AutismKB 2.0

Annotation Detail for EN2


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Basic Information Top
Gene Symbol:EN2 ( - )
Gene Full Name: engrailed homeobox 2
Band: 7q36.3
Quick LinksEntrez ID:2020; OMIM: 131310; Uniprot ID:HME2_HUMAN; ENSEMBL ID: ENSG00000164778; HGNC ID: 3343
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
P00057Wnt signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1916Pervasive development disorder
2124Autistic disorder
2221Behavior disease
Desease Name
PSYCH
autism spectrum disorder
No data
Desease Name
Autism, susceptibility to, 10
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D005047 Etoposide EN2 protein affects the susceptibility to Etoposideaffects response to substance 16217747
D012701 Serotonin EN2 protein affects the abundance of Serotoninaffects abundance 16935268
D012701 Serotonin EN2 protein affects the abundance of Serotonin metaboliteaffects abundance 16935268
D007608 Kainic Acid EN2 protein affects the susceptibility to Kainic Acidaffects response to substance 19186208
D007608 Kainic Acid Kainic Acid results in decreased expression of EN2 mRNAdecreases expression 19186208
D008942 Mitoxantrone EN2 protein affects the susceptibility to Mitoxantroneaffects response to substance 16217747
D018038 Sodium Selenite Sodium Selenite results in increased expression of EN2 mRNAincreases expression 18175754
D014212 Tretinoin Tretinoin results in decreased expression of EN2 mRNAdecreases expression 16604517
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000505 Alopecia Tretinoin 3.8715955085
MESH:D001169 Arthritis, Experimental Tretinoin 3.2516412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3216292516
MESH:D001249 Asthma Tretinoin 2.4216456186
MESH:D001321 Autistic Disorder marker/mechanism 16935268 20523082 19186208 15024396
MESH:D001321 Autistic Disorder Serotonin 3.448570775 18361446 15132762 17157402 18062943 18405062 19221690
MESH:D001471 Barrett Esophagus Tretinoin 4.7816935849
MESH:D001778 Blood Coagulation Disorders Tretinoin 3.9316197459 16206674
MESH:D019046 Bone Marrow Neoplasms Etoposide 5.6814601052
MESH:D001919 Bradycardia Serotonin 5.948112388
MESH:D001943 Breast Neoplasms Etoposide 2.4616322251
MESH:D001943 Breast Neoplasms Tretinoin 2.4616443354 16873071 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.0516813970
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.6816168501
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 1.911917145
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3616051514 16096774
MESH:D002386 Cataract Tretinoin 3.2617460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.0516129372
MESH:D002659 Child Development Disorders, Pervasive Serotonin 4.2621254450
MESH:D002822 Choriocarcinoma Tretinoin 5.6816461808
MESH:D019457 Chromosome Breakage Sodium Selenite 5.1715894690
MESH:D021081 Chronobiology Disorders Serotonin 7.2117157402
MESH:D002972 Cleft Palate Tretinoin 2.789407595
MESH:D003092 Colitis Tretinoin 4.1217035595
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.8317551590 8800419 16925845 9142499 10589399 9211117 14991402 9125849 9664655 9224671
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.0616285004
MESH:D003967 Diarrhea Serotonin 5.1411488427 10446763 8112388
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 2.3515131321
MESH:D004487 Edema Serotonin 4.7918841975
MESH:D004489 Edema, Cardiac Tretinoin 4.9918230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.3016569247
MESH:D005124 Eye Abnormalities Tretinoin 3.8116938888 9664655
MESH:D005355 Fibrosis Tretinoin 3.9317994277
MESH:D005909 Glioblastoma Tretinoin 3.1917312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3816096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.6816084493
MESH:D006330 Heart Defects, Congenital Tretinoin 3.0414991402 9664655
MESH:D006331 Heart Diseases Mitoxantrone 4.3616019553
MESH:D006561 Herpes Simplex Etoposide 5.0210809021
MESH:D006689 Hodgkin Disease Etoposide 4.1516135485 18180244 16200630 17606976 15147373
MESH:D006930 Hyperalgesia Tretinoin 3.4616870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.9916778211
MESH:D007333 Insulin Resistance Sodium Selenite 3.4714714311
MESH:D007410 Intestinal Diseases Tretinoin 4.1817994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.2317551590 15992940
MESH:D007938 Leukemia Tretinoin 2.9017143497
MESH:D015451 Leukemia, Lymphocytic, Chronic, B-Cell Mitoxantrone 3.9018172266
MESH:D007951 Leukemia, Myeloid Tretinoin 4.0216932348 16482212 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1217596541 19850784 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3419075265 17506722 19642359 16331271 17339181 17368321 17107899 15748426 16788101 16766008 17361223 17217047 16891316 17712046 19035177 12679006 17294898 9834237 17301526 16140955 16935935 19225113 17649720 16823087 19029980
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.539224671
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 1.8118397230 16248980
MESH:D008223 Lymphoma Etoposide 4.1412556972 12854902
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.4114737004
MESH:D008527 Medulloblastoma Tretinoin 2.8817453147
MESH:D008545 Melanoma Tretinoin 1.9716752155
MESH:D008591 Meningomyelocele Tretinoin 4.8416940565
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2417596541
MESH:D009369 Neoplasms Mitoxantrone 5.9116640825
MESH:D009369 Neoplasms Tretinoin 5.9116946489 16594593
MESH:D009421 Nervous System Malformations Tretinoin 4.169125849
MESH:D009436 Neural Tube Defects Tretinoin 3.249142499
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4216936753
MESH:D010146 Pain Tretinoin 3.1616870215
MESH:D010190 Pancreatic Neoplasms Etoposide 5.8719003803
MESH:D010190 Pancreatic Neoplasms Tretinoin 5.8715976015
MESH:D011471 Prostatic Neoplasms Etoposide 3.5417172428
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.5418760546
MESH:D011507 Proteinuria Tretinoin 3.9516636307
MESH:D011625 Pterygium Tretinoin 5.2616723453
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.4516283617 16116481
MESH:D012512 Sarcoma, Ewing's Etoposide 5.0914601052
MESH:D012640 Seizures Kainic Acid 4.5718657176 10686065 19186208 17827730 19414003 14637104 15686955 16336964 1641125
MESH:D012878 Skin Neoplasms Tretinoin 2.7316467112
MESH:D012893 Sleep Disorders Kainic Acid 6.1619414003
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013964 Thyroid Neoplasms Tretinoin 3.2616026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 4.0916051514
MESH:D014376 Tuberculosis Tretinoin 3.4116040207
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.9816129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.1316752155
MESH:D014820 Vitiligo Tretinoin 4.4416761959
MESH:D009396 Wilms Tumor Tretinoin 4.2516287080
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Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27780
    • No data
    Releated disease ID Related disease Name
    PA443560Breast Neoplasms
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB03309 - N-Cyclohexyltaurine
    No data
    No data
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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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