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The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
[中文简述(自动翻译):]  核苷酸切除修复途径是修复DNA损伤的机制。由该基因编码的蛋白参与转录偶联核苷酸切除修复和是基础转录因子BTF2 / TFIIH复杂的一个组成部件。该基因产物具有ATP依赖性的DNA解旋酶的活性和属于解旋酶的RAD3 / XPD亚科。在这个基因的缺陷可能导致三种不同的障碍,癌症倾向综合征着色性干皮互补组D,trichothiodystrophy和科凯恩综合征。已发现该基因编码不同亚型选择性剪接转录变异体。 [由RefSeq的,2008年8月提供]
ERCC2基因(以及对应的蛋白质)的细胞分布位置:
ERCC2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Xeroderma Pigmentosum, Complementation Group D | 0.565428837 | 25 | 9 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Photosensitive Trichothiodystrophy | 0.44 | 6 | 6 | CLINVAR_CTD_human_MGD_UNIPROT |
Cerebrooculofacioskeletal Syndrome 2 | 0.36 | 1 | 2 | CLINVAR_CTD_human_UNIPROT |
Cerebrooculofacioskeletal Syndrome 1 | 0.240542884 | 2 | 2 | BeFree_CLINVAR_ORPHANET |
Malignant neoplasm of lung | 0.213843535 | 78 | 18 | BeFree_GAD_GWASCAT |
Squamous cell carcinoma | 0.175575822 | 23 | 2 | BeFree_CTD_human_GAD_LHGDN |
Skin Neoplasms | 0.151486052 | 11 | 0 | CTD_human_GAD_LHGDN |
Stomach Neoplasms | 0.144027638 | 9 | 0 | CTD_human_GAD_LHGDN |
Colorectal Neoplasms | 0.142732561 | 9 | 0 | CTD_human_GAD_LHGDN |
Trichothiodystrophy Syndromes | 0.137915164 | 66 | 2 | BeFree_ORPHANET |
Bladder Neoplasm | 0.128444493 | 4 | 0 | BeFree_CTD_human_LHGDN |
Prostatic Neoplasms | 0.125091382 | 2 | 0 | CTD_human_GAD_LHGDN |
Dermatologic disorders | 0.122638474 | 3 | 0 | BeFree_CTD_human_GAD |
Occupational Diseases | 0.122367032 | 2 | 0 | CTD_human_GAD |
Sunburn | 0.122367032 | 1 | 0 | CTD_human_GAD |
Hyperkeratosis, Epidermolytic | 0.122367032 | 1 | 0 | CTD_human_GAD |
Skin Abnormalities | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Peripheral Neuropathy | 0.12 | 1 | 0 | CTD_human |
CAMFAK syndrome | 0.12 | 0 | 0 | ORPHANET |
Pena Shokeir syndrome Type 2 | 0.12 | 0 | 0 | ORPHANET |
Malignant neoplasm of breast | 0.083616838 | 45 | 13 | BeFree_GAD |
Malignant neoplasm of urinary bladder | 0.083540893 | 45 | 6 | BeFree_GAD |
Asphyxia Neonatorum | 0.08 | 1 | 0 | RGD |
Colorectal Cancer | 0.057503541 | 35 | 13 | BeFree_GAD |
DNA Damage | 0.037872512 | 16 | 0 | GAD |
Lung Neoplasms | 0.037168638 | 16 | 3 | BeFree_GAD_LHGDN |
Adenocarcinoma | 0.034753286 | 14 | 0 | BeFree_GAD_LHGDN |
Xeroderma Pigmentosum | 0.034718272 | 73 | 3 | BeFree_GAD_LHGDN |
melanoma | 0.032376323 | 16 | 2 | BeFree_GAD_LHGDN |
Malignant neoplasm of esophagus | 0.029490151 | 16 | 2 | BeFree_GAD |
Mammary Neoplasms | 0.028810021 | 10 | 0 | BeFree_GAD_LHGDN |
Esophageal Neoplasms | 0.024756087 | 14 | 2 | BeFree_GAD |
Chromosome Aberrations | 0.018936256 | 8 | 0 | GAD |
Basal cell carcinoma | 0.016926542 | 6 | 0 | GAD_LHGDN |
Malignant neoplasm of ovary | 0.015830843 | 10 | 3 | BeFree_GAD |
Malignant neoplasm of prostate | 0.01482102 | 13 | 6 | BeFree_GAD |
Carcinoma of lung | 0.013843535 | 51 | 18 | BeFree |
Lymphoma, Non-Hodgkin | 0.012649486 | 7 | 5 | BeFree_GAD |
Pancreatic Neoplasm | 0.012549796 | 3 | 0 | GAD_LHGDN |
Cancer of Head and Neck | 0.012182547 | 13 | 10 | BeFree_GAD |
Malignant neoplasm of stomach | 0.011911105 | 13 | 9 | BeFree_GAD |
Head and Neck Neoplasms | 0.01183516 | 5 | 0 | GAD |
Leukemia, Myelocytic, Acute | 0.011454097 | 10 | 2 | BeFree_GAD_LHGDN |
Glioma | 0.010901282 | 15 | 5 | BeFree_GAD |
Colorectal Carcinoma | 0.010434343 | 23 | 13 | BeFree_GAD |
leukemia | 0.01036833 | 4 | 0 | BeFree_GAD_LHGDN |
Cockayne Syndrome | 0.008153188 | 21 | 0 | BeFree_LHGDN |
Breast Carcinoma | 0.008143256 | 30 | 13 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.007915422 | 6 | 1 | BeFree_GAD |
Kidney Neoplasm | 0.007101096 | 3 | 0 | GAD |
Myeloid Leukemia | 0.007101096 | 3 | 0 | GAD |
Mouth Neoplasms | 0.007101096 | 3 | 0 | GAD |
Diffuse Large B-Cell Lymphoma | 0.005819831 | 5 | 2 | BeFree_GAD |
Malignant neoplasm of mouth | 0.005819831 | 6 | 0 | BeFree_GAD |
Carcinoma of bladder | 0.005428837 | 20 | 6 | BeFree |
Cerebrovascular accident | 0.005362824 | 2 | 0 | BeFree_GAD_LHGDN |
Chronic Lymphocytic Leukemia | 0.005276948 | 4 | 1 | BeFree_GAD |
Leukoplakia, Oral | 0.005276948 | 3 | 0 | BeFree_GAD |
Neutropenia | 0.005276948 | 4 | 0 | BeFree_GAD |
Skin carcinoma | 0.005276948 | 4 | 2 | BeFree_GAD |
Non-Small Cell Lung Carcinoma | 0.005157396 | 19 | 25 | BeFree |
Neoplasms, Second Primary | 0.005091382 | 1 | 0 | GAD_LHGDN |
Azoospermia | 0.005005506 | 2 | 0 | BeFree_GAD |
Renal Cell Carcinoma | 0.005005506 | 2 | 1 | BeFree_GAD |
Fibroid Tumor | 0.005005506 | 2 | 0 | BeFree_GAD |
Lymphoma, Follicular | 0.005005506 | 2 | 0 | BeFree_GAD |
Meningioma | 0.005005506 | 2 | 0 | BeFree_GAD |
Malignant neoplasm of skin | 0.004810009 | 10 | 3 | BeFree_GAD |
Animal Mammary Neoplasms | 0.004734064 | 2 | 0 | GAD |
Helicobacter Infections | 0.004734064 | 2 | 0 | GAD |
Osteosarcoma | 0.003995683 | 6 | 4 | BeFree_GAD |
Liver carcinoma | 0.003995683 | 7 | 1 | BeFree_GAD |
Squamous cell carcinoma of esophagus | 0.003528744 | 13 | 1 | BeFree |
oligodendroglioma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Prostate carcinoma | 0.002985861 | 11 | 6 | BeFree |
Malignant neoplasm of larynx | 0.002909916 | 3 | 0 | BeFree_GAD |
Carcinoma, Transitional Cell | 0.002909916 | 3 | 1 | BeFree_GAD |
Lymphoma | 0.002909916 | 3 | 2 | BeFree_GAD |
Neoplasm Metastasis | 0.002909916 | 3 | 1 | BeFree_GAD |
Precancerous Conditions | 0.002909916 | 2 | 0 | BeFree_GAD |
Hyperkeratosis | 0.002909916 | 2 | 0 | BeFree_GAD |
Coronary Artery Disease | 0.002909916 | 2 | 7 | BeFree_GAD |
ovarian neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Adenoma | 0.002638474 | 1 | 1 | BeFree_GAD |
Brain Neoplasms | 0.002638474 | 2 | 0 | BeFree_GAD |
Hepatitis B | 0.002638474 | 2 | 1 | BeFree_GAD |
Hepatitis C | 0.002638474 | 2 | 1 | BeFree_GAD |
Male infertility | 0.002638474 | 1 | 1 | BeFree_GAD |
Liver neoplasms | 0.002638474 | 2 | 1 | BeFree_GAD |
Lupus Erythematosus, Systemic | 0.002638474 | 1 | 0 | BeFree_GAD |
Multiple Myeloma | 0.002638474 | 1 | 0 | BeFree_GAD |
Acoustic Neuroma | 0.002638474 | 1 | 3 | BeFree_GAD |
Skin lesion | 0.002638474 | 1 | 0 | BeFree_GAD |
Malignant neoplasm of testis | 0.002638474 | 1 | 0 | BeFree_GAD |
Malignant neoplasm of liver | 0.002638474 | 2 | 0 | BeFree_GAD |
Endometrial Carcinoma | 0.002638474 | 2 | 1 | BeFree_GAD |
Thyroid carcinoma | 0.002638474 | 1 | 0 | BeFree_GAD |
Epithelial ovarian cancer | 0.002638474 | 2 | 0 | BeFree_GAD |
Congenital chromosomal disease | 0.002442977 | 9 | 5 | BeFree |
Stomach Carcinoma | 0.002442977 | 9 | 9 | BeFree |
Experimental Organism Basal Cell Carcinoma | 0.002442977 | 9 | 1 | BeFree |
Biliary Tract Neoplasm | 0.002367032 | 1 | 0 | GAD |
Bone neoplasms | 0.002367032 | 1 | 0 | GAD |
Breast Diseases | 0.002367032 | 1 | 0 | GAD |
Burkitt Lymphoma | 0.002367032 | 1 | 0 | GAD |
Uterine Cervical Neoplasm | 0.002367032 | 1 | 0 | GAD |
Deafness | 0.002367032 | 1 | 0 | GAD |
Diarrhea | 0.002367032 | 1 | 0 | GAD |
Endometriosis | 0.002367032 | 1 | 0 | GAD |
Fibrosis | 0.002367032 | 1 | 0 | GAD |
Gastritis, Atrophic | 0.002367032 | 1 | 0 | GAD |
Hearing Loss, Partial | 0.002367032 | 1 | 0 | GAD |
Heartburn | 0.002367032 | 1 | 0 | GAD |
Hodgkin Disease | 0.002367032 | 1 | 0 | GAD |
Laryngeal neoplasm | 0.002367032 | 1 | 0 | GAD |
Leukemia, Lymphocytic, Acute, L1 | 0.002367032 | 1 | 0 | GAD |
Leukemia, Myeloid, Chronic-Phase | 0.002367032 | 1 | 0 | GAD |
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Meningeal Neoplasms | 0.002367032 | 1 | 0 | GAD |
Mesothelioma | 0.002367032 | 1 | 0 | GAD |
Multiple Sclerosis | 0.002367032 | 1 | 0 | GAD |
Nasopharyngeal Neoplasms | 0.002367032 | 1 | 0 | GAD |
Neoplasms, Multiple Primary | 0.002367032 | 1 | 0 | GAD |
Neoplasms, Radiation-Induced | 0.002367032 | 1 | 0 | GAD |
Neural Tube Defects | 0.002367032 | 1 | 0 | GAD |
Pleural Neoplasms | 0.002367032 | 1 | 0 | GAD |
Pre-Eclampsia | 0.002367032 | 1 | 0 | GAD |
Pterygium | 0.002367032 | 1 | 0 | GAD |
Rectal Neoplasms | 0.002367032 | 1 | 0 | GAD |
Chromosomal translocation | 0.002367032 | 1 | 0 | GAD |
Ureteral Neoplasms | 0.002367032 | 1 | 0 | GAD |
Uterine Neoplasms | 0.002367032 | 1 | 0 | GAD |
Cataract | 0.002367032 | 1 | 0 | GAD |
Small cell carcinoma of lung | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of brain | 0.002367032 | 1 | 0 | GAD |
Cervical Intraepithelial Neoplasia | 0.002367032 | 1 | 0 | GAD |
Age related macular degeneration | 0.002367032 | 1 | 0 | GAD |
Carcinoma, Small Cell | 0.002367032 | 1 | 0 | GAD |
Carcinoma, Pancreatic Ductal | 0.002367032 | 1 | 0 | GAD |
Polyp of large intestine | 0.002367032 | 1 | 0 | GAD |
Sarcoma | 0.002367032 | 1 | 0 | GAD |
hearing impairment | 0.002367032 | 1 | 0 | GAD |
Solar Erythema | 0.002367032 | 1 | 0 | GAD |
MYELODYSPLASTIC SYNDROME | 0.002367032 | 1 | 0 | GAD |
Hearing Loss | 0.002367032 | 1 | 0 | GAD |
Squamous cell carcinoma of the head and neck | 0.001900093 | 7 | 1 | BeFree |
Ovarian Carcinoma | 0.001628651 | 6 | 3 | BeFree |
Osteosarcoma of bone | 0.001628651 | 6 | 4 | BeFree |
Schizophrenia | 0.001357209 | 5 | 0 | BeFree |
Cutaneous Melanoma | 0.001357209 | 5 | 1 | BeFree |
Adenocarcinoma Of Esophagus | 0.001357209 | 5 | 4 | BeFree |
Esophageal carcinoma | 0.001085767 | 4 | 2 | BeFree |
Lip and Oral Cavity Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Pancreatic carcinoma | 0.001085767 | 4 | 2 | BeFree |
Brittle hair | 0.001085767 | 4 | 0 | BeFree |
Xeroderma pigmentosum, group A | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.001085767 | 4 | 2 | BeFree |
Carcinogenesis | 0.001085767 | 4 | 0 | BeFree |
Rectal Carcinoma | 0.000814326 | 3 | 2 | BeFree |
Acute lymphocytic leukemia | 0.000814326 | 3 | 1 | BeFree |
Paroxysmal atrial tachycardia | 0.000814326 | 3 | 11 | BeFree |
Tumor Progression | 0.000814326 | 3 | 0 | BeFree |
Cervix carcinoma | 0.000814326 | 3 | 0 | BeFree |
Multisystem disorder | 0.000814326 | 3 | 0 | BeFree |
Adenoma of large intestine | 0.000814326 | 3 | 0 | BeFree |
PHOTOPAROXYSMAL RESPONSE 1 | 0.000814326 | 3 | 0 | BeFree |
AIDS related complex | 0.000542884 | 2 | 0 | BeFree |
Leukopenia | 0.000542884 | 2 | 0 | BeFree |
Progeria | 0.000542884 | 2 | 0 | BeFree |
Age-related cataract | 0.000542884 | 2 | 0 | BeFree |
Lymphoma, Large-Cell, Follicular | 0.000542884 | 2 | 4 | BeFree |
Acute leukemia | 0.000542884 | 2 | 1 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000542884 | 2 | 0 | BeFree |
Premature aging syndrome | 0.000542884 | 2 | 0 | BeFree |
Cervical Squamous Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of larynx | 0.000542884 | 2 | 0 | BeFree |
Stage III Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
Colon Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Cockayne Syndrome, Type I | 0.000542884 | 2 | 0 | BeFree |
Sporadic Breast Carcinoma | 0.000542884 | 2 | 3 | BeFree |
Urothelial Carcinoma | 0.000542884 | 2 | 1 | BeFree |
Stage III Colorectal Cancer AJCC v7 | 0.000542884 | 2 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
Barrett Esophagus | 0.000271442 | 1 | 3 | BeFree |
Mental disorders | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of endometrium | 0.000271442 | 1 | 1 | BeFree |
Malignant neoplasm of thyroid | 0.000271442 | 1 | 0 | BeFree |
CNS disorder | 0.000271442 | 1 | 0 | BeFree |
Charcot-Marie-Tooth Disease | 0.000271442 | 1 | 0 | BeFree |
Fanconi Anemia | 0.000271442 | 1 | 0 | BeFree |
Gastroesophageal reflux disease | 0.000271442 | 1 | 3 | BeFree |
leiomyosarcoma | 0.000271442 | 1 | 2 | BeFree |
Leukoplakia | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
Periodontitis | 0.000271442 | 1 | 0 | BeFree |
Polycythemia Vera | 0.000271442 | 1 | 0 | BeFree |
polyps | 0.000271442 | 1 | 3 | BeFree |
Skin Diseases, Genetic | 0.000271442 | 1 | 0 | BeFree |
synovial sarcoma | 0.000271442 | 1 | 0 | BeFree |
Thrombocythemia, Essential | 0.000271442 | 1 | 0 | BeFree |
T-Cell Lymphoma | 0.000271442 | 1 | 2 | BeFree |
Malignant neoplasm of gallbladder | 0.000271442 | 1 | 8 | BeFree |
Adenomatous Polyps | 0.000271442 | 1 | 0 | BeFree |
pediatric acute myeloblastic leukemia | 0.000271442 | 1 | 1 | BeFree |
Neurologic Symptoms | 0.000271442 | 1 | 0 | BeFree |
Gallbladder Carcinoma | 0.000271442 | 1 | 8 | BeFree |
Chronic Periodontitis | 0.000271442 | 1 | 0 | BeFree |
Xeroderma pigmentosum, group B | 0.000271442 | 1 | 0 | BeFree |
Non-small cell lung cancer stage IIIA | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of oropharynx | 0.000271442 | 1 | 3 | BeFree |
Malignant mesothelioma | 0.000271442 | 1 | 0 | BeFree |
Dermatofibrosarcoma Protuberans | 0.000271442 | 1 | 0 | BeFree |
Neuropathy | 0.000271442 | 1 | 0 | BeFree |
Combined immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Malignant Glioma | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 1 | BeFree |
Febrile Neutropenia | 0.000271442 | 1 | 0 | BeFree |
Well Differentiated Oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
