AutismKB 2.0

Annotation Detail for SYNE2


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Basic Information Top
Gene Symbol:SYNE2 ( DKFZp434H2235,DKFZp686E01115,DKFZp686H1931,EDMD5,FLJ11014,FLJ43727,FLJ45710,FLJ46790,KIAA1011,NUA,NUANCE,Nesprin-2,SYNE-2,TROPH )
Gene Full Name: spectrin repeat containing, nuclear envelope 2
Band: 14q23.2
Quick LinksEntrez ID:23224; OMIM: 608442; Uniprot ID:SYNE2_HUMAN; ENSEMBL ID: ENSG00000054654; HGNC ID: 17084
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Emery-Dreifuss muscular dystrophy 5
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of SYNE2 mRNAincreases expression 19933214
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 SYNE2 mRNAdecreases expression 19150397
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SYNE2 mRNAaffects expression 17555576
C023036 perfluorooctanoic acid perfluorooctanoic acid results in increased expression of SYNE2 mRNAincreases expression 17560707
D016226 Phosphorus, Dietary Phosphorus, Dietary affects the expression of SYNE2 mRNAaffects expression 17651324
C006253 pirinixic acid pirinixic acid results in decreased expression of SYNE2 mRNAdecreases expression 18445702
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SYNE2 mRNAincreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2415322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.4218653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.2616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.2616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8215885639
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.7319483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.7312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6820435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018850075 16120746 18670907
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9020889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.4211677210 17333356 16919318 17681005 15861022 16105132 17110522
MESH:D002779 Cholestasis pirinixic acid 8.4219176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.208697196 15340226 16354765 15668235 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5318249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema perfluorooctanoic acid 13.1517259670 12083418
MESH:D004487 Edema pirinixic acid 13.1512083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 13.1511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3515322242 18230668 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5212538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1320426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.5015345470
MESH:D005234 Fatty Liver pirinixic acid 8.5019236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4610048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6920558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly perfluorooctanoic acid 16.673609246
MESH:D006529 Hepatomegaly pirinixic acid 16.6719176532 18467677 19772884 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 16.6712621046 16120746 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.498697196 18606429 16354765 15340226 16959395
MESH:D006930 Hyperalgesia perfluorooctanoic acid 4.0712083418
MESH:D006943 Hyperglycemia pirinixic acid 3.4520558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6617937319
MESH:D007249 Inflammation perfluorooctanoic acid 5.5812083418
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.5812200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.8016306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007984 Leydig Cell Tumor perfluorooctanoic acid 5.638812269
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2015474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2012878042
MESH:D008113 Liver Neoplasms perfluorooctanoic acid 7.9514757943 18709148
MESH:D008113 Liver Neoplasms pirinixic acid 7.9516377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9516984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2612151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D009135 Muscular Diseases pirinixic acid 3.8616239165
MESH:D020389 Muscular Dystrophy, Emery-Dreifuss marker/mechanism
MESH:D009203 Myocardial Infarction pirinixic acid 2.2419151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1616411023
MESH:D009369 Neoplasms pirinixic acid 2.0617405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D052556 Niemann-Pick Disease, Type C perfluorooctanoic acid 5.319802331
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects perfluorooctanoic acid 11.0317132714
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 11.0311222880 11896295 11399792 11118676
MESH:D011537 Pruritus Ethinyl Estradiol 3.7116919318 15861022
MESH:D015427 Reperfusion Injury pirinixic acid 2.5019058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1516192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3816709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6314692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8214671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA128394613
    • No data
    Releated disease ID Related disease Name
    PA443560Breast Neoplasms
    No data
    Drug Bank Top

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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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