AutismKB 2.0

Annotation Detail for GABBR2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GABBR2 ( FLJ36928,GABABR2,GPR51,GPRC3B,HG20,HRIHFB2099 )
Gene Full Name: gamma-aminobutyric acid (GABA) B receptor, 2
Band: 9q22.33
Quick LinksEntrez ID:9568; OMIM: 607340; Uniprot ID:GABR2_HUMAN; ENSEMBL ID: ENSG00000136928; HGNC ID: 4507
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04080Neuroactive ligand-receptor interaction
Pathway IDPathway Name
Signaling by GPCR
No data
Pathway IDPathway Name
P05731GABA-B receptor II signaling
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1799Epilepsy
No data
No data
Desease Name
Nicotine dependence, protection against
Nicotine dependence, susceptibility to
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C061388 3-aminopropylphosphinic acid 3-aminopropylphosphinic acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]affects binding|increases activity 15627515
C061388 3-aminopropylphosphinic acid Calcium promotes the reaction [3-aminopropylphosphinic acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]affects binding|increases activity|increases reaction 15627515
C061388 3-aminopropylphosphinic acid CGP 7930 promotes the reaction [3-aminopropylphosphinic acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]affects binding|increases activity|increases reaction 15627515
D005680 gamma-Aminobutyric Acid Calcium promotes the reaction [CGP 55845A inhibits the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]]affects binding|decreases reaction|increases activity|increases reaction 15627515
D005680 gamma-Aminobutyric Acid Calcium promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]affects binding|increases activity|increases reaction 15627515
D005680 gamma-Aminobutyric Acid CGP 55845A inhibits the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]affects binding|decreases reaction|increases activity 15627515
D005680 gamma-Aminobutyric Acid CGP 7930 promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]affects binding|increases activity|increases reaction 15627515
D005680 gamma-Aminobutyric Acid Egtazic Acid inhibits the reaction [CGP 7930 promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]]affects binding|decreases reaction|increases activity|increases reaction 15627515
D005680 gamma-Aminobutyric Acid Fendiline inhibits the reaction [CGP 7930 promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]]affects binding|decreases reaction|increases activity|increases reaction 15627515
D005680 gamma-Aminobutyric Acid gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]affects binding|increases activity 15627515
D005680 gamma-Aminobutyric Acid Trifluoperazine inhibits the reaction [CGP 7930 promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]]affects binding|decreases reaction|increases activity|increases reaction 15627515
D000643 Ammonium Chloride Ammonium Chloride affects the expression of GABBR2 mRNAaffects expression 16483693
C006632 arsenic trioxide arsenic trioxide results in decreased expression of GABBR2 mRNAdecreases expression 15761015
D001418 Baclofen Baclofen binds to GABBR2 proteinaffects binding 17496723
D002118 Calcium Calcium promotes the reaction [3-aminopropylphosphinic acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]affects binding|increases activity|increases reaction 15627515
D002118 Calcium Calcium promotes the reaction [CGP 55845A inhibits the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]]affects binding|decreases reaction|increases activity|increases reaction 15627515
D002118 Calcium Calcium promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]affects binding|increases activity|increases reaction 15627515
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of GABBR2 mRNAincreases expression 19784758
C085075 CGP 55845A Calcium promotes the reaction [CGP 55845A inhibits the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]]affects binding|decreases reaction|increases activity|increases reaction 15627515
C085075 CGP 55845A CGP 55845A binds to and results in decreased activity of [GABBR1 protein binds to GABBR2 protein]affects binding|decreases activity 15627515
C085075 CGP 55845A CGP 55845A inhibits the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]affects binding|decreases reaction|increases activity 15627515
C438607 CGP 7930 CGP 7930 promotes the reaction [3-aminopropylphosphinic acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]affects binding|increases activity|increases reaction 15627515
C438607 CGP 7930 CGP 7930 promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]affects binding|increases activity|increases reaction 15627515
C438607 CGP 7930 Egtazic Acid inhibits the reaction [CGP 7930 promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]]affects binding|decreases reaction|increases activity|increases reaction 15627515
C438607 CGP 7930 Fendiline inhibits the reaction [CGP 7930 promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]]affects binding|decreases reaction|increases activity|increases reaction 15627515
C438607 CGP 7930 Trifluoperazine inhibits the reaction [CGP 7930 promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]]affects binding|decreases reaction|increases activity|increases reaction 15627515
D004533 Egtazic Acid Egtazic Acid inhibits the reaction [CGP 7930 promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]]affects binding|decreases reaction|increases activity|increases reaction 15627515
D004958 Estradiol Estradiol affects the expression of GABBR2 mRNAaffects expression 14699072
D004958 Estradiol [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of GABBR2 mRNAaffects cotreatment|increases expression 19619570
D004958 Estradiol Estradiol results in increased expression of GABBR2 mRNAincreases expression 19619570
