AutismKB 2.0

Annotation Detail for TERF2


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Basic Information Top
Gene Symbol:TERF2 ( TRBF2,TRF2 )
Gene Full Name: telomeric repeat binding factor 2
Band: 16q22.1
Quick LinksEntrez ID:7014; OMIM: 602027; Uniprot ID:TERF2_HUMAN; ENSEMBL ID: ENSG00000132604; HGNC ID: 11729
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Chromosome Maintenance
Pathway IDPathway Name
200072Regulation of Telomerase
No data
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
HEMATOLOGICAL
Anemia, Aplastic
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of TERF2 mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of TERF2 mRNAdecreases expression 18648102
D005472 Fluorouracil Fluorouracil results in increased expression of TERF2 proteinincreases expression 16803524
15585135
D019800 Phenol Phenol results in increased expression of TERF2 mRNAincreases expression 17547211
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of TERF2 mRNAaffects binding|increases activity|increases expression 19710929
C034028 vanadyl sulfate vanadyl sulfate results in decreased expression of TERF2 mRNAdecreases expression 16330358
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D000230 Adenocarcinoma Fluorouracil 2.4817638652
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.923712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.9416434500
MESH:D000740 Anemia Fluorouracil 4.0217963324 16511603 15504547
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.541440618 11289319
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4719483382
MESH:D001859 Bone Neoplasms Phenol 5.5610556009
MESH:D001913 Bowen's Disease Phenol 6.2719293009
MESH:D001943 Breast Neoplasms Fluorouracil 2.4418357371 16557594 19217205 16595493 15136595 18608205 16110121
MESH:D002276 Carcinoid Tumor Fluorouracil 5.1916051944
MESH:D002277 Carcinoma Fluorouracil 3.8217121937
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.8316705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.837296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 4.8316799960 17971768 17045692 17088986 16332177 18930000
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 6.927296757
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 6.9218695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5616280240 17066447 18986760 16757204
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.967505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.629022650 19486331
MESH:D002779 Cholestasis pirinixic acid 8.6219176532
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2717172411 17725105 17287894 16510598 18772588 15001691 17016597 17018589 16340194 17169374
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0018949393 17454858 18288408 16524972 17255274 16303861 14970324 18509181 15289873 15148649 17594712 17401013 17016601 18448328 16331619 17695437 17094418 18383874 20501625 16391804 18802399 16282729
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.4318551238
MESH:D007644 Darier Disease Fluorouracil 5.2516733453
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.2114531868 18759878 12868966 11906362 8156756 2524372 8970840 11298694
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.843621924 2952479
MESH:D003921 Diabetes Mellitus, Experimental vanadyl sulfate 4.6416684804
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 4.1018551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.106482804 18692083 18648102 1440618 11289319 16192314 18289764 7440962 9022650 9328219 9653073 6679447 8291058
MESH:D004487 Edema pirinixic acid 2.8012083418
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.743581430
MESH:D004938 Esophageal Neoplasms Fluorouracil 4.7417638652 15173087 16481741 16337965 16785472
MESH:D005234 Fatty Liver pirinixic acid 3.0920131406 19236843
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.546705139
MESH:D005910 Glioma Fluorouracil 2.9716145905
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.397505956
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5918337622 15162350 15102660
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.896705139
MESH:D006529 Hepatomegaly pirinixic acid 3.4116221962 19772884 18467677 19176532
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.3615034207
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.548074119 9022650
MESH:D055623 Keratosis, Actinic Phenol 6.9619293009
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 14.0516705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 14.056582329
MESH:D007680 Kidney Neoplasms Fluorouracil 14.0516985049
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell marker/mechanism 17643074
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.389327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms Fluorouracil 4.8616603448 15113037 17045692 18383874
MESH:D008113 Liver Neoplasms pirinixic acid 4.8616377806 20007298 15890375
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.716587162 3712494 1399818 598648
MESH:D008175 Lung Neoplasms Fluorouracil 2.0115246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.2515086387
MESH:D009062 Mouth Neoplasms Fluorouracil 3.8718986760 16757204
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.3218551238
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.573581430
MESH:D009369 Neoplasms Fluorouracil 5.4416928823 18239605 18600527
MESH:D009369 Neoplasms pirinixic acid 5.4417405874
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.106679447
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.6416436463
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.9112819281 16049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 9.916482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.543988306
MESH:D010146 Pain Phenol 4.4517610455
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7519003803 16929163 15113037 16500647
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.907296757
MESH:D010392 Pemphigus Phenol 6.9616522979 17163923
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.996228378
MESH:D010864 Pilonidal Sinus Phenol 6.9619655223 15622588
MESH:D011041 Poisoning Phenol 5.068825745
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3618626508 19082440
MESH:D012004 Rectal Neoplasms Fluorouracil 4.3015538739 18286688 16160472 18722050
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.613692021
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7318551238
MESH:D013088 Spermatocele Phenol 6.1618646496
MESH:D013274 Stomach Neoplasms Fluorouracil 2.0017498489 18567086 19084572 17522103 16951190 19015929 15786421 16424979 17172411 18396642
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.127505956 1399818 3712494 6582329 6587162
MESH:D014062 Tongue Neoplasms Fluorouracil 4.2916280240
MESH:D014277 Trigeminal Neuralgia Phenol 6.9610223447 16527771
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.3516049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.358074119
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.7810091137
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.1816803524
MESH:D014860 Warts Phenol 6.6219122958
Pathway ID Pathway Name
REACT:22172 Chromosome Maintenance
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA36446
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    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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