AutismKB 2.0

Annotation Detail for DDB2


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Basic Information Top
Gene Symbol:DDB2 ( DDBB,FLJ34321,UV-DDB2 )
Gene Full Name: damage-specific DNA binding protein 2, 48kDa
Band: 11p11.2
Quick LinksEntrez ID:1643; OMIM: 600811; Uniprot ID:DDB2_HUMAN; ENSEMBL ID: ENSG00000134574; HGNC ID: 2718
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa03420Nucleotide excision repair
hsa04120Ubiquitin mediated proteolysis
hsa04115p53 signaling pathway
Pathway IDPathway Name
DNA Repair
Pathway IDPathway Name
200101Direct p53 effectors
Pathway IDPathway Name
P00059p53 pathway
Pathway IDPathway Name
500061Dual incision reaction in GG-NER
500060Formation of incision complex in GG-NER
500058Global Genomic NER (GG-NER)
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of DNA repair systems
H00403Disorders of nucleotide excision repair
Genetic disorders
Desease IDDesease Name
1944Breast cancer
No data
No data
Desease Name
Xeroderma pigmentosum, group E, DDB-negative subtype
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of DDB2 proteinaffects expression 20106945
D001151 Arsenic Arsenic results in decreased expression of DDB2 mRNAdecreases expression 19945496
D001564 Benzo(a)pyrene Benzo(a)pyrene affects the expression of DDB2 mRNAaffects expression 20624995
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of DDB2 mRNAincreases expression 20064835
15735009
20106945
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 increased expression of DDB2 proteinincreases expression 18085531
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased expression of DDB2 mRNAincreases expression 15336504
D016572 Cyclosporine Cyclosporine results in increased expression of DDB2 mRNAincreases expression 20106945
D015084 2,4-Dichlorophenoxyacetic Acid 2,4-Dichlorophenoxyacetic Acid results in increased expression of DDB2 mRNAincreases expression 15878651
C041517 dibenzo(a,l)pyrene dibenzo(a,l)pyrene results in increased expression of DDB2 mRNAincreases expression 15735009
D005472 Fluorouracil DDB2 protein affects the susceptibility to Fluorouracilaffects response to substance 15331170
D005472 Fluorouracil Fluorouracil results in increased expression of DDB2 mRNAincreases expression 16584549
15331170
17982676
D005472 Fluorouracil TP53 protein promotes the reaction [Fluorouracil results in increased expression of DDB2 mRNA]increases expression|increases reaction 17982676
C051890 irinotecan irinotecan metabolite results in increased expression of DDB2 mRNAincreases expression 15956246
C051890 irinotecan irinotecan results in increased expression of DDB2 mRNAincreases expression 15956246
C015329 lycopene lycopene results in increased expression of DDB2 mRNAincreases expression 16886892
C406082 monomethylarsonous acid monomethylarsonous acid results in decreased expression of DDB2 mRNAdecreases expression 19945496
C121565 pifithrin pifithrin inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of DDB2 mRNA]decreases reaction|increases expression 20064835
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of DDB2 mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid pirinixic acid results in increased expression of DDB2 mRNAincreases expression 18301758
C017947 sodium arsenite sodium arsenite results in decreased expression of DDB2 mRNAdecreases expression 12377979
D013749 Tetrachlorodibenzodioxin pifithrin inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of DDB2 mRNA]decreases reaction|increases expression 20064835
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.8715322242 14514962 11752688
MESH:D058186 Acute Kidney Injury pifithrin 4.8817670903
MESH:D055371 Acute Lung Injury pirinixic acid 3.1218653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.4120127859 20464547
MESH:D000230 Adenocarcinoma Fluorouracil 4.4117638652
MESH:D000236 Adenoma Benzo(a)pyrene 2.656695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 9.9716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 9.9716835633
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.7315276417
MESH:D018246 Adrenocortical Adenoma Arsenic 13.9017306315
MESH:D018246 Adrenocortical Adenoma sodium arsenite 13.9016712894 17306315
MESH:D000382 Agricultural Workers' Diseases 2,4-Dichlorophenoxyacetic Acid 5.1416132792
MESH:D000740 Anemia Fluorouracil 8.6917963324 15504547 16511603