D005275 Fendiline Fendiline inhibits the reaction [CGP 7930 promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]]affects binding|decreases reaction|increases activity|increases reaction 15627515
D008743 Methyl Parathion Methyl Parathion results in increased expression of GABBR2 mRNAincreases expression 19784758
D010278 Parathion Parathion results in increased expression of GABBR2 mRNAincreases expression 19784758
D013749 Tetrachlorodibenzodioxin [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of GABBR2 mRNAaffects cotreatment|increases expression 19619570
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of GABBR2 mRNAincreases expression 16704738
19619570
C402769 tipifarnib tipifarnib results in increased expression of GABBR2 mRNAincreases expression 16403772
D014268 Trifluoperazine Trifluoperazine inhibits the reaction [CGP 7930 promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABBR1 protein binds to GABBR2 protein]]]affects binding|decreases reaction|increases activity|increases reaction 15627515
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.8415322242 11752688 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.5518287403
MESH:D000230 Adenocarcinoma arsenic trioxide 4.3811798837 19825857
MESH:D000230 Adenocarcinoma Estradiol 4.3811473722
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.3716835633
MESH:D000382 Agricultural Workers' Diseases Parathion 4.9917119214 11874814
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9311748828
MESH:D000787 Angina Pectoris Fendiline 6.9012088766
MESH:D001321 Autistic Disorder marker/mechanism 19002745
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 8.9016206674
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.9012125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.7915340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7515746008
MESH:D001943 Breast Neoplasms Estradiol 2.0312948864 16675129 17289903 19861407 17261762 18497071 14630087 17018787
MESH:D001943 Breast Neoplasms Parathion 2.0312762645
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0320435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.3111589617
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.4516111702
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.7716097048 15721981 3786805 15673190 16050911 15700767 16192424 16227642 16011737 18705752 16124888 10355542
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.7816835633
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 4.5815073043 16217749 11135700 14691202 15553829
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.5818788625
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.5816924424
MESH:D002291 Carcinoma, Papillary arsenic trioxide 4.8719014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.1012490120
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3518670907 16120746 18850075
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.7618566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1416835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.0915668235 8697196 12621046 15340226 16354765
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0417141729 14669216
MESH:D023903 Coronary Restenosis arsenic trioxide 4.1712609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.4610525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.4610048152 20055451 15322242
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.0815213294
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6617107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.3919279558
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 3.706884620 19336974 3786805 11566570 15027814 16177239 3732212 7440962 10092053 19085960 6623471 16227642 7120509 21278145 15998439 9327722 7179309 15968718 4309450 17522070 2869522 10915739
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.7020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7411462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.3611000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.9016714409 15322242 18230668
MESH:D016889 Endometrial Neoplasms Estradiol 2.9718566989 19148513 11473722
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.0010568697 9294722
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.3012903497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0011564622
MESH:D005234 Fatty Liver arsenic trioxide 7.8115073043
MESH:D005234 Fatty Liver Carbon Tetrachloride 7.8112631006 16239168 15959796 61145 12795759 19224547 16045604 17595544
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.4411858732
MESH:D005355 Fibrosis Carbon Tetrachloride 8.5518705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.5520067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.2416904648
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.5910696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3211294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3211000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.5819900420 19110552
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 2.8816120746 15340226 12621046
MESH:D006558 Herpes Genitalis Estradiol 5.0315709030
MESH:D019584 Hot Flashes Estradiol 3.7517088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.058697196 16354765 15340226 18606429 16959395
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.5216899240
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9018670907 18850075
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.0715338365
MESH:D007248 Infertility, Male Parathion 4.4716029889
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8412878042 12200463
MESH:D007333 Insulin Resistance Estradiol 2.9516627594 16393666
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3216580747
MESH:D007674 Kidney Diseases Estradiol 2.5715618244
MESH:D007680 Kidney Neoplasms Estradiol 2.9615610895
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 5.0516316344
MESH:D007938 Leukemia arsenic trioxide 2.8215070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.7812560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.3016972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.4114633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.7419077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1317050201 16467208 20471514 19850784 16968895
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.2012679006 16112521 16823087 16330433 9834237 16331271 17712046 15336539 19642359 17107899 12712474 15748426 17649720 11161223 11468182 17869043 19075265 17217047 16891316 16966277 15213294 15622746 19035177 19225113 12018890
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.3416882451
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.8011903743 11408273 16943688 21278145 17334410 17174718 16221502 16239168 17157831
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.4212741479 14512876 12632514 15925388 16027843 14620537 12586293 17698563 18279442 17714472 12898905 17805973 18205269 18251166 17557913 18395914 18429990 12649538 15996030 15931870 12546737 18006644 10355542 15730626 17721639 15052691 18418968 14748882 17565644 18472332 17631135 18277467 16192424 18412020 12632512 12666154 18705752 14716496 15057751 12389079 16116963 16015684 14716833 18210741 17944888 17761835 17525996 16097048 18317297 18376398 12667390 15338365 17976157 16638106 15362042 18472094 17900296 16248980 18187930 17869086 18339082 17481882 18420326 16136751 18166357 17823541 12609069 18054572 15959796 15818738 16033810 15370692 17766677 17922224 18481824 15673190 18395095 17708605 15123356 12445418 18263696 12445421 20821823 11481614 17640975 13678700 16011737 15876570 18156304 12958196 14724832 15650968 15893842
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.4214716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4212878042
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.0816246199 15830285 16964402 17285989 15720792
MESH:D017093 Liver Failure Carbon Tetrachloride 4.1515123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.6716899240 14706259
MESH:D008113 Liver Neoplasms arsenic trioxide 7.3614682389
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.3619294768
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.3616984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 9.7320377131
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 9.7315583823 12014681
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 9.7312151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.3315213294
MESH:D008175 Lung Neoplasms arsenic trioxide 3.6019825857 11798837
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.6011884234 19555203
MESH:D008175 Lung Neoplasms tipifarnib 3.6016885199
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.5511807958 17203775 11408345 16891317
MESH:D008325 Mammary Neoplasms, Experimental tipifarnib 6.5516648579
MESH:D020149 Manganese Poisoning Estradiol 4.4819453300
MESH:D009101 Multiple Myeloma arsenic trioxide 3.0915949261 19417148 14977855 11468182 19549372
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.6718349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.1316105982 16882451
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0012213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.2616810080
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 3.9416624393
MESH:D009389 Neovascularization, Pathologic Estradiol 3.7217289903
MESH:D009421 Nervous System Malformations Estradiol 9.4116427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.4114600291
MESH:D009436 Neural Tube Defects arsenic trioxide 3.1010525206
MESH:D020258 Neurotoxicity Syndromes Methyl Parathion 4.8319784758
MESH:D010024 Osteoporosis Calcium 3.7717882678
MESH:D010051 Ovarian Neoplasms arsenic trioxide 4.8119769630 16624393 12452020
MESH:D010051 Ovarian Neoplasms Estradiol 4.8119401270
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5215580305
MESH:D010235 Paraganglioma arsenic trioxide 4.1419927285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.2512520081
MESH:D011041 Poisoning Methyl Parathion 5.0217603234
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.1811222880 11896295 11399792 11118676
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.8720887781
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.2319131511
MESH:D011471 Prostatic Neoplasms Estradiol 3.2316740699
MESH:D012135 Respiratory Sounds Parathion 5.2811874814 17119214
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8218990726
MESH:D012140 Respiratory Tract Diseases Parathion 5.5517119214
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 3.9416646077
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0316192470
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.9012697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.0719014326
MESH:D013978 Tibial Fractures Estradiol 4.6919048282
OMIM:188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO marker/mechanism
MESH:D016171 Torsades de Pointes arsenic trioxide 3.9515213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 2.4712973940 20435036 12845720 11780464
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.5912125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.2515886252
Pathway ID Pathway Name
KEGG:04080 Neuroactive ligand-receptor interaction
REACT:14797 Signaling by GPCR
REACT:13685 Synaptic Transmission
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00181 agonist Baclofen Muscle Relaxants;Skeletal Muscle Relaxants;GABA Agonists;Muscle Relaxants, Central
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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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