AutismKB 2.0

Annotation Detail for ECE2


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Basic Information Top
Gene Symbol:ECE2 ( KIAA0604,MGC17664,MGC2408,MGC78487 )
Gene Full Name: endothelin converting enzyme 2
Band: 3q27.1
Quick LinksEntrez ID:9718; OMIM: 610145; Uniprot ID:ECE2_HUMAN; ENSEMBL ID: ENSG00000145194; HGNC ID: 13275
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in decreased expression of ECE2 mRNAdecreases expression 16788091
D000082 Acetaminophen Acetaminophen affects the expression of ECE2 mRNAaffects expression 17562736
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of ECE2 mRNAaffects expression 17555576
D012645 Selenomethionine Selenomethionine affects the expression of ECE2 mRNAaffects expression 17222674
D013629 Tamoxifen Tamoxifen affects the expression of ECE2 mRNAaffects expression 17555576
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.1614745880
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.5517505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.9511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8615885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001943 Breast Neoplasms Tamoxifen 2.1718629630 19084267 19244106 18855134 16273361 17893378 11161223 17440819 19155303 19189212 20135344 19115204 19059307 18351453 19103187 16202921 21138602 19221464 20065188 19189210 19289846 19142967 19288272 15668708 18821012 20544844 18997820 17049068 20859285 19487384 18425577 15565566 16873071 18815881 20005174 19011961 18984771 19410462 16818667 20390343 19066611 19200415 17261762 21152245 17242785
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.9919066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.973084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 2.9716924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.9617572228
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1316105132 15861022 17681005 17110522 16919318 11677210 17333356
MESH:D003711 Demyelinating Diseases Tamoxifen 4.8519031437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.8019279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6612958197 16177239 12594235 14986274 11421492 17906064 19923254 18071297 17522070 11287661 19370779 16227642 17562736 19416960 16393943 11739529 19164858 14725611 2444490 12705907 16485898 19739265 12392966 18713872 10774834 19085960 14550746 15968718 15619225 16081117 12153990 16781746 12540782 11743745 11529661 16109766 19420014 11461765 10663392 10915739 11834606
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.4512538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.4519031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2616202921 20544844 19155303 17893378
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.9615345470
MESH:D005234 Fatty Liver Tamoxifen 8.9614986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4316709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 5.0714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.7219069698
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2916945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7117937319
MESH:D007249 Inflammation Tamoxifen 2.5119457130
MESH:D007674 Kidney Diseases Acetaminophen 2.3815629191 12587719
MESH:D007680 Kidney Neoplasms Tamoxifen 3.3518625569
MESH:D008064 Lipidoses Tamoxifen 3.4015342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 1.7518564211
MESH:D008107 Liver Diseases Acetaminophen 1.6919460945 16611625 12969438 11587558 19784758 12587719 16610002 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5816871587 17185352
MESH:D008113 Liver Neoplasms Tamoxifen 2.3216684651
MESH:D008175 Lung Neoplasms Tamoxifen 1.7418625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.3019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8314580682 19196723 11731420 19196722 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 5.1619453300
MESH:D008545 Melanoma Tamoxifen 1.9219393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.7215990972
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6619393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6019410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.6119189210 19196722 19200415
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0911578682
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0915067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.8515861022 16919318
MESH:D013088 Spermatocele Ethinyl Estradiol 13.6916709447
MESH:D013088 Spermatocele Tamoxifen 13.6916709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.5819457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4815669648
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.4617572228 16712894 8653321
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.7414692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9114671159 15869587
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134886910
  • Releated gene ID Related gene Name
    PA24910APP
    No data
    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