AutismKB 2.0

Annotation Detail for SGMS2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SGMS2 ( MGC26963,SMS2 )
Gene Full Name: sphingomyelin synthase 2
Band: 4q25
Quick LinksEntrez ID:166929; OMIM: 611574; Uniprot ID:SMS2_HUMAN; ENSEMBL ID: ENSG00000164023; HGNC ID: 28395
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY3DJ-11281sphingomyelin metabolism
Pathway IDPathway Name
hsa00600Sphingolipid metabolism
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of lipids and lipoproteins
No data
No data
Pathway IDPathway Name
500824Sphingolipid metabolism
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of SGMS2 mRNAaffects expression 17562736
D017638 Asbestos, Crocidolite Asbestos, Crocidolite results in increased expression of SGMS2 mRNAincreases expression 18687144
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 SGMS2 mRNAdecreases expression 19150397
D016572 Cyclosporine Cyclosporine results in increased expression of SGMS2 mRNAincreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of SGMS2 mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of SGMS2 mRNAaffects binding|increases activity|increases expression 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.3520889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.3512371664
MESH:D002779 Cholestasis Cyclosporine 8.6319486331
MESH:D002779 Cholestasis pirinixic acid 8.6319176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6616393943 19416960 11743745 16781746 12153990 11461765 12540782 16109766 11739529 11287661 19164858 18071297 19085960 17906064 19420014 16081117 14986274 18713872 12594235 10663392 10774834 19739265 12958197 10915739 2444490 12705907 14550746 14725611 11421492 16177239 17522070 15619225 19370779 11834606 17562736 11529661 15968718 16485898 19923254 12392966 16227642
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1420426865
MESH:D005234 Fatty Liver Cyclosporine 8.8219224547
MESH:D005234 Fatty Liver pirinixic acid 8.8219236843 20131406
MESH:D005355 Fibrosis Cyclosporine 3.6212639820 12168785
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006529 Hepatomegaly pirinixic acid 3.4819176532 16221962 19772884 18467677
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D006973 Hypertension Cyclosporine 2.2010903974
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Acetaminophen 6.4112587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.4118776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0412371664
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.6919784758 12969438 11587558 16611625 19460945 19014921 12587719 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5816871587 17185352
MESH:D008113 Liver Neoplasms pirinixic acid 1.9215890375 16377806 20007298
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.5017365036
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.3016966607 16166281 18303189
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6118481113 19348381
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.3810923243
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.1417365031 17322281 17975199 15814490
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
REACT:22258 Metabolism of lipids and lipoproteins
KEGG:00600 Sphingolipid metabolism
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00122 - Choline Dietary supplement;Micronutrient;Nootropic Agents;Lipotropic Agents
No data
No data
No data

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