AutismKB 2.0

Annotation Detail for CNTNAP2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CNTNAP2 ( AUTS15,CASPR2,CDFE,DKFZp781D1846,NRXN4,PTHSL1 )
Gene Full Name: contactin associated protein-like 2
Band: 7q35-q36.1
Quick LinksEntrez ID:26047; OMIM: 604569; Uniprot ID:CNTP2_HUMAN; ENSEMBL ID: ENSG00000174469; HGNC ID: 13830
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04514Cell adhesion molecules (CAMs)
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1765Gilles de la Tourette syndrome
1799Epilepsy
2124Autistic disorder
2185Obsessive-compulsive disorder
2221Behavior disease
Desease Name
Bone Mineral Density
METABOLIC
Desease Name
Biplolar disorder and schizophrenia
Bone mineral density
Desease Name
Pitt-Hopkins like syndrome 1
Autism, susceptibility to, 15
Cortical dysplasia-focal epilepsy syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in decreased expression of CNTNAP2 mRNAdecreases expression 16788091
D002945 Cisplatin CNTNAP2 protein affects the susceptibility to Cisplatinaffects response to substance 16217747
D004041 Dietary Fats Dietary Fats results in increased expression of CNTNAP2 mRNAincreases expression 18042831
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CNTNAP2 mRNAaffects cotreatment|increases expression 17942748
C041786 palm oil palm oil results in increased expression of CNTNAP2 mRNAincreases expression 18042831
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CNTNAP2 mRNAaffects cotreatment|increases expression 17942748
C024746 tobacco tar tobacco tar results in decreased expression of CNTNAP2 mRNAdecreases expression 19559774
D014635 Valproic Acid Valproic Acid results in increased expression of CNTNAP2 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.4615322242 11752688 14514962
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.468875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1719490988
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D058186 Acute Kidney Injury Cisplatin 4.2017670903 15814532 12690470
MESH:D000230 Adenocarcinoma Cisplatin 4.6311798837 17638652
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.6314692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D000550 Amblyopia Valproic Acid 5.6117688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D001008 Anxiety Disorders Valproic Acid 3.7617497229
MESH:D001161 Arteriosclerosis Dietary Fats 10.9515238619
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 10.9511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001321 Autistic Disorder marker/mechanism 18179894 21310003 18621663
MESH:D001321 Autistic Disorder Valproic Acid 1.9918316065 18558336 17157402 18985861 17507914 19460635 17688650 18940202 18396377 15238991 16609825 18177632 18775368 19232924 20603192
MESH:D001714 Bipolar Disorder Valproic Acid 3.1820046352 17594078
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.5015746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.508888407
MESH:D019046 Bone Marrow Neoplasms Cisplatin 5.2614601052
MESH:D001943 Breast Neoplasms Cisplatin 1.9119526202 18382427
MESH:D001943 Breast Neoplasms Dietary Fats 1.9120435547
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9120435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006528 Carcinoma, Hepatocellular Cisplatin 2.4417982673
MESH:D002289 Carcinoma, Non-Small-Cell Lung Cisplatin 3.1012023789 16685392
MESH:D002294 Carcinoma, Squamous Cell Cisplatin 2.8717066447 18337622 6189445
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic tobacco tar 4.1019559774
MESH:D002659 Child Development Disorders, Pervasive marker/mechanism 21082657 21572417
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7820734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0511677210 17681005 17110522 16919318 16105132 17333356 15861022
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1915340226 15668235 12621046 16354765 8697196
MESH:D015179 Colorectal Neoplasms Cisplatin 2.3315273666
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
OMIM:610042 CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME marker/mechanism
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5315322242 10048152 20055451
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.538888407 17688650 16575769
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9720420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 3.971733752 19641884
MESH:D004362 Drug Toxicity Cisplatin 8.7712649298 19839026 12231392 15033597
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 8.7711462148
MESH:D050171 Dyslipidemias Dietary Fats 3.6218367378
MESH:D004421 Dystonia Valproic Acid 4.311851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2816714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.463659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.293922381 16628512
MESH:D004827 Epilepsy marker/mechanism 20502679
MESH:D004827 Epilepsy Valproic Acid 3.0418234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.807562514 6426943 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.607750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.403659116
MESH:D004938 Esophageal Neoplasms Cisplatin 2.8317638652 15464296 16785472 15173087 16481741
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Dietary Fats 14.5818296743 19004024 17967931 19551842
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.5815345470
MESH:D005234 Fatty Liver Valproic Acid 14.5814986274 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005315 Fetal Diseases Valproic Acid 5.2616575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.418888407 18558336
