AutismKB 2.0

Annotation Detail for SHANK2


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Basic Information Top
Gene Symbol:SHANK2 ( AUTS17,CORTBP1,CTTNBP1,ProSAP1,SHANK,SPANK-3 )
Gene Full Name: SH3 and multiple ankyrin repeat domains 2
Band: 11q13.3-q13.4
Quick LinksEntrez ID:22941; OMIM: 603290; Uniprot ID:SHAN2_HUMAN; ENSEMBL ID: ENSG00000162105; HGNC ID: 14295
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
P00037Ionotropic glutamate receptor pathway
No data
Related Diseases/Disorders Top
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Desease Name
Autism, susceptibility to, 17
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of SHANK2 proteinaffects expression 20106945
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SHANK2 mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of SHANK2 mRNAdecreases expression 20106945
D016572 Cyclosporine Cyclosporine results in decreased expression of SHANK2 mRNAdecreases expression 20106945
C071834 glycidamide glycidamide results in decreased expression of SHANK2 mRNAdecreases expression 17822822
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of SHANK2 mRNAaffects cotreatment|increases expression 17183730
C475919 hydroxytamoxifen hydroxytamoxifen results in increased expression of SHANK2 mRNAincreases expression 16849584
D005996 Nitroglycerin Nitroglycerin results in increased expression of SHANK2 mRNAincreases expression 12102619
C025299 polyphenols polyphenols results in decreased expression of SHANK2 mRNAdecreases expression 16293270
D012643 Selenium Selenium results in decreased expression of SHANK2 mRNAdecreases expression 19244175
C105686 SU 5402 SU 5402 affects the expression of SHANK2 mRNAaffects expression 15298682
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SHANK2 mRNAincreases expression 20106945
D013755 Tetradecanoylphorbol Acetate [Zinc co-treated with Tetradecanoylphorbol Acetate] affects the expression of SHANK2 mRNAaffects cotreatment|affects expression 16979875
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of SHANK2 mRNAaffects cotreatment|increases expression 17183730
D014810 Vitamin E Vitamin E results in decreased expression of SHANK2 mRNAdecreases expression 19244175
D015032 Zinc [Zinc co-treated with Tetradecanoylphorbol Acetate] affects the expression of SHANK2 mRNAaffects cotreatment|affects expression 16979875
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.3815322242 14514962 11752688
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 8.388875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 3.9319490988
MESH:D000138 Acidosis Ammonium Chloride 3.5818287403
MESH:D000169 Acrodermatitis Zinc 5.4216889938 17190629 17202136
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 1.9820127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.656695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4016835633
MESH:D000544 Alzheimer Disease Zinc 2.7616410023 17119284 16325427 16580781
MESH:D000550 Amblyopia Valproic Acid 5.2617688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9511748828
MESH:D000755 Anemia, Sickle Cell Zinc 4.9116916123
MESH:D001008 Anxiety Disorders Valproic Acid 3.5717497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.0919183758
MESH:D001249 Asthma Zinc 2.9517085522
MESH:D001321 Autistic Disorder marker/mechanism 20473310 20531469
MESH:D001321 Autistic Disorder Valproic Acid 2.0017507914 19460635 18985861 17157402 18558336 20603192 17688650 19232924 18316065 18940202 18177632 16609825 18396377 18775368 15238991
MESH:D001714 Bipolar Disorder Valproic Acid 3.0820046352 17594078
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.0512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.0315746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.038888407
MESH:D001930 Brain Injuries Zinc 4.7017109824
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9017474063 20146248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9020435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 3.9416050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8016835633
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 1.9612619106 21507988 12907637
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 7.6820419170
MESH:D002294 Carcinoma, Squamous Cell Tetradecanoylphorbol Acetate 7.6818922899
MESH:D002294 Carcinoma, Squamous Cell Zinc 7.6816543248
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3716120746 18670907 18850075
MESH:D002318 Cardiovascular Diseases Zinc 3.6616936243
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.5312371664
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7120734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D002779 Cholestasis Cyclosporine 2.9219486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1012621046 16354765 15340226 8697196 15668235
