AutismKB 2.0

Annotation Detail for GIT2


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Basic Information Top
Gene Symbol:GIT2 ( CAT-2,CAT2,DKFZp686G01261,KIAA0148,MGC760 )
Gene Full Name: G protein-coupled receptor kinase interacting ArfGAP 2
Band: 12q24.11
Quick LinksEntrez ID:9815; OMIM: 608564; Uniprot ID:GIT2_HUMAN; ENSEMBL ID: ENSG00000139436; HGNC ID: 4273
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04144Endocytosis
No data
Pathway IDPathway Name
200192Signaling events mediated by focal adhesion kinase
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2075Heart failure
No data
Desease Name
Metabolic syndrome
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of GIT2 mRNAaffects expression 21346803
C006632 arsenic trioxide arsenic trioxide results in increased expression of GIT2 mRNAincreases expression 15761015
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of GIT2 mRNAdecreases expression 19150397
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of GIT2 mRNAincreases expression 17942748
17555576
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of GIT2 mRNAaffects binding|increases activity|increases expression 19710929
D013629 Tamoxifen Tamoxifen affects the expression of GIT2 mRNAaffects expression 17555576
D014303 Trinitrotoluene Trinitrotoluene affects the expression of GIT2 mRNAaffects expression 21346803
D014635 Valproic Acid Valproic Acid results in increased expression of GIT2 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9214745880
MESH:D000014 Abnormalities, Drug-Induced Trinitrotoluene 9.957525203
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.958875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1719490988
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3818653653
MESH:D000230 Adenocarcinoma arsenic trioxide 4.4611798837 19825857
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.4614692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.8216434500
MESH:D000550 Amblyopia Valproic Acid 5.6117688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.7617497229
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001321 Autistic Disorder Valproic Acid 1.9918940202 17507914 17157402 15238991 18775368 18985861 18396377 18558336 16609825 18316065 19232924 20603192 19460635 18177632 17688650
MESH:D001714 Bipolar Disorder Valproic Acid 3.1817594078 20046352
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 9.8216206674
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.8219483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.548888407
MESH:D001943 Breast Neoplasms Tamoxifen 2.1819221464 20135344 18815881 19084267 17893378 15668708 19189212 19155303 15565566 18629630 19115204 20544844 19189210 19011961 20390343 19142967 18425577 16202921 19059307 11161223 19244106 18984771 20859285 21138602 17242785 18997820 19410462 18855134 20005174 20065188 19103187 17049068 21152245 19289846 16873071 16273361 17261762 18821012 19066611 18351453 17440819 19288272 16818667 19200415 19487384
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.5911589617
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8119066611
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7716705839
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 4.7716217749 11135700 14691202 15553829 15073043
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.7716924424
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.2519014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.3512490120
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8417572228
MESH:D002386 Cataract Trinitrotoluene 4.0014694615 15817613
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.186135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.1820889678
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7820734317
MESH:D002779 Cholestasis Ethinyl Estradiol 8.3317110522 16919318 17333356 17681005 15861022 16105132 11677210
MESH:D002779 Cholestasis pirinixic acid 8.3319176532
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Trinitrotoluene 4.6115095906
MESH:D023903 Coronary Restenosis arsenic trioxide 4.4712609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.7610525206
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.768888407 16575769 17688650
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.2718551238
MESH:D003490 Cyanosis Trinitrotoluene 12.2718551238
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.3615213294
MESH:D003711 Demyelinating Diseases Tamoxifen 4.6719031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5218249437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6919279558
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.7318551238 21346803
MESH:D056486 Drug-Induced Liver Injury Trinitrotoluene 6.7318551238 21346803
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 6.731733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.311851702
MESH:D004487 Edema pirinixic acid 2.7212083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.9012538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.9019031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1919155303 17893378 16202921 20544844
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.4617275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.293922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0420417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.806254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.607750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.403659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6320426865
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.6312903497
MESH:D005234 Fatty Liver arsenic trioxide 27.4515073043
MESH:D005234 Fatty Liver Ethinyl Estradiol 27.4515345470
MESH:D005234 Fatty Liver pirinixic acid 27.4520131406 19236843
MESH:D005234 Fatty Liver Tamoxifen 27.4519224547 14986274
MESH:D005234 Fatty Liver Valproic Acid 27.4514986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3716709447
MESH:D005315 Fetal Diseases Valproic Acid 5.2616575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.418888407 18558336
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.8714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5219069698
