AutismKB 2.0

Annotation Detail for CELSR2


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Basic Information Top
Gene Symbol:CELSR2 ( CDHF10,EGFL2,FLJ34118,FLJ42737,FLJ45143,FLJ45845,Flamingo1,KIAA0279,MEGF3 )
Gene Full Name: cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila)
Band: 1p13.3
Quick LinksEntrez ID:1952; OMIM: 604265; Uniprot ID:CELR2_HUMAN; ENSEMBL ID: ENSG00000143126; HGNC ID: 3231
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
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Pathway IDPathway Name
P00012Cadherin signaling pathway
P00057Wnt signaling pathway
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
CARDIOVASCULAR
myocardial infarction (early onset)
METABOLIC
LDL cholesterol
cholesterol, total
Desease Name
Cholesterol, total
Response to statin therapy
LDL cholesterol
Myocardial infarction (early onset)
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CELSR2 mRNAaffects expression 16483693
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of CELSR2 mRNAdecreases expression 15336504
D016572 Cyclosporine Cyclosporine results in decreased expression of CELSR2 mRNAdecreases expression 20106945
D002945 Cisplatin CELSR2 protein affects the susceptibility to Cisplatinaffects response to substance 16217747
D004958 Estradiol [Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of CELSR2 mRNAaffects cotreatment|decreases expression 19619570
D004958 Estradiol Estradiol results in increased expression of CELSR2 mRNAincreases expression 19619570
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CELSR2 mRNAaffects cotreatment|increases expression 17942748
C411652 IC 261 [IC 261 results in decreased activity of CSNK1A1 protein] inhibits the reaction [mono-(2-ethylhexyl)phthalate results in increased phosphorylation of CELSR2 protein]decreases activity|decreases reaction|increases phosphorylation 16484285
C016599 mono-(2-ethylhexyl)phthalate [IC 261 results in decreased activity of CSNK1A1 protein] inhibits the reaction [mono-(2-ethylhexyl)phthalate results in increased phosphorylation of CELSR2 protein]decreases activity|decreases reaction|increases phosphorylation 16484285
C016599 mono-(2-ethylhexyl)phthalate mono-(2-ethylhexyl)phthalate affects the transport of CELSR2 proteinaffects transport 16484285
C016599 mono-(2-ethylhexyl)phthalate mono-(2-ethylhexyl)phthalate results in increased phosphorylation of CELSR2 proteinincreases phosphorylation 16484285
D013749 Tetrachlorodibenzodioxin [Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of CELSR2 mRNAaffects cotreatment|decreases expression 19619570
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of CELSR2 mRNAdecreases expression 19619570
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CELSR2 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1314514962 11752688 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D058186 Acute Kidney Injury Cisplatin 4.1615814532 12690470 17670903
MESH:D000230 Adenocarcinoma Cisplatin 7.3717638652 11798837
MESH:D000230 Adenocarcinoma Estradiol 7.3711473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.3714692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D019046 Bone Marrow Neoplasms Cisplatin 5.2014601052
MESH:D001943 Breast Neoplasms Cisplatin 1.8918382427 19526202
MESH:D001943 Breast Neoplasms Estradiol 1.8917289903 17261762 12948864 17018787 16675129 19861407 14630087 18497071
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8920435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.7516111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular Cisplatin 3.2817982673
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.2816924424
MESH:D002289 Carcinoma, Non-Small-Cell Lung Cisplatin 3.0916685392 12023789
MESH:D002294 Carcinoma, Squamous Cell Cisplatin 2.8718337622 17066447 6189445
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4718850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.0312371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.0318566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis Cyclosporine 8.2819486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.2816105132 17110522 17681005 15861022 16919318 17333356 11677210
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1816354765 12621046 8697196 15668235 15340226
MESH:D015179 Colorectal Neoplasms Cisplatin 2.3315273666
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.5919279558
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5820420201
MESH:D004362 Drug Toxicity Cisplatin 8.6812231392 12649298 19839026 15033597
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 8.6811462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2218230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4212538720
MESH:D016889 Endometrial Neoplasms Estradiol 3.1119148513 18566989 11473722
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2110568697 9294722
MESH:D004938 Esophageal Neoplasms Cisplatin 2.8216481741 16785472 17638652 15173087 15464296
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Cyclosporine 8.2719224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.2715345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005355 Fibrosis Cyclosporine 9.3612168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.3620067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006258 Head and Neck Neoplasms Cisplatin 3.8515464296 15102660
MESH:D034381 Hearing Loss Cisplatin 4.4819898482
MESH:D006319 Hearing Loss, Sensorineural Cisplatin 4.5915464296
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4311294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1515340226 16120746 12621046
MESH:D006558 Herpes Genitalis Estradiol 5.3515709030
MESH:D006689 Hodgkin Disease Cisplatin 3.7716170182 16200630
MESH:D019584 Hot Flashes Estradiol 4.0717088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.368697196 16959395 15340226 16354765 18606429
MESH:D006973 Hypertension Cyclosporine 5.1710903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1718670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6217937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9512200463 12878042
MESH:D007333 Insulin Resistance Estradiol 3.0916393666 16627594
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007673 Kidney Cortex Necrosis Cisplatin 5.4615464296
MESH:D007674 Kidney Diseases Cisplatin 10.7619839026 12649298 12231392 18289764 15190930
MESH:D007674 Kidney Diseases Cyclosporine 10.7610903974 8314463 18776723
MESH:D007674 Kidney Diseases Estradiol 10.7615618244
MESH:D007680 Kidney Neoplasms Cyclosporine 7.8512371664
MESH:D007680 Kidney Neoplasms Estradiol 7.8515610895
MESH:D007683 Kidney Tubular Necrosis, Acute Cisplatin 5.1111231351
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.3114659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3112878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.7816984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2212151625
MESH:D008175 Lung Neoplasms Cisplatin 2.5211798837 17225452 6189445
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.5211884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.6811807958 16891317 11408345 17203775
MESH:D020149 Manganese Poisoning Estradiol 4.8019453300
MESH:D008545 Melanoma Cisplatin 2.4912374674 17023156 11135225 16432458 18176117 18505091 18332650 17761969 16248763 12393984 12883367 16809738 15577323
MESH:D018328 Melanoma, Amelanotic Cisplatin 5.0615990972
MESH:D008654 Mesothelioma Cisplatin 3.3117638057
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.4416810080
MESH:D009369 Neoplasms Cisplatin 3.0216773208
MESH:D009389 Neovascularization, Pathologic Estradiol 4.0217289903
MESH:D009395 Nephritis, Interstitial Cisplatin 4.8115464296
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4718481113 19348381
MESH:D009421 Nervous System Malformations Estradiol 10.2711399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.2714600291
MESH:D009447 Neuroblastoma Cisplatin 3.548761367
MESH:D017599 Neuroectodermal Tumors Cisplatin 4.988761367
MESH:D010051 Ovarian Neoplasms Cisplatin 5.1819769630 15464296 6897625 17225452
MESH:D010051 Ovarian Neoplasms Estradiol 5.1819401270
MESH:D010190 Pancreatic Neoplasms Cisplatin 3.0519003803
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D010523 Peripheral Nervous System Diseases Cisplatin 4.5515464296
MESH:D010997 Pleural Neoplasms Cisplatin 5.6617638057
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.4012371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811896295 11118676 11222880 11399792
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0920887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.0516740699
MESH:D011537 Pruritus Ethinyl Estradiol 3.6015861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D051437 Renal Insufficiency Cisplatin 4.6715464296
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012512 Sarcoma, Ewing's Cisplatin 4.6714601052
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 5.888532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8816192470
MESH:D055752 Small Cell Lung Carcinoma Cisplatin 5.6615464296
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2616709447
MESH:D013274 Stomach Neoplasms Cisplatin 2.3318396642 17522103 15958060
MESH:D013736 Testicular Neoplasms Cisplatin 4.8517225452 15464296
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D013978 Tibial Fractures Estradiol 5.0019048282
MESH:D001749 Urinary Bladder Neoplasms Cisplatin 3.0117225452 12973940 15464296
MESH:D002583 Uterine Cervical Neoplasms Cisplatin 4.4016803524
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D014605 Uveitis Cyclosporine 4.301336536
MESH:D014625 Vaginal Neoplasms Cisplatin 4.8715577323
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7514671159 15869587
MESH:D014839 Vomiting Cisplatin 5.0311897121
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.7617120751
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26394
    • No data
    Releated disease ID Related disease Name
    PA443635Cardiovascular Diseases
    PA443635Cardiovascular Diseases
    PA443797Coronary Disease
    PA445019Myocardial Infarction
    PA445019Myocardial Infarction
    No data
    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


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