MESH:D000740 Anemia Tetrachlorodibenzodioxin 8.6911748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.0919183758
MESH:D020261 Arsenic Poisoning Arsenic 2.8716835338 12569548 18414634 16251483
MESH:D050197 Atherosclerosis Arsenic 3.2512928151 19371607
MESH:D001778 Blood Coagulation Disorders pirinixic acid 8.7819483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.7812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7615746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8320146248 17474063
MESH:D001943 Breast Neoplasms Fluorouracil 1.8318608205 18357371 15136595 16557594 19217205 16110121 16595493
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8320435547
MESH:D002276 Carcinoid Tumor Fluorouracil 4.7016051944
MESH:D002277 Carcinoma Fluorouracil 8.1917121937
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 8.1916835633
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.5917687452 15504454
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 6.6312907637 21507988 12619106
MESH:D006528 Carcinoma, Hepatocellular Arsenic 6.6317306315 16507464
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 6.6317045692 17088986 16332177 18930000 16799960 17971768
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 6.6315276417 16507464 17306315
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0218695887
MESH:D002294 Carcinoma, Squamous Cell Arsenic 10.8315504454 17687452 18922899
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 10.8320419170
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 10.8316757204 16280240 17066447 18986760
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 10.8318572023
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.0818640142
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3718670907 16120746 18850075
MESH:D002318 Cardiovascular Diseases Arsenic 3.4515738583 17938729 19152805
MESH:D002340 Carotid Artery Diseases Arsenic 4.3118022660 16973168
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 16.0920889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 16.0912371664
MESH:D002471 Cell Transformation, Neoplastic monomethylarsonous acid 16.0919716837
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 16.0919524636 20056578
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D002779 Cholestasis Cyclosporine 7.7619486331
MESH:D002779 Cholestasis pirinixic acid 7.7619176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.108697196 12621046 16354765 15668235 15340226
MESH:D003110 Colonic Neoplasms Fluorouracil 3.9717018589 15001691 17172411 17725105 17287894 16340194 17016597 16510598 18772588 17169374
MESH:D003110 Colonic Neoplasms irinotecan 3.9717725105 17287894
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.7315289873 20501625 17594712 16524972 17016601 17454858 16282729 18509181 18448328 16303861 17094418 18802399 18288408 16331619 16391804 17695437 18949393 18383874 15148649 17401013 17255274 14970324
MESH:D015179 Colorectal Neoplasms irinotecan 2.7315273666 18259882 16303861 17159606 17454858 18509181 16391804
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0617141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2520055451 10048152 15322242
MESH:D007644 Darier Disease Fluorouracil 4.8116733453
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4318249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6717107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5420420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7611462148
MESH:D004487 Edema pirinixic acid 6.5512083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.5511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.9318230668 16714409 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.0210568697 9294722
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.2320426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.2316530937
MESH:D004938 Esophageal Neoplasms Fluorouracil 7.2316337965 16785472 16481741 15173087 17638652
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0111564622
MESH:D005234 Fatty Liver Cyclosporine 7.5819224547
MESH:D005234 Fatty Liver pirinixic acid 7.5819236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.4711858732
MESH:D005355 Fibrosis Cyclosporine 8.5312639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.5320067830
MESH:D005534 Foot Diseases Arsenic 5.596392382
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.7016452187
