AutismKB 2.0

Annotation Detail for EXTL2


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Basic Information Top
Gene Symbol:EXTL2 ( EXTR2 )
Gene Full Name: exostoses (multiple)-like 2
Band: 1p21.2
Quick LinksEntrez ID:2135; OMIM: 602411; Uniprot ID:EXTL2_HUMAN; ENSEMBL ID: ENSG00000162694; HGNC ID: 3516
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-6564heparan sulfate biosynthesis
PWY-6558heparan sulfate biosynthesis (late stages)
Pathway IDPathway Name
hsa00534Glycosaminoglycan biosynthesis - heparan sulfate
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
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 EXTL2 mRNAdecreases expression 20018196
D016572 Cyclosporine Cyclosporine results in decreased expression of EXTL2 mRNAdecreases expression 20106945
D008942 Mitoxantrone EXTL2 protein affects the susceptibility to Mitoxantroneaffects response to substance 16217747
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of EXTL2 mRNAaffects binding|decreases expression|increases activity 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5818653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.1116434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5719483382
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.4420889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.4412371664
MESH:D002779 Cholestasis Cyclosporine 8.7419486331
MESH:D002779 Cholestasis pirinixic acid 8.7419176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D004487 Edema pirinixic acid 2.9012083418
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1520426865
MESH:D005234 Fatty Liver Cyclosporine 9.0119224547
MESH:D005234 Fatty Liver pirinixic acid 9.0120131406 19236843
MESH:D005355 Fibrosis Cyclosporine 3.7012168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.858708960
MESH:D006331 Heart Diseases Mitoxantrone 4.4116019553
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.0515720958
MESH:D006529 Hepatomegaly pirinixic acid 3.5516221962 18467677 19176532 19772884
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D006973 Hypertension Cyclosporine 2.2110903974
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.1615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.548314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0812371664
MESH:D015451 Leukemia, Lymphocytic, Chronic, B-Cell Mitoxantrone 3.9218172266
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9320007298 15890375 16377806
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:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2516411023
MESH:D009369 Neoplasms Mitoxantrone 5.8516640825
MESH:D009369 Neoplasms pirinixic acid 5.8517405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.1617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6518481113 19348381
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D011230 Precancerous Conditions Cyclosporine 3.5912371664
MESH:D011565 Psoriasis Cyclosporine 2.3316882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D014605 Uveitis Cyclosporine 4.711336536
MESH:D014985 Xerophthalmia Cyclosporine 5.1617120751
Pathway ID Pathway Name
KEGG:00534 Glycosaminoglycan biosynthesis - heparan sulfate
KEGG:01100 Metabolic pathways
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB02196 - Uridine-Diphosphate-N-Acetylgalactosamine
DB03397 - Uridine-Diphosphate-N-Acetylglucosamine
DB03435 - Uridine-5'-Diphosphate
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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


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