AutismKB 2.0

Annotation Detail for HERC2


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Basic Information Top
Gene Symbol:HERC2 ( D15F37S1,DKFZp547P028,KIAA0393,SHEP1,jdf2,p528 )
Gene Full Name: hect domain and RLD 2
Band: 15q13.1
Quick LinksEntrez ID:8924; OMIM: 605837; Uniprot ID:HERC2_HUMAN; ENSEMBL ID: ENSG00000128731; HGNC ID: 4868
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04120Ubiquitin mediated proteolysis
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2094Ulcerative colitis
Desease Name
Black vs red hair color
Iris color
IMMUNE
Crohn's, Ulcerative Colitis
VISION
Black vs blond hair color
Desease Name
Eye color traits
Iris color
Black vs. red hair color
Black vs. blond hair color
Desease Name
Skin/hair/eye pigmentation 1, blond/brown hair
Skin/hair/eye pigmentation 1, blue/nonblue eyes
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of HERC2 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of HERC2 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of HERC2 mRNAaffects expression 17562736
C023036 perfluorooctanoic acid perfluorooctanoic acid results in increased expression of HERC2 mRNAincreases expression 17560707
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.7816705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7816705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.783084413
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.036135515
MESH:D003093 Colitis, Ulcerative marker/mechanism 18438405
MESH:D003490 Cyanosis 2,4-dinitrotoluene 12.8318551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.8318551238
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.7218551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.7218551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.7210663392 16081117 19370779 16177239 19164858 17906064 11743745 16109766 12594235 16227642 16485898 19416960 11529661 18071297 12392966 11461765 17562736 11834606 19420014 19739265 10774834 10915739 15619225 12958197 12540782 16781746 16393943 11287661 14550746 14725611 2444490 19085960 19923254 12705907 11739529 14986274 12153990 17522070 18713872 11421492 15968718
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004487 Edema perfluorooctanoic acid 4.0017259670 12083418
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D006529 Hepatomegaly perfluorooctanoic acid 4.653609246
MESH:D006930 Hyperalgesia Acetaminophen 8.9616870215
MESH:D006930 Hyperalgesia perfluorooctanoic acid 8.9612083418
MESH:D007249 Inflammation perfluorooctanoic acid 3.2312083418
MESH:D007674 Kidney Diseases Acetaminophen 2.4015629191 12587719
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.5316705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.5316705839
MESH:D007984 Leydig Cell Tumor perfluorooctanoic acid 5.868812269
MESH:D008107 Liver Diseases Acetaminophen 1.7019460945 11587558 19014921 12587719 12969438 16611625 19784758 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6317185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 5.227678174
MESH:D008113 Liver Neoplasms perfluorooctanoic acid 5.2218709148 14757943
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.772876784 6135515 2876786
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D009336 Necrosis 2,4-dinitrotoluene 12.5418551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 12.547678174 18551238
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D052556 Niemann-Pick Disease, Type C perfluorooctanoic acid 5.519802331
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 10.2312819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 10.2316049721
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D011297 Prenatal Exposure Delayed Effects perfluorooctanoic acid 5.0217132714
MESH:D012640 Seizures 2,4-dinitrotoluene 6.7418551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.7418551238
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.4316049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.4316049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 14.1910091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 14.1910091137
MESH:D014581 Urticaria Acetaminophen 3.4410982225
Pathway ID Pathway Name
KEGG:04120 Ubiquitin mediated proteolysis
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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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