AutismKB 2.0

Annotation Detail for TBC1D4


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Basic Information Top
Gene Symbol:TBC1D4 ( AS160,DKFZp779C0666 )
Gene Full Name: TBC1 domain family, member 4
Band: 13q22.2
Quick LinksEntrez ID:9882; OMIM: 612465; Uniprot ID:TBCD4_HUMAN; ENSEMBL ID: ENSG00000136111; HGNC ID: 19165
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200169Class I PI3K signaling events mediated by Akt
200168Insulin-mediated glucose transport
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Related Diseases/Disorders Top
No data
Desease IDDesease Name
2102Polycystic ovary syndrome
2220Dermatitis
No data
Desease Name
Heart failure
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C038864 4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid 4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid results in increased phosphorylation of TBC1D4 proteinincreases phosphorylation 18063688
C103303 alitretinoin alitretinoin results in increased phosphorylation of TBC1D4 proteinincreases phosphorylation 18063688
C103303 alitretinoin Oligomycins promotes the reaction [alitretinoin results in increased phosphorylation of TBC1D4 protein]increases phosphorylation|increases reaction 18063688
D001374 Azacitidine Azacitidine results in decreased expression of TBC1D4 mRNAdecreases expression 19194470
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 TBC1D4 mRNAdecreases expression 19150397
C039671 ciglitazone ciglitazone results in increased phosphorylation of TBC1D4 proteinincreases phosphorylation 18063688
D003078 Colchicine Colchicine affects the phosphorylation of TBC1D4 proteinaffects phosphorylation 18063688
D003078 Colchicine Colchicine inhibits the reaction [Oligomycins results in increased phosphorylation of TBC1D4 protein]decreases reaction|increases phosphorylation 18063688
D009840 Oligomycins Colchicine inhibits the reaction [Oligomycins results in increased phosphorylation of TBC1D4 protein]decreases reaction|increases phosphorylation 18063688
D009840 Oligomycins Oligomycins promotes the reaction [alitretinoin results in increased phosphorylation of TBC1D4 protein]increases phosphorylation|increases reaction 18063688
D009840 Oligomycins Oligomycins results in increased phosphorylation of TBC1D4 proteinincreases phosphorylation 18063688
C006253 pirinixic acid pirinixic acid results in increased expression of TBC1D4 mRNAincreases expression 18301758
D019772 Topotecan TBC1D4 protein affects the susceptibility to Topotecanaffects response to substance 16217747
D014747 Vinblastine TBC1D4 protein affects the susceptibility to Vinblastineaffects response to substance 16217747
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.7216434500
MESH:D001528 Behcet Syndrome Colchicine 6.3215870978
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3219483382
MESH:D001943 Breast Neoplasms alitretinoin 3.1016344269
MESH:D002292 Carcinoma, Renal Cell Vinblastine 3.851485588
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.8420889678
MESH:D002779 Cholestasis pirinixic acid 2.9519176532
MESH:D015179 Colorectal Neoplasms Azacitidine 3.1819934284
MESH:D015179 Colorectal Neoplasms Vinblastine 3.1818802399
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D004487 Edema pirinixic acid 2.6512083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental ciglitazone 5.6716844232
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1120426865
MESH:D005234 Fatty Liver pirinixic acid 2.9319236843 20131406
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006529 Hepatomegaly pirinixic acid 3.2116221962 19772884 18467677 19176532
MESH:D006689 Hodgkin Disease Vinblastine 4.1818180244 18501091
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D017492 Keratosis, Seborrheic alitretinoin 5.8716144296
MESH:D007859 Learning Disorders Colchicine 5.7111749816
MESH:D007938 Leukemia Azacitidine 3.7719148494
MESH:D007951 Leukemia, Myeloid Azacitidine 4.7919077051
MESH:D015470 Leukemia, Myeloid, Acute Azacitidine 3.0218720364 17596541
MESH:D054429 Leukemia, Myelomonocytic, Juvenile Azacitidine 5.3719299654
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3415474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.8720007298 15890375 16377806
MESH:D008175 Lung Neoplasms alitretinoin 4.0416413115
MESH:D008175 Lung Neoplasms Azacitidine 4.0421224363
MESH:D008175 Lung Neoplasms ciglitazone 4.0415899809
MESH:D008545 Melanoma Vinblastine 2.9318176117 18332650 15577323 12374674 16809738 16248763 15577320 17761969 16432458 18505091
MESH:D009006 Monosomy Azacitidine 6.3519299654
MESH:D009101 Multiple Myeloma Azacitidine 4.0818443271 19549372
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009190 Myelodysplastic Syndromes Azacitidine 4.0917611569 19805378 17596541 18720364
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009369 Neoplasms alitretinoin 5.4816946489
MESH:D009369 Neoplasms pirinixic acid 5.4817405874
MESH:D009447 Neuroblastoma Topotecan 3.9315176712
MESH:D009503 Neutropenia Vinblastine 4.7517378895
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D017499 Porokeratosis alitretinoin 6.2716144296
MESH:D011471 Prostatic Neoplasms Azacitidine 4.1018324645
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D014625 Vaginal Neoplasms Vinblastine 5.2615577323
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA38807
    • No data
    No data
    Releated drug ID Related drug Name
    PA449773glucose
    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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