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.5416904648
MESH:D006333 Heart Failure pirinixic acid 2.6720558911
MESH:D006529 Hepatomegaly pirinixic acid 9.7916221962 19772884 19176532 18467677
MESH:D006529 Hepatomegaly Trinitrotoluene 9.7915817613
MESH:D006849 Hydrocephalus Valproic Acid 5.2017688650
MESH:D006943 Hyperglycemia pirinixic acid 3.4120558911
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.4117937319
MESH:D007248 Infertility, Male Trinitrotoluene 7.4112150543
MESH:D007249 Inflammation Tamoxifen 2.4619457130
MESH:D007333 Insulin Resistance pirinixic acid 2.7816306350
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.0716705839
MESH:D007680 Kidney Neoplasms Tamoxifen 8.0718625569
MESH:D007938 Leukemia arsenic trioxide 2.9315070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.0412560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.6416972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.6014633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.0019077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 4.0316467208 17050201 20471514 19850784 16968895
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 4.0317596541 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.3619035177 16331271 19642359 16966277 17712046 11161223 9834237 19225113 15213294 16330433 16891316 15622746 17107899 12018890 19075265 12679006 11468182 15336539 16112521 17217047 12712474 17869043 16823087 15748426 17649720
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.6316882451
MESH:D008064 Lipidoses Tamoxifen 3.3215342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.3815474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3818564211
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 11.367678174
MESH:D008113 Liver Neoplasms arsenic trioxide 11.3614682389
MESH:D008113 Liver Neoplasms pirinixic acid 11.3620007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tamoxifen 11.3616684651
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.436135515 2876784 2876786
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.4320377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.5315213294
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.6417228818
MESH:D008175 Lung Neoplasms arsenic trioxide 2.5411798837 19825857
MESH:D008175 Lung Neoplasms Tamoxifen 2.5418625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7611731420 19196723 14580682 19196722 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 4.9219453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5215990972
MESH:D008881 Migraine Disorders Valproic Acid 3.3618803445 18765137
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2715949261 19417148 11468182 14977855 19549372
MESH:D009135 Muscular Diseases pirinixic acid 3.8116239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.278888407
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.0518349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 7.8316882451 16105982
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 7.8317596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2219151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1316411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.8318551238 7678174
MESH:D009336 Necrosis Trinitrotoluene 11.8318551238
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.2416624393
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6319393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5819410462
MESH:D009369 Neoplasms pirinixic acid 2.0517405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.3819189210 19200415 19196722
MESH:D009436 Neural Tube Defects arsenic trioxide 7.8210525206
MESH:D009436 Neural Tube Defects Valproic Acid 7.828888407 16359493
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.9916049721
MESH:D009784 Occupational Diseases Trinitrotoluene 9.9917852074 14694615 12819281
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4719769630 12452020 16624393
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5915580305
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D010235 Paraganglioma arsenic trioxide 4.4219927285
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.1720603192
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.1919131511
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1915067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.6515861022 16919318
MESH:D019310 Pseudolymphoma Valproic Acid 4.9212752131 11422049
MESH:D015427 Reperfusion Injury pirinixic acid 2.4919058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.4419155313
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.2416646077
MESH:D012559 Schizophrenia Valproic Acid 2.0915737665 19110320
MESH:D012640 Seizures 2,6-dinitrotoluene 10.8818551238
MESH:D012640 Seizures Trinitrotoluene 10.8818551238
MESH:D012640 Seizures Valproic Acid 10.8814763951 15475178 1511512 16876388 3137016 11738929 11044598 17978042
MESH:D013088 Spermatocele Ethinyl Estradiol 12.8516709447
MESH:D013088 Spermatocele Tamoxifen 12.8516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.3819457130
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9619490988
MESH:D013163 Splenomegaly Trinitrotoluene 5.5115817613
MESH:D013226 Status Epilepticus Valproic Acid 4.9212833885
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.2719014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.3015213294
MESH:D014178 Translocation, Genetic Valproic Acid 5.6117262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.863119515
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.7916049721
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 8.7920435036 11780464 12973940 12845720
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.7916712894 8653321 17572228
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.958888407
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.6610091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7814671159 15869587
Pathway ID Pathway Name
KEGG:04144 Endocytosis
Pharmacogenomics Knowledge Base Top
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  (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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