AutismKB 2.0

Annotation Detail for GABRA4


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Basic Information Top
Gene Symbol:GABRA4 ( - )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 4
Band: 4p12
Quick LinksEntrez ID:2557; OMIM: 137141; Uniprot ID:GBRA4_HUMAN; ENSEMBL ID: ENSG00000109158; HGNC ID: 4078
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04080Neuroactive ligand-receptor interaction
No data
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D005680 gamma-Aminobutyric Acid gamma-Aminobutyric Acid results in increased activity of [GABRA4 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 [GABRA4 protein co-treated with GABRB2 protein co-treated with GABRG2 protein]] which results in increased transport of Chloridesaffects cotreatment|increases activity|increases transport 11123204
D000643 Ammonium Chloride Ammonium Chloride affects the expression of GABRA4 mRNAaffects expression 16483693
D001761 Bleomycin Bleomycin results in decreased expression of GABRA4 mRNAdecreases expression 15808516
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of GABRA4 mRNAincreases expression 12832660
D002712 Chlorides [gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein co-treated with GABRB2 protein co-treated with GABRG2 protein]] which results in increased transport of Chloridesaffects cotreatment|increases activity|increases transport 11123204
C086916 delta-hexachlorocyclohexane delta-hexachlorocyclohexane results in decreased activity of [GABRA4 protein binds to GABRB2 protein binds to GABRG2 protein alternative form]affects binding|decreases activity 11156579
D003975 Diazepam Diazepam results in increased expression of GABRA4 mRNAincreases expression 15802192
D004958 Estradiol Estradiol affects the expression of GABRA4 mRNAaffects expression 16000229
D005665 Furosemide Furosemide results in decreased activity of GABRA4 proteindecreases activity 15613639
D007530 Isoflurane [Isoflurane co-treated with Nitrous Oxide] affects the expression of GABRA4 mRNAaffects cotreatment|affects expression 16733821
D007657 Ketone Bodies Ketone Bodies results in decreased expression of GABRA4 mRNAdecreases expression 15469884
D008140 Lorazepam GABRA4 protein affects the susceptibility to Lorazepamaffects response to substance 12522171
D008140 Lorazepam Lorazepam affects the expression of GABRA4 mRNAaffects expression 16107249
D008874 Midazolam Midazolam results in increased expression of GABRA4 mRNAincreases expression 16733821
D009609 Nitrous Oxide [Isoflurane co-treated with Nitrous Oxide] affects the expression of GABRA4 mRNAaffects cotreatment|affects expression 16733821
D010424 Pentobarbital Pentobarbital results in increased expression of GABRA4 mRNAincreases expression 16733821
C033457 phenobarbital quinidine phenobarbital quinidine results in increased expression of GABRA4 mRNAincreases expression 15802192
C006253 pirinixic acid pirinixic acid results in increased expression of GABRA4 mRNAincreases expression 12832660
D011374 Progesterone GABRA4 protein affects the susceptibility to Progesteroneaffects response to substance 12522171
D011374 Progesterone Progesterone affects the expression of GABRA4 proteinaffects expression 12522171
15834956
D015742 Propofol Propofol results in increased expression of GABRA4 mRNAincreases expression 16733821
C042957 Ro 15-4513 Ro 15-4513 results in increased activity of GABRA4 proteinincreases activity 16162846
D013619 Tacrine Tacrine results in increased expression of GABRA4 mRNAincreases expression 12832660
D043343 Testosterone Propionate Testosterone Propionate results in increased expression of GABRA4 mRNAincreases expression 16957604
D014050 Toluene Toluene affects the expression of GABRA4 mRNAaffects expression 17108153
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.4118287403
MESH:D055371 Acute Lung Injury Bleomycin 8.8817118201
MESH:D055371 Acute Lung Injury pirinixic acid 8.8818653653
MESH:D000230 Adenocarcinoma Estradiol 2.0611473722
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.3316434500
MESH:D000544 Alzheimer Disease Tacrine 3.8912725862
MESH:D000860 Anoxia Bleomycin 5.2615782499
MESH:D001008 Anxiety Disorders Diazepam 9.4518313124 16284244
MESH:D001008 Anxiety Disorders Pentobarbital 9.4518313124 11141031
MESH:D001321 Autistic Disorder marker/mechanism 16770606 16080114
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.0119483382
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.1917868700
MESH:D001930 Brain Injuries Progesterone 4.1115380490 15845082 15665606