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.248708960
MESH:D005910 Glioma Fluorouracil 2.8716145905
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6210696789
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.3918337622 15162350 15102660
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.4520471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.4510048152 11294989
MESH:D006331 Heart Diseases pifithrin 4.5914766674
MESH:D006333 Heart Failure pirinixic acid 2.5420558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.4415720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3411000095
MESH:D006529 Hepatomegaly pirinixic acid 8.3119772884 18467677 19176532 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.3116120746 15340226 12621046
MESH:D006689 Hodgkin Disease sodium arsenite 3.1612676792
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.0816354765 8697196 18606429 15340226 16959395
MESH:D006943 Hyperglycemia pirinixic acid 3.1920558911
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.4617050553
MESH:D006973 Hypertension Arsenic 8.5916076760 9931084 11953799
MESH:D006973 Hypertension Cyclosporine 8.5910903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 8.5918670907 18850075
MESH:D006987 Hypesthesia Arsenic 5.5916093927
MESH:D020244 Infarction, Middle Cerebral Artery pifithrin 5.6819475672
MESH:D007248 Infertility, Male 2,4-Dichlorophenoxyacetic Acid 7.4312948887
MESH:D007248 Infertility, Male sodium arsenite 7.4315346721 12646999
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8612200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.6316306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3416580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.4715604871
MESH:D007642 Keratosis Arsenic 5.0116930632 12749816
MESH:D007674 Kidney Diseases Cyclosporine 6.028314463 18776723 10903974
MESH:D007674 Kidney Diseases sodium arsenite 6.0220008137
MESH:D007680 Kidney Neoplasms Cyclosporine 7.4012371664
MESH:D007680 Kidney Neoplasms Fluorouracil 7.4016985049
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.5517339181
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1415474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1412878042
MESH:D008107 Liver Diseases Arsenic 2.5411134558
MESH:D008113 Liver Neoplasms Aflatoxin B1 21.952125692 15890375 9163691 18177683
MESH:D008113 Liver Neoplasms Arsenic 21.9516368122
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 21.9520195826 21137059
MESH:D008113 Liver Neoplasms Fluorouracil 21.9517045692 18383874 16603448 15113037
MESH:D008113 Liver Neoplasms pirinixic acid 21.9515890375 16377806 20007298
MESH:D008113 Liver Neoplasms sodium arsenite 21.9515276417 16712894
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 21.9516984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 5.818603461
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.8112151625
MESH:D008171 Lung Diseases sodium arsenite 3.1719095001
MESH:D008175 Lung Neoplasms Aflatoxin B1 8.5714755239
MESH:D008175 Lung Neoplasms Arsenic 8.5717306315 19168569 17976673
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 8.5720869020 20464547 17053015 18816296 18520028 18569708 20135361 6695378 20064080
MESH:D008175 Lung Neoplasms Fluorouracil 8.5715246190
MESH:D008175 Lung Neoplasms sodium arsenite 8.5717306315 17077188 16712894 15276417 19931552
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 8.5719555203 11884234
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 4.8115086387
MESH:D008228 Lymphoma, Non-Hodgkin 2,4-Dichlorophenoxyacetic Acid 5.1516132792
MESH:D008545 Melanoma sodium arsenite 2.0319082730 16487513
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.8216801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 8.5416381670
MESH:D009062 Mouth Neoplasms Fluorouracil 8.5418986760 16757204
MESH:D052016 Mucositis irinotecan 5.0317159606
MESH:D009135 Muscular Diseases pirinixic acid 3.5216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1419151258
MESH:D017202 Myocardial Ischemia Arsenic 9.0115371236
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 9.0112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9516411023
MESH:D009362 Neoplasm Metastasis irinotecan 3.1718259882
MESH:D009369 Neoplasms Benzo(a)pyrene 15.7711141357
MESH:D009369 Neoplasms Fluorouracil 15.7718239605 18600527 16928823
MESH:D009369 Neoplasms lycopene 15.7717051425