MESH:D003092 Colitis Selenium 3.7917936198
MESH:D003110 Colonic Neoplasms polyphenols 2.6716293270
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0614669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 5.4310048152 15322242 20055451
MESH:D019465 Craniofacial Abnormalities Valproic Acid 5.4316575769 8888407 17688650
MESH:D019465 Craniofacial Abnormalities Vitamin E 5.4319769572
MESH:D019465 Craniofacial Abnormalities Zinc 5.4319302082
MESH:D003920 Diabetes Mellitus Zinc 4.2116479319
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6717107852
MESH:D056486 Drug-Induced Liver Injury polyphenols 9.0319370779
MESH:D056486 Drug-Induced Liver Injury Selenium 9.0315131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.0320420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 9.031733752 19641884
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7611462148
MESH:D004421 Dystonia Valproic Acid 4.061851702
MESH:C538011 Eales disease Vitamin E 4.739068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.9712711302 11000095
MESH:D004487 Edema Tetradecanoylphorbol Acetate 6.9716716910 15177302 11698051 8273558 8113982 7812673 9599246
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.9318230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.029294722 10568697
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.1717275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 3.9516628512 3922381
MESH:D004827 Epilepsy Valproic Acid 2.9420417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.596254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.317750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.083659116
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.6416530937
MESH:D004938 Esophageal Neoplasms Zinc 4.6416543248
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0111564622
MESH:D005234 Fatty Liver Cyclosporine 7.7719224547
MESH:D005234 Fatty Liver Valproic Acid 7.7714986274 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.4711858732
MESH:D005315 Fetal Diseases Valproic Acid 4.9216575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.1418558336 8888407
MESH:D005355 Fibrosis Cyclosporine 8.5312168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.5320067830
MESH:D005756 Gastritis Zinc 4.8317241300
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.248708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6210696789
MESH:D006130 Growth Disorders Zinc 3.9617217573
MESH:D006261 Headache Nitroglycerin 5.2211554966 11284996
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 11.1120471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 11.1110048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 11.1116080930
MESH:D006333 Heart Failure Selenium 7.3517162251
MESH:D006333 Heart Failure Zinc 7.3517162251
MESH:D006335 Heart Injuries Zinc 5.8017074742
MESH:D016481 Helicobacter Infections Zinc 4.5417241300
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.4415720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3411000095
MESH:D006527 Hepatolenticular Degeneration Zinc 4.7017276780
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 2.9116120746 15340226 12621046
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7016490937 16863852
MESH:D019584 Hot Flashes Vitamin E 4.0014716179
MESH:D006849 Hydrocephalus Valproic Acid 4.8917688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.0818606429 8697196 16959395 16354765 15340226
MESH:D006973 Hypertension Cyclosporine 4.9510903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 4.9518850075 18670907
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.6416612254
MESH:D007249 Inflammation polyphenols 8.4716366677
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.4712200463 12878042
MESH:D007249 Inflammation Tetradecanoylphorbol Acetate 8.4711698051 7812673 8273558 15177302 7562506
MESH:D007251 Influenza, Human Selenium 11.0616624496
MESH:D007251 Influenza, Human Vitamin E 11.0616624496
MESH:D007511 Ischemia Zinc 4.6416584753
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3416580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.4715604871
MESH:D007674 Kidney Diseases Cyclosporine 10.178314463 18776723 10903974
MESH:D007674 Kidney Diseases Vitamin E 10.1712488133
MESH:D007674 Kidney Diseases Zinc 10.1716960431
MESH:D007676 Kidney Failure, Chronic Selenium 10.1016518626
MESH:D007676 Kidney Failure, Chronic Zinc 10.1016518626
MESH:D007680 Kidney Neoplasms Cyclosporine 2.7412371664
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1516294345 17596541
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3412878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.3416169303
