AutismKB 2.0

Annotation Detail for SMAP2


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Basic Information Top
Gene Symbol:SMAP2 ( RP1-228H13.3,SMAP1L )
Gene Full Name: small ArfGAP2
Band: 1p34.2
Quick LinksEntrez ID:64744; OMIM: NA; Uniprot ID:SMAP2_HUMAN; ENSEMBL ID: ENSG00000084070; HGNC ID: 25082
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of SMAP2 mRNAaffects expression 17562736
D016572 Cyclosporine Cyclosporine results in decreased expression of SMAP2 mRNAdecreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of SMAP2 mRNAaffects binding|increases activity|increases expression 19710929
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SMAP2 mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4715322242 14514962 11752688
MESH:D055371 Acute Lung Injury pirinixic acid 3.5818653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 12.1016434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 12.1016835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.2219483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.2212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5616120746 18850075 18670907
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7912371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002779 Cholestasis Cyclosporine 8.7419486331
MESH:D002779 Cholestasis pirinixic acid 8.7419176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2415668235 15340226 8697196 12621046 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.8612705907 11743745 12392966 19420014 15968718 11461765 15619225 11739529 16109766 16485898 16781746 18713872 16177239 19416960 16081117 11529661 10774834 12153990 12958197 12540782 14725611 11287661 11834606 19164858 14986274 12594235 17522070 18071297 11421492 19370779 19085960 10663392 16227642 16393943 2444490 19739265 19923254 17562736 10915739 14550746 17906064
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8620420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004487 Edema pirinixic acid 7.9712083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.9712711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6218230668 16714409 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.429294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005234 Fatty Liver Cyclosporine 9.0119224547
MESH:D005234 Fatty Liver pirinixic acid 9.0119236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Cyclosporine 10.4212168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.4220067830
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.858708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5111294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.0515720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly pirinixic acid 10.1919772884 18467677 16221962 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 10.1915340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.778697196 16354765 18606429 15340226 16959395
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D006973 Hypertension Cyclosporine 5.3510903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3518850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.1615604871
MESH:D007674 Kidney Diseases Acetaminophen 6.4812587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.488314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0812371664
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2315474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2312878042
MESH:D008107 Liver Diseases Acetaminophen 1.7016610002 19460945 16611625 12969438 11587558 19014921 19784758 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6317185352 16871587
MESH:D008113 Liver Neoplasms pirinixic acid 4.6516377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6516984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3312151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.5116801185
MESH:D009135 Muscular Diseases pirinixic acid 4.0716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2719151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2516411023
MESH:D009369 Neoplasms pirinixic acid 2.1117405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.1617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6519348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5912371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211896295 11222880 11118676 11399792
MESH:D011565 Psoriasis Cyclosporine 2.3316882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D014581 Urticaria Acetaminophen 3.4410982225
MESH:D014605 Uveitis Cyclosporine 4.711336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
MESH:D014985 Xerophthalmia Cyclosporine 5.1617120751
Pathway ID Pathway Name
KEGG:04144 Endocytosis
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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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