
C052342 topiramate topiramate promotes the reaction [[gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein co-treated with GABRB2 protein co-treated with GABRG2 protein]] which results in increased transport of Chlorides]affects cotreatment|increases activity|increases reaction|increases transport 11123204
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.5518287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.1018653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.4716434500
MESH:D000437 Alcoholism topiramate 5.0117925516 18552399 19331489
MESH:D001008 Anxiety Disorders Diazepam 9.7916284244 18313124
MESH:D001008 Anxiety Disorders Pentobarbital 9.7911141031 18313124
MESH:D001321 Autistic Disorder Mercury 2.7817497416
MESH:D001327 Autoimmune Diseases Mercury 4.8616634805
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.1319483382
MESH:D001932 Brain Neoplasms Carmustine 4.3716187019
MESH:D002311 Cardiomyopathy, Dilated Mercury 3.4410334427
MESH:D002659 Child Development Disorders, Pervasive topiramate 4.0915650499
MESH:D002779 Cholestasis pirinixic acid 2.8119176532
MESH:D002972 Cleft Palate Diazepam 4.353629520
MESH:D017449 Dermatitis, Allergic Contact Mercury 3.7816823706
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4118249437
MESH:D003924 Diabetes Mellitus, Type 2 topiramate 3.6916979414
MESH:D004417 Dyspnea Furosemide 4.9416935035
MESH:D004421 Dystonia Diazepam 5.651851702
MESH:D004487 Edema Furosemide 7.0811834646
MESH:D004487 Edema pirinixic acid 7.0812083418
MESH:D004828 Epilepsies, Partial Diazepam 5.543922381
MESH:D004827 Epilepsy Diazepam 7.75821787
MESH:D004827 Epilepsy topiramate 7.7519148780
MESH:D004832 Epilepsy, Absence Diazepam 5.196426943 6401628
MESH:D004833 Epilepsy, Temporal Lobe topiramate 6.2716499746
MESH:D005234 Fatty Liver pirinixic acid 2.7519236843 20131406
MESH:D005909 Glioblastoma Carmustine 3.9116187019
MESH:D034381 Hearing Loss Furosemide 4.8117868369
MESH:D006333 Heart Failure Furosemide 7.2716011733 12660669 16845234
MESH:D006333 Heart Failure pirinixic acid 7.2720558911
MESH:D006529 Hepatomegaly pirinixic acid 2.9818467677 16221962 19176532 19772884
MESH:D006934 Hypercalcemia Furosemide 5.0517652376
MESH:D053565 Hypercalciuria Furosemide 5.6417652376
MESH:D006943 Hyperglycemia pirinixic acid 3.1620558911
MESH:D006962 Hyperparathyroidism, Secondary Furosemide 5.8715086907
MESH:D046110 Hypertension, Pregnancy-Induced Furosemide 5.2716612254
MESH:C537153 Hypomagnesemia primary Furosemide 5.6411041285
MESH:D007019 Hypoproteinemia Furosemide 5.8716096441
MESH:D007022 Hypotension Furosemide 4.6011041285
MESH:D007024 Hypotension, Orthostatic Furosemide 5.4215811171
MESH:D007333 Insulin Resistance pirinixic acid 2.6216306350
MESH:D007674 Kidney Diseases Furosemide 6.7811041285
MESH:D007674 Kidney Diseases Mercury 6.7817934191
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3415474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.8120007298 16377806 15890375
MESH:D008545 Melanoma Carmustine 2.8612393984
MESH:D008881 Migraine Disorders topiramate 4.5618803445 16942474 18765137 18759728
MESH:D009135 Muscular Diseases pirinixic acid 3.4916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1319151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9316411023
MESH:D009369 Neoplasms pirinixic acid 1.9417405874
MESH:D009397 Nephrocalcinosis Furosemide 5.8715086907
MESH:D053206 Nocturnal Enuresis Furosemide 5.8717945291
MESH:D009765 Obesity pirinixic acid 1.8120558911
MESH:D011141 Polyuria Furosemide 5.6417945291
MESH:D012021 Reflex, Abnormal Pentobarbital 6.0110930210
MESH:D015427 Reperfusion Injury Furosemide 6.7716526316
MESH:D015427 Reperfusion Injury pirinixic acid 6.7719058328
MESH:D012128 Respiratory Distress Syndrome, Adult Furosemide 4.6016096441 15912074 12394941
MESH:D012559 Schizophrenia marker/mechanism 18923069