MESH:D008107 Liver Diseases polyphenols 2.7816698588
MESH:D008113 Liver Neoplasms Aflatoxin B1 7.3915890375 18177683 9163691 2125692
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.3921137059 20195826
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.3916984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 5.818603461
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.8112151625
MESH:D008171 Lung Diseases Vitamin E 3.1816863852
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.2917228818
MESH:D008175 Lung Neoplasms Aflatoxin B1 6.6014755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 6.6020464547 20135361 18569708 6695378 20064080 20869020 18520028 18816296 17053015
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 6.6011884234 19555203
MESH:D008175 Lung Neoplasms Tetradecanoylphorbol Acetate 6.6011807781
MESH:D008175 Lung Neoplasms Vitamin E 6.6011062179
MESH:D008325 Mammary Neoplasms, Experimental Selenium 10.1715318939
MESH:D008325 Mammary Neoplasms, Experimental Tetradecanoylphorbol Acetate 10.178985016
MESH:D008325 Mammary Neoplasms, Experimental Zinc 10.1712773700
MESH:D008607 Mental Retardation marker/mechanism 20473310
MESH:D008654 Mesothelioma Selenium 2.7915107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.8216801185
MESH:D008708 Methemoglobinemia Nitroglycerin 4.743537620
MESH:D008881 Migraine Disorders Valproic Acid 3.1918803445 18765137
MESH:D020326 Migraine without Aura Nitroglycerin 5.1314659530
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.1916381670
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.038888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.1517596541
MESH:D009203 Myocardial Infarction Nitroglycerin 3.7814729435
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0212213967
MESH:D009369 Neoplasms Benzo(a)pyrene 2.1711141357
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.4717954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2919348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.2214600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.1316359493 8888407
MESH:D010190 Pancreatic Neoplasms Tetradecanoylphorbol Acetate 3.1315976015
MESH:D010212 Papilloma Tetradecanoylphorbol Acetate 4.3112065085 18404319 18922899 8330346
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.2812520081
MESH:D010954 Plasmacytoma Selenium 4.9215087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5718163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.2212371664
MESH:D011225 Pre-Eclampsia Zinc 4.1817114810
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.5311399792 11896295 11222880 11118676
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 9.5320603192
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.6317292933
MESH:D011471 Prostatic Neoplasms Vitamin E 2.6315084515
MESH:D011471 Prostatic Neoplasms Zinc 2.6312429649 16700911 16517595 16606632
MESH:D019310 Pseudolymphoma Valproic Acid 4.5711422049 12752131
MESH:D011565 Psoriasis Cyclosporine 2.2316882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8518990726
MESH:D012162 Retinal Degeneration Zinc 4.1316584753
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.1819155313
MESH:D012559 Schizophrenia Valproic Acid 2.0719110320 15737665
MESH:D012640 Seizures Valproic Acid 2.7411738929 17978042 14763951 16876388 1511512 11044598 15475178 3137016
MESH:D012871 Skin Diseases Vitamin E 2.4418709164
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 9.4819755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.4816192470
MESH:D012878 Skin Neoplasms Tetradecanoylphorbol Acetate 9.488985016 8330346 11807781 12065085 18404319
MESH:D016135 Spinal Dysraphism Valproic Acid 3.7819490988
MESH:D013226 Status Epilepticus Valproic Acid 4.5712833885
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D020521 Stroke Vitamin E 3.5216517955
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.2817997062
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.9312697716
MESH:D014062 Tongue Neoplasms Zinc 4.4016543248
MESH:D014178 Translocation, Genetic Valproic Acid 5.2617262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.543119515
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.1817053015
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.668888407
MESH:D014605 Uveitis Cyclosporine 4.011336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.2815886252
MESH:D014985 Xerophthalmia Cyclosporine 4.4717120751
Pathway ID Pathway Name
KEGG:04724 Glutamatergic synapse
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA37867
    • No data
    Releated disease ID Related disease Name
    PA153906318Autism Spectrum Disorder
    No data
    Drug Bank 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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