MESH:D005355 Fibrosis Dietary Fats 9.6618296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.6620067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006258 Head and Neck Neoplasms Cisplatin 3.8715102660 15464296
MESH:D034381 Hearing Loss Cisplatin 4.5119898482
MESH:D006319 Hearing Loss, Sensorineural Cisplatin 4.6215464296
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4410048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2015340226 16120746 12621046
MESH:D006689 Hodgkin Disease Cisplatin 3.8016170182 16200630
MESH:D006849 Hydrocephalus Valproic Acid 5.2017688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4218606429 16959395 16354765 8697196 15340226
MESH:D006937 Hypercholesterolemia Dietary Fats 3.8321332399
MESH:D006949 Hyperlipidemias Dietary Fats 3.8721332399
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6417937319
MESH:D007249 Inflammation Dietary Fats 5.2920412841
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2912200463 12878042
MESH:D007333 Insulin Resistance Dietary Fats 3.2511836018 18457598
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007673 Kidney Cortex Necrosis Cisplatin 5.5215464296
MESH:D007674 Kidney Diseases Cisplatin 3.3618289764 12649298 19839026 15190930 12231392
MESH:D007683 Kidney Tubular Necrosis, Acute Cisplatin 5.1711231351
MESH:D007805 Language Development Disorders marker/mechanism 21082657 21310003
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1816294345 17596541
MESH:D008103 Liver Cirrhosis Dietary Fats 2.9918296743
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.7916984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2412151625
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.6417228818
MESH:D008175 Lung Neoplasms Cisplatin 2.526189445 11798837 17225452
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.5219555203 11884234
MESH:D008545 Melanoma Cisplatin 2.5015577323 12393984 18505091 16432458 16248763 12374674 17761969 18176117 16809738 12883367 17023156 18332650 11135225
MESH:D018328 Melanoma, Amelanotic Cisplatin 5.1115990972
MESH:D008654 Mesothelioma Cisplatin 3.3217638057
MESH:D008881 Migraine Disorders Valproic Acid 3.3618765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.278888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2817596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D009369 Neoplasms Cisplatin 3.0416773208
MESH:D009395 Nephritis, Interstitial Cisplatin 4.8715464296
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.2716359493 8888407
MESH:D009447 Neuroblastoma Cisplatin 3.568761367
MESH:D017599 Neuroectodermal Tumors Cisplatin 5.038761367
MESH:D009765 Obesity Dietary Fats 2.3317217161 16723640 19632207 18457598 21332399 20518802 11836018 18674790 20132043
MESH:D010051 Ovarian Neoplasms Cisplatin 2.9319769630 17225452 15464296 6897625
MESH:D010190 Pancreatic Neoplasms Cisplatin 3.0619003803
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D010523 Peripheral Nervous System Diseases Cisplatin 4.5915464296
MESH:D010997 Pleural Neoplasms Cisplatin 5.7217638057
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.6111118676 11399792 11896295 11222880
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 10.6120603192
MESH:D011537 Pruritus Ethinyl Estradiol 3.6515861022 16919318
MESH:D019310 Pseudolymphoma Valproic Acid 4.9212752131 11422049
MESH:D051437 Renal Insufficiency Cisplatin 4.7115464296
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.4419155313
MESH:D012512 Sarcoma, Ewing's Cisplatin 4.7114601052
MESH:D012559 Schizophrenia Valproic Acid 2.0915737665 19110320
MESH:D012640 Seizures Valproic Acid 2.8911044598 11738929 1511512 15475178 3137016 17978042 14763951 16876388
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D055752 Small Cell Lung Carcinoma Cisplatin 5.7215464296
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3216709447
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9619490988
MESH:D013226 Status Epilepticus Valproic Acid 4.9212833885
MESH:D013274 Stomach Neoplasms Cisplatin 2.3317522103 18396642 15958060
MESH:D013342 Stuttering marker/mechanism 21108403
MESH:D013736 Testicular Neoplasms Cisplatin 4.8915464296 17225452
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D014178 Translocation, Genetic Valproic Acid 5.6117262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.863119515
MESH:D001749 Urinary Bladder Neoplasms Cisplatin 3.0215464296 17225452 12973940
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.958888407
MESH:D002583 Uterine Cervical Neoplasms Cisplatin 4.4316803524
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D014625 Vaginal Neoplasms Cisplatin 4.9215577323
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7814671159 15869587
MESH:D014839 Vomiting Cisplatin 5.0911897121
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
MESH:D015430 Weight Gain Dietary Fats 3.9516723640
Pathway ID Pathway Name
KEGG:04514 Cell adhesion molecules (CAMs)
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26692
    • Releated gene ID Related gene Name
    PA28242FOXP2
    Releated disease ID Related disease Name
    PA444714Language Disorders
    PA447198Autistic Disorder
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    PA153906318Autism Spectrum Disorder
    No data
    Drug Bank Top

    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


    Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved