AutismKB 2.0

Annotation Detail for ABCA12


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Basic Information Top
Gene Symbol:ABCA12 ( DKFZp434G232,FLJ41584,ICR2B,LI2 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 12
Band: 2q35
Quick LinksEntrez ID:26154; OMIM: 607800; Uniprot ID:ABCAC_HUMAN; ENSEMBL ID: ENSG00000144452; HGNC ID: 14637
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa02010ABC transporters
Pathway IDPathway Name
Transmembrane transport of small molecules
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1770Melanoma
2000Multiple malignancy
Desease Name
Alzheimer's disease
NEUROLOGICAL
No data
Desease Name
Ichthyosis, lamellar 2
Ichthyosis, harlequin
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of ABCA12 proteinaffects expression 20106945
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of ABCA12 mRNAincreases expression 20106945
D016572 Cyclosporine Cyclosporine results in increased expression of ABCA12 mRNAincreases expression 20106945
D004958 Estradiol [Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of ABCA12 mRNAaffects cotreatment|decreases expression 19619570
D004958 Estradiol Estradiol results in decreased expression of ABCA12 mRNAdecreases expression 19619570
D013749 Tetrachlorodibenzodioxin [Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of ABCA12 mRNAaffects cotreatment|decreases expression 19619570
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of ABCA12 mRNAdecreases expression 19619570
20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3815322242 14514962 11752688
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.5220464547 20127859
MESH:D000230 Adenocarcinoma Estradiol 4.5211473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.846695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.5619183758
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.7920146248 17474063
MESH:D001943 Breast Neoplasms Estradiol 1.7912948864 16675129 14630087 17018787 17289903 18497071 17261762 19861407
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.7920435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 5.0016111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 3.1612907637 12619106 21507988
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.1616924424
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5416120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.3612371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.3618566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002779 Cholestasis Cyclosporine 3.1719486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2212621046 16354765 15668235 8697196 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.7419279558
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7412711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5115322242 16714409 18230668
MESH:D016889 Endometrial Neoplasms Estradiol 3.2018566989 19148513 11473722
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3710568697 9294722
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0716530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Cyclosporine 3.2319224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Cyclosporine 10.1412168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.1420067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.9920471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9910048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3712621046 15340226 16120746
MESH:D006558 Herpes Genitalis Estradiol 5.6415709030
MESH:D019584 Hot Flashes Estradiol 4.3617088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6616354765 15340226 8697196 18606429 16959395
MESH:D006973 Hypertension Cyclosporine 5.3110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3118670907 18850075
OMIM:242500 ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE marker/mechanism
MESH:D017490 Ichthyosis, Lamellar marker/mechanism 16675967
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112200463 12878042
MESH:D007333 Insulin Resistance Estradiol 3.1816627594 16393666
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Cyclosporine 6.5518776723 10903974 8314463
MESH:D007674 Kidney Diseases Estradiol 6.5515618244
MESH:D007680 Kidney Neoplasms Cyclosporine 8.3012371664
MESH:D007680 Kidney Neoplasms Estradiol 8.3015610895
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.3414659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3412878042
MESH:D008113 Liver Neoplasms Aflatoxin B1 8.049163691 15890375 2125692 18177683
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 8.0421137059 20195826
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 8.0416984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.498603461
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4912151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 3.5314755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.5318569708 18520028 18816296 20464547 20064080 6695378 20869020 17053015 20135361
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5319555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.7716891317 11408345 11807958 17203775
MESH:D020149 Manganese Poisoning Estradiol 5.0919453300
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4616381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.5516810080
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3111141357
MESH:D009389 Neovascularization, Pathologic Estradiol 4.2717289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6118481113 19348381
MESH:D009421 Nervous System Malformations Estradiol 10.9716427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.9714600291
MESH:D010051 Ovarian Neoplasms Estradiol 2.3019401270
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311896295 11399792 11118676 11222880
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.2620887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.0317292933
MESH:D011471 Prostatic Neoplasms Estradiol 3.0316740699
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9519755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9516192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D013978 Tibial Fractures Estradiol 5.3019048282
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2917053015
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
Pathway ID Pathway Name
KEGG:02010 ABC transporters
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24376
    • Releated gene ID Related gene Name
    PA24376ABCA12
    Releated disease ID Related disease Name
    PA446494Ichthyosis, Lamellar
    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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