AutismKB 2.0

Annotation Detail for PTCH2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PTCH2 ( PTC2 )
Gene Full Name: patched 2
Band: 1p34.1
Quick LinksEntrez ID:8643; OMIM: 603673; Uniprot ID:PTC2_HUMAN; ENSEMBL ID: ENSG00000117425; HGNC ID: 9586
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04340Hedgehog signaling pathway
hsa05217Basal cell carcinoma
hsa05200Pathways in cancer
Pathway IDPathway Name
Signaling by GPCR
Pathway IDPathway Name
200144Signaling events mediated by the Hedgehog family
No data
No data
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Basal cell carcinoma, somatic
Medulloblastoma
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of PTCH2 mRNAaffects expression 17562736
C000541 cyclopamine cyclopamine results in decreased expression of PTCH2 mRNAdecreases expression 16580747
D009151 Mustard Gas Mustard Gas results in decreased expression of PTCH2 mRNAdecreases expression 15674843
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PTCH2 mRNAdecreases expression 17586704
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4714514962 15322242 11752688
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.0116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001249 Asthma Mustard Gas 2.8010378619
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001768 Blister Mustard Gas 5.7919167455
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.7915286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.7017687719 10378619
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D002280 Carcinoma, Basal Cell marker/mechanism
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5618670907 18850075 16120746
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2416354765 8697196 15668235 15340226 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.8611421492 12540782 11461765 12392966 18071297 12153990 14986274 14550746 19085960 11743745 19416960 11529661 11834606 19420014 16485898 11287661 10774834 19164858 16227642 10663392 16177239 2444490 15968718 10915739 16109766 11739529 19739265 19923254 14725611 15619225 16081117 17906064 16781746 18713872 12958197 12594235 17562736 12705907 19370779 17522070 16393943
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 Mustard Gas 8.2811428631 9260866 11402378 11428647
MESH:D004487 Edema Tetrachlorodibenzodioxin 8.2812711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6215322242 16714409 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4210568697 9294722
MESH:D004890 Erythema Mustard Gas 5.799357497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.5120067830
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5110048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.4515340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.778697196 15340226 16959395 18606429 16354765
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218670907 18850075
MESH:D007249 Inflammation Mustard Gas 5.6511428620 11428647 8975870 16001271 17524151 9357497 9260866 11428631 11402378
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.6512878042 12200463
MESH:D007569 Jaw Abnormalities cyclopamine 12.4516580747
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 12.4516580747
MESH:D007674 Kidney Diseases Acetaminophen 2.4015629191 12587719
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Acetaminophen 1.7019460945 16611625 12969438 19784758 19014921 16610002 12587719 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6317185352 16871587
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8316984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3312151625
MESH:D008171 Lung Diseases Mustard Gas 3.7018161513 18702808
MESH:D008175 Lung Neoplasms Mustard Gas 2.493148597 8781369
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.4911884234 19555203
MESH:D008527 Medulloblastoma marker/mechanism
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D009503 Neutropenia Mustard Gas 4.437688884 16761898
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D011041 Poisoning Mustard Gas 4.2615727166
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211896295 11222880 11118676 11399792
MESH:D011537 Pruritus Mustard Gas 4.7218058305
MESH:D011658 Pulmonary Fibrosis Mustard Gas 3.0510334151 17266442 17720292 17894541 17620002
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012871 Skin Diseases Mustard Gas 2.7915451306 12880345 16961503
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D014581 Urticaria Acetaminophen 3.4410982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
Pathway ID Pathway Name
KEGG:05217 Basal cell carcinoma
KEGG:04340 Hedgehog signaling pathway
KEGG:05200 Pathways in cancer
REACT:14797 Signaling by GPCR
Pharmacogenomics Knowledge Base Top
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