MESH:D001943 Breast Neoplasms Estradiol 2.2417018787 17289903 16675129 12948864 19861407 17261762 18497071 14630087
MESH:D001943 Breast Neoplasms Progesterone 2.2415562024 17614352 16175315
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.3116111702
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.6310355542 16050911 3786805 18705752 15721981 16124888 15700767 16097048 15673190 16011737 16227642 16192424
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 2.9118788625
MESH:D006528 Carcinoma, Hepatocellular Estradiol 2.9116924424
MESH:D002294 Carcinoma, Squamous Cell Bleomycin 3.566189445
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.6718566989
MESH:D002547 Cerebral Palsy Toluene 5.709294310
MESH:D002779 Cholestasis pirinixic acid 2.7119176532
MESH:D002972 Cleft Palate Diazepam 4.303629520
MESH:D019465 Craniofacial Abnormalities Toluene 2.879294310
MESH:D003643 Death Toluene 5.526431079
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3618249437
MESH:D003928 Diabetic Nephropathies Estradiol 3.2819279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.3417187935
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 2.0017522070 6884620 21278145 15027814 2869522 7120509 10915739 11566570 7440962 6623471 15968718 19336974 9327722 7179309 4309450 3786805 16177239 10092053 16227642 15998439 19085960 3732212
MESH:D004417 Dyspnea Furosemide 4.7916935035
MESH:D004421 Dystonia Diazepam 5.531851702
MESH:D004487 Edema Bleomycin 10.9717118201
MESH:D004487 Edema Furosemide 10.9711834646
MESH:D004487 Edema pirinixic acid 10.9712083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 3.6317692515
MESH:D016889 Endometrial Neoplasms Estradiol 2.8811473722 19148513 18566989
MESH:D004715 Endometriosis Progesterone 3.6316134523
MESH:D004828 Epilepsies, Partial Diazepam 5.393922381
MESH:D004827 Epilepsy Diazepam 4.48821787
MESH:D004832 Epilepsy, Absence Diazepam 5.086426943 6401628
MESH:D005234 Fatty Liver Carbon Tetrachloride 7.2212631006 61145 12795759 16239168 15959796 16045604 19224547 17595544
MESH:D005234 Fatty Liver pirinixic acid 7.2220131406 19236843
MESH:D005355 Fibrosis Carbon Tetrachloride 3.3118705752
MESH:D034381 Hearing Loss Furosemide 4.7017868369
MESH:D006333 Heart Failure Furosemide 7.0116011733 12660669 16845234
MESH:D006333 Heart Failure pirinixic acid 7.0120558911
MESH:D006505 Hepatitis Carbon Tetrachloride 3.4519900420 19110552
MESH:D006529 Hepatomegaly pirinixic acid 2.8519772884 18467677 16221962 19176532
MESH:D006558 Herpes Genitalis Estradiol 4.8815709030
MESH:D006689 Hodgkin Disease Bleomycin 4.2417606976 18501091 15147373
MESH:D019584 Hot Flashes Estradiol 3.6017088409
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.3816899240
MESH:D006934 Hypercalcemia Furosemide 4.9317652376
MESH:D053565 Hypercalciuria Furosemide 5.5017652376
MESH:D006943 Hyperglycemia pirinixic acid 3.0520558911
MESH:D006962 Hyperparathyroidism, Secondary Furosemide 5.7215086907
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 3.9415338365
MESH:D046110 Hypertension, Pregnancy-Induced Furosemide 5.1316612254
MESH:C537153 Hypomagnesemia primary Furosemide 5.5011041285
MESH:D007019 Hypoproteinemia Furosemide 5.7216096441
MESH:D007022 Hypotension Furosemide 9.3911041285
MESH:D007022 Hypotension Isoflurane 9.3912967683
MESH:D007024 Hypotension, Orthostatic Furosemide 5.2715811171
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.2515869954
MESH:D007249 Inflammation Bleomycin 5.4117118201
MESH:D007249 Inflammation Progesterone 5.4115869954
MESH:D007333 Insulin Resistance Estradiol 6.8716393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 6.8716306350
MESH:D007674 Kidney Diseases Estradiol 6.1815618244
MESH:D007674 Kidney Diseases Furosemide 6.1811041285
MESH:D007680 Kidney Neoplasms Estradiol 2.8615610895
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.7316943688 21278145 11408273 17174718 17334410 17157831 16221502 11903743 16239168
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.3415362042 16136751 15818738 16638106 12586293 18210741 15996030 14748882 17721639 17922224 18279442 18376398 17761835 17714472 18339082 17557913 15123356 17823541 12741479 16015684 10355542 12546737 18205269 18277467 18156304 14512876 20821823 15925388 17640975 15370692 18263696 14724832 14716833 18472332 18481824 12649538 15959796 17708605 17944888 15893842 12958196 16248980 16027843 15673190 15057751 12445418 18317297 15730626 18420326 12389079 17766677 18251166 15876570 18395914 18395095 18006644 12609069 14716496 17976157 15338365 17565644 15650968 16011737 18412020 12445421 12666154 17631135 17805973 18705752 14620537 11481614 17698563 12632512 17869086 17525996 12632514 16192424 17481882 12667390 15931870 18418968 18054572 18166357 18472094 13678700 12898905 16116963 16033810 16097048 17900296 18187930 18429990 15052691
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.3414659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.3415474484
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.0516246199 15720792 15830285 16964402 17285989
MESH:D017093 Liver Failure Carbon Tetrachloride 4.0115123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.5614706259 16899240
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 4.2519294768
MESH:D008113 Liver Neoplasms pirinixic acid 4.2515890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 2.5215583823 12014681
MESH:D008175 Lung Neoplasms Bleomycin 3.106189445
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 5.7417203775 16891317 11408345 11807958
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 5.7411408345 17203775
MESH:D020149 Manganese Poisoning Estradiol 4.3319453300
MESH:D008545 Melanoma Bleomycin 3.2315577320
MESH:D008607 Mental Retardation Toluene 3.609294310
MESH:D019957 Motor Skills Disorders Toluene 5.099294310
MESH:D009135 Muscular Diseases pirinixic acid 3.3616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.0819151258
MESH:D015428 Myocardial Reperfusion Injury Estradiol 7.8616810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 7.8616411023
MESH:D009369 Neoplasms pirinixic acid 1.8817405874
MESH:D009389 Neovascularization, Pathologic Estradiol 3.5817289903
MESH:D009397 Nephrocalcinosis Furosemide 5.7215086907
MESH:D009421 Nervous System Malformations Estradiol 3.5016427766 11399458
MESH:D053206 Nocturnal Enuresis Furosemide 5.7217945291
MESH:D009765 Obesity pirinixic acid 1.7820558911
MESH:D010051 Ovarian Neoplasms Estradiol 4.7119401270
MESH:D010051 Ovarian Neoplasms Progesterone 4.7117393432 16525653
MESH:D010538 Peritonitis Isoflurane 5.0717414419
MESH:D011014 Pneumonia Bleomycin 5.2617071938 16317386 18024389
MESH:D011141 Polyuria Furosemide 5.5017945291
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.7520887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.1316740699
MESH:D011654 Pulmonary Edema Bleomycin 5.1715808516
MESH:D011658 Pulmonary Fibrosis Bleomycin 3.8115322207 18008008 18162602 12574379 15541506 17241526 21435439 14609568 17177178 16115399 17434272 12624602 11554783 16314464
MESH:D012021 Reflex, Abnormal Pentobarbital 5.8710930210
MESH:D015427 Reperfusion Injury Furosemide 6.5616526316
MESH:D015427 Reperfusion Injury pirinixic acid 6.5619058328
MESH:D012128 Respiratory Distress Syndrome, Adult Furosemide 4.4716096441 12394941 15912074
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.8018045962
MESH:D012640 Seizures Diazepam 22.049754883 10087439 15946322
MESH:D012640 Seizures Lorazepam 22.0416107249 10087439
MESH:D012640 Seizures Midazolam 22.0410087439
MESH:D012640 Seizures Nitrous Oxide 22.049754883
MESH:D012640 Seizures Pentobarbital 22.049754883 10087439
MESH:D012640 Seizures Toluene 22.046431079 9294310
MESH:D018805 Sepsis Isoflurane 4.8617414419
MESH:D012893 Sleep Disorders Midazolam 5.866138072
MESH:D007319 Sleep Initiation and Maintenance Disorders Lorazepam 10.8615341891
MESH:D007319 Sleep Initiation and Maintenance Disorders Midazolam 10.866138071
MESH:D013119 Spinal Cord Injuries Progesterone 4.1315862959 16503802
MESH:D013274 Stomach Neoplasms Furosemide 2.8617052386
MESH:D013375 Substance Withdrawal Syndrome Diazepam 16.209754883
MESH:D013375 Substance Withdrawal Syndrome Nitrous Oxide 16.209754883
MESH:D013375 Substance Withdrawal Syndrome Pentobarbital 16.209754883 11529278
MESH:D013733 Testicular Diseases Toluene 4.8010514026 10048760
MESH:D013742 Tetanus Midazolam 13.632903605
MESH:D013742 Tetanus Propofol 13.632903605
MESH:D013978 Tibial Fractures Estradiol 4.5319048282
MESH:D015431 Weight Loss Bleomycin 5.4912624602
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:PA28492
    • No data
    Releated disease ID Related disease Name
    PA447268tardive dyskinesia
    PA443309Alcoholism
    Releated drug ID Related drug Name
    PA164743471adenosine triphosphate
    PA449659flumazenil
    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
    DB01068 potentiator Clonazepam Anticonvulsants;Benzodiazepines;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
    No data
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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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