MESH:D009369 Neoplasms pirinixic acid 15.7717405874
MESH:D009369 Neoplasms sodium arsenite 15.7711559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.6820056578
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.4717954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2919348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.2214600291
MESH:D009436 Neural Tube Defects Arsenic 7.4616620997
MESH:D009436 Neural Tube Defects sodium arsenite 7.4612854658
MESH:D009447 Neuroblastoma irinotecan 3.488761367
MESH:D017599 Neuroectodermal Tumors irinotecan 4.758761367
MESH:D020078 Neurogenic Inflammation Arsenic 4.3817056641
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.4416436463
MESH:D009765 Obesity pirinixic acid 1.8120558911
MESH:D010051 Ovarian Neoplasms Arsenic 5.0317306315
MESH:D010051 Ovarian Neoplasms sodium arsenite 5.0315276417 17306315
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.6619003803 16929163 15113037 16500647
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.2812520081
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.1916093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.0115371236 6392382 16905509
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5718163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.2212371664
MESH:D011248 Pregnancy Complications 2,4-Dichlorophenoxyacetic Acid 5.742087686
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.2111118676 11399792 11896295 11222880
MESH:D011471 Prostatic Neoplasms Arsenic 1.8916140617
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 1.8917292933
MESH:D011471 Prostatic Neoplasms Fluorouracil 1.8919082440 18626508
MESH:D011471 Prostatic Neoplasms lycopene 1.8917337101 15084515
MESH:D011471 Prostatic Neoplasms sodium arsenite 1.8916039940
MESH:D011507 Proteinuria Arsenic 4.0121343184
MESH:D011565 Psoriasis Cyclosporine 2.2316882103
MESH:D012004 Rectal Neoplasms Fluorouracil 4.0118722050 16160472 18286688 15538739
MESH:D015427 Reperfusion Injury pirinixic acid 2.3919058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8518990726
MESH:D012871 Skin Diseases Arsenic 5.3917938729 19834688 17453740 17050553 6392382 15952646 16353154 16702368 16759981 18709164 17548696
MESH:D012871 Skin Diseases monomethylarsonous acid 5.3917431481
MESH:D012878 Skin Neoplasms Arsenic 17.9415504454 17029826 16251483 17976673 17050553 19538983
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 17.9419755658 10029692
MESH:D012878 Skin Neoplasms sodium arsenite 17.9418572023 19524636
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 17.948532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 17.9416192470
MESH:D016135 Spinal Dysraphism sodium arsenite 3.8012854658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 3.442093021 20155912
MESH:D013274 Stomach Neoplasms Fluorouracil 3.4417522103 16424979 19015929 16951190 17172411 15786421 18567086 18396642 17498489 19084572
MESH:D013274 Stomach Neoplasms irinotecan 3.4415723263
MESH:D013345 Subarachnoid Hemorrhage pifithrin 6.0918364113
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.9312697716
MESH:D014062 Tongue Neoplasms Fluorouracil 3.9916280240
MESH:D001749 Urinary Bladder Neoplasms Arsenic 12.0119429237 19322015 18640142 11144890 17306315 15987713 17976673
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 12.0117053015
MESH:D001749 Urinary Bladder Neoplasms monomethylarsonous acid 12.0120375083
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 12.0116712894 16452187 17306315 11723127
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 9.5016803524
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 9.5011813266
MESH:D014605 Uveitis Cyclosporine 4.011336536
MESH:D014652 Vascular Diseases Arsenic 11.9217056641
MESH:D014652 Vascular Diseases sodium arsenite 11.9217056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6212125929
MESH:D020301 Vasospasm, Intracranial pifithrin 5.6418364113
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.2815886252
MESH:D014983 Xeroderma Pigmentosum marker/mechanism
MESH:D014985 Xerophthalmia Cyclosporine 4.4717120751
Pathway ID Pathway Name
REACT:216 DNA Repair
KEGG:03420 Nucleotide excision repair
KEGG:04115 p53 signaling pathway
KEGG:04120 Ubiquitin mediated proteolysis
Pharmacogenomics Knowledge Base Top
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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