MESH:D012640 Seizures Diazepam 10.3510087439 15946322 9754883
MESH:D012640 Seizures Pentobarbital 10.359754883 10087439
MESH:D012640 Seizures topiramate 10.3516499746
MESH:D013274 Stomach Neoplasms Furosemide 2.8617052386
MESH:D013375 Substance Withdrawal Syndrome Diazepam 10.639754883
MESH:D013375 Substance Withdrawal Syndrome Pentobarbital 10.639754883 11529278
Pathway ID Pathway Name
KEGG:04080 Neuroactive ligand-receptor interaction
REACT:13685 Synaptic Transmission
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA28494
    • No data
    No data
    Releated drug ID Related drug Name
    PA164743471adenosine triphosphate
    PA449659flumazenil
    PA449283diazepam
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00186 potentiator Lorazepam Anti-anxiety Agents;Hypnotics and Sedatives;Antiemetics;Anticonvulsants;Benzodiazepines;GABA Modulators
    DB00189 agonist Ethchlorvynol Hypnotics and Sedatives
    DB00231 potentiator Temazepam Anti-anxiety Agents;Hypnotics and Sedatives;Benzodiazepines;Adjuvants, Anesthesia;GABA Modulators
    DB00237 potentiator Butabarbital Anti-anxiety Agents;Hypnotics and Sedatives;Barbiturates
    DB00241 potentiator Trianal-C 1/2 Capsule Analgesics
    DB00306 potentiator Talbutal Analgesics
    DB00312 potentiator Cafergot PB Tab Hypnotics and Sedatives;Adjuvants, Anesthesia;GABA Modulators;Barbiturates
    DB00349 potentiator Clobazam Anticonvulsants;Benzodiazepines
    DB00371 agonist Equagesic Tablets Anti-anxiety Agents;Hypnotics and Sedatives;Anticonvulsants;Muscle Relaxants, Central
    DB00404 potentiator Alprazolam Anti-anxiety Agents;Hypnotics and Sedatives;Benzodiazepines;GABA Modulators
    DB00418 potentiator Secobarbital Hypnotics and Sedatives;Adjuvants, Anesthesia;GABA Modulators;Barbiturates;Adjuvants
    DB00463 potentiator Metharbital Anticonvulsants
    DB00475 potentiator Pro Chlorax Anti-anxiety Agents;Hypnotics and Sedatives;Benzodiazepines;Adjuvants, Anesthesia;GABA Modulators
    DB00599 potentiator Thiotal 5g Hypnotics and Sedatives;Anticonvulsants;GABA Modulators;Anesthetics, Intravenous
    DB00628 potentiator Clorazepate Anti-anxiety Agents;Anticonvulsants;GABA Modulators
    DB00683 potentiator Midazolam Anti-anxiety Agents;Hypnotics and Sedatives;Adjuvants, Anesthesia;GABA Modulators;Anesthetics, Intravenous
    DB00690 potentiator Flurazepam Anti-anxiety Agents;Hypnotics and Sedatives;GABA Modulators
    DB00794 potentiator Primidone Anticonvulsants;Barbiturates
    DB00842 potentiator Oxazepam Anti-anxiety Agents;Hypnotics and Sedatives;GABA Modulators
    DB00849 potentiator Methylphenobarbital Hypnotics and Sedatives;Anticonvulsants;GABA Modulators
    DB00897 potentiator Triazolam Anti-anxiety Agents;Benzodiazepines;Adjuvants, Anesthesia;GABA Modulators
    DB01174 potentiator Phenobarbital Hypnotics and Sedatives;Anticonvulsants;GABA Modulators;Excitatory Amino Acid Antagonists
    DB01351 potentiator Amobarbital Hypnotics and Sedatives;GABA Modulators
    DB01352 potentiator Aprobarbital
    DB01353 potentiator Butethal Anti-anxiety Agents;Hypnotics and Sedatives;Barbiturates
    DB01354 potentiator Heptabarbital Hypnotics and Sedatives;Barbiturates
    DB01355 potentiator Hexobarbital Hypnotics and Sedatives;GABA Modulators;Barbiturates;Adjuvants
    DB01483 potentiator Barbital Hypnotics and Sedatives;GABA Modulators
    DB01496 potentiator Barbituric acid derivative
    DB01544 agonist Flunitrazepam Anti-anxiety Agents;Hypnotics and Sedatives;Benzodiazepines;GABA Modulators
    DB01558 potentiator Bromazepam Anti-anxiety Agents;Hypnotics and Sedatives;Benzodiazepines;GABA Modulators
    DB01595 potentiator Nitrazepam Anti-anxiety Agents;Hypnotics and Sedatives;Anticonvulsants;GABA Modulators
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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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