AutismKB 2.0

Annotation Detail for SEPT2


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Basic Information Top
Gene Symbol:SEPT2 ( DIFF6,KIAA0158,NEDD5,Pnutl3,hNedd5 )
Gene Full Name: septin 2
Band: 2q37.3
Quick LinksEntrez ID:4735; OMIM: 601506; Uniprot ID:SEPT2_HUMAN; ENSEMBL ID: ENSG00000168385; HGNC ID: 7729
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200057CDC42 signaling events
Pathway IDPathway Name
P00049Parkinson disease
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1860Brain tumor
2146Lupus erythematosus
No data
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of SEPT2 mRNAdecreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of SEPT2 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SEPT2 mRNAaffects expression 16483693
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 SEPT2 mRNAdecreases expression 20018196
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of SEPT2 mRNAdecreases expression 15336504
D004610 Ellagic Acid Ellagic Acid results in increased expression of SEPT2 mRNAincreases expression 12002526
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of SEPT2 mRNAaffects cotreatment|increases expression 17183730
C027185 indirubin indirubin results in decreased expression of SEPT2 mRNAdecreases expression 15056799
D007657 Ketone Bodies Ketone Bodies results in decreased expression of SEPT2 mRNAdecreases expression 16807920
D015741 Metribolone Metribolone results in increased expression of SEPT2 proteinincreases expression 17152098
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of SEPT2 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.688875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.0719490988
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.833712494
MESH:D000550 Amblyopia Valproic Acid 5.4517688650
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.6817497229
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8618558336 18940202 17688650 18177632 17507914 20603192 18985861 16609825 18316065 19232924 17157402 19460635 18775368 15238991 18396377
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.241440618 11289319
MESH:D001714 Bipolar Disorder Valproic Acid 3.1420046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.498888407
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 2.877296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.873084413
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.737296757
MESH:D002386 Cataract Acetaminophen 2.6610977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 6.967505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 6.9620889678
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7520734317
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.2519486331 9022650
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9017688650 16575769 8888407
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.978156756 14531868 12868966 2524372 11298694 8970840 11906362 18759878
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.643621924 2952479
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.4216192314 7440962 9653073 18692083 8291058 9328219 6482804 6679447 9022650 18289764 1440618 11289319 18648102
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.4219416960 15619225 12594235 11834606 19739265 16109766 11287661 17522070 16393943 15968718 17906064 12392966 18713872 11421492 11739529 16227642 10663392 16081117 11743745 14725611 11461765 16177239 12153990 19085960 19420014 14986274 12540782 12958197 19923254 12705907 18071297 10774834 11529661 16781746 19370779 2444490 17562736 10915739 19164858 16485898 14550746
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 6.421733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3219426721
MESH:D004421 Dystonia Valproic Acid 4.201851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.3317275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.1316628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0020417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.716254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.477750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.263659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.493581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.4920426865
MESH:D005234 Fatty Liver Valproic Acid 3.4414986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.1016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.298888407 18558336
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.246705139
MESH:D005756 Gastritis Acetaminophen 3.8916983495
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.197505956
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.676705139
MESH:D006849 Hydrocephalus Valproic Acid 5.0617688650
MESH:D006930 Hyperalgesia Acetaminophen 2.8116870215
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.1115034207
MESH:D006968 Hypersensitivity, Delayed indirubin 6.1511275354
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.8016612254
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.249022650 8074119
MESH:D007674 Kidney Diseases Acetaminophen 2.2712587719 15629191
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.086582329
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1717596541 16294345
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.2815034207 9327722
MESH:D008107 Liver Diseases Acetaminophen 1.6619460945 19014921 12969438 11587558 19784758 12587719 16611625 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3717185352 16871587
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.616587162 1399818 598648 3712494
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.4817228818
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D008881 Migraine Disorders Valproic Acid 3.2918765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.178888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2317596541
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.523581430
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 7.556679447
MESH:D009436 Neural Tube Defects Valproic Acid 7.5516359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9918514411
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.554026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.243988306
MESH:D010146 Pain Acetaminophen 2.5016870215
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.667296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.696228378
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.0220603192
MESH:D019310 Pseudolymphoma Valproic Acid 4.7612752131 11422049
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.483692021
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3219155313
MESH:D012559 Schizophrenia Valproic Acid 2.0815737665 19110320
MESH:D012640 Seizures Valproic Acid 2.8317978042 1511512 16876388 3137016 11738929 14763951 15475178 11044598
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.758532709
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8919490988
MESH:D013226 Status Epilepticus Valproic Acid 4.7612833885
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 2.996582329 3712494 1399818 7505956 6587162
MESH:D014178 Translocation, Genetic Valproic Acid 5.4517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.713119515
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.328074119
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.828888407
MESH:D014581 Urticaria Acetaminophen 3.1210982225
No data
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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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