AutismKB 2.0

Annotation Detail for RAPGEF2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RAPGEF2 ( CNrasGEF,NRAPGEP,PDZ-GEF1,PDZGEF1,RA-GEF,Rap-GEP,nRap GEP )
Gene Full Name: Rap guanine nucleotide exchange factor (GEF) 2
Band: 4q32.1
Quick LinksEntrez ID:9693; OMIM: 609530; Uniprot ID:RPGF2_HUMAN; ENSEMBL ID: ENSG00000109756; HGNC ID: 16854
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04010MAPK signaling pathway
No data
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of RAPGEF2 mRNAaffects expression 17562736
D016718 Arachidonic Acid Arachidonic Acid results in increased expression of RAPGEF2 mRNAincreases expression 16704987
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 RAPGEF2 mRNAdecreases expression 19150397
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased expression of RAPGEF2 mRNAincreases expression 15336504
D009151 Mustard Gas Mustard Gas affects the expression of RAPGEF2 mRNAaffects expression 15651846
D013654 Taurine Taurine results in decreased expression of RAPGEF2 mRNAdecreases expression 16579726
C004648 testosterone enanthate testosterone enanthate affects the expression of RAPGEF2 mRNAaffects expression 17440010
C034613 triacsin C triacsin C results in increased expression of RAPGEF2 mRNAincreases expression 16704987
D014810 Vitamin E Vitamin E results in decreased expression of RAPGEF2 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D001249 Asthma Mustard Gas 2.7610378619
MESH:D001321 Autistic Disorder Acetaminophen 2.2318445737
MESH:D001321 Autistic Disorder Arachidonic Acid 2.2318582451
MESH:D001768 Blister Mustard Gas 5.4419167455
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.4415286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.2917687719 10378619
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1916050911
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.393084413
MESH:D002386 Cataract Acetaminophen 2.6910977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.8620889678
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9219769572
MESH:D058065 Diabetic Cardiomyopathies Taurine 6.3416025228
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.4716485898 16781746 10663392 14986274 15619225 19739265 10774834 14725611 19085960 17906064 17522070 11529661 15968718 12705907 16109766 11739529 17562736 19416960 19923254 14550746 2444490 11834606 16393943 12540782 19370779 12958197 18713872 18071297 19420014 11743745 12392966 10915739 11421492 16227642 16081117 11461765 19164858 11287661 16177239 12153990 12594235
MESH:D056486 Drug-Induced Liver Injury Taurine 4.479328219
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:C538011 Eales disease Vitamin E 5.029068938
MESH:D004487 Edema Arachidonic Acid 8.1411698051 9599246 9831321 7990266 16716910 15177302
MESH:D004487 Edema Mustard Gas 8.149260866 11428647 11428631 11402378
MESH:D004890 Erythema Mustard Gas 5.449357497
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1120426865
MESH:D005334 Fever Arachidonic Acid 4.8511852909
MESH:D005756 Gastritis Acetaminophen 3.9916983495
MESH:D006330 Heart Defects, Congenital Vitamin E 3.0816080930
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7616490937 16863852
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.0617440010
MESH:D019584 Hot Flashes Vitamin E 4.2914716179
MESH:D006930 Hyperalgesia Acetaminophen 2.8616870215
MESH:D007249 Inflammation Arachidonic Acid 5.9817371808 9831321 15177302
MESH:D007249 Inflammation Mustard Gas 5.9811428647 17524151 9357497 11428620 16001271 9260866 11402378 11428631 8975870
MESH:D007251 Influenza, Human Vitamin E 4.5316624496
MESH:D007674 Kidney Diseases Acetaminophen 6.3315629191 12587719
MESH:D007674 Kidney Diseases Vitamin E 6.3312488133
MESH:D008106 Liver Cirrhosis, Experimental Taurine 3.1415931870 15893842
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.1416169303
MESH:D008107 Liver Diseases Acetaminophen 1.6719460945 11587558 19014921 16611625 19784758 16610002 12969438 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4317185352 16871587
MESH:D008171 Lung Diseases Mustard Gas 7.9918702808 18161513
MESH:D008171 Lung Diseases Vitamin E 7.9916863852
MESH:D008175 Lung Neoplasms Mustard Gas 2.708781369 3148597
MESH:D008175 Lung Neoplasms Vitamin E 2.7011062179
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0418514411
MESH:D009503 Neutropenia Mustard Gas 4.1916761898 7688884
MESH:D010146 Pain Acetaminophen 2.5616870215
MESH:D011041 Poisoning Mustard Gas 4.0215727166
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2715084515
MESH:D011537 Pruritus Mustard Gas 4.3818058305
MESH:D011658 Pulmonary Fibrosis Mustard Gas 2.9917266442 17620002 10334151 17720292 17894541
MESH:D012871 Skin Diseases Mustard Gas 5.1816961503 12880345 15451306
MESH:D012871 Skin Diseases Vitamin E 5.1818709164
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.778532709
MESH:D020521 Stroke Vitamin E 3.6816517955
MESH:D014581 Urticaria Acetaminophen 3.2010982225
Pathway ID Pathway Name
KEGG:04010 MAPK signaling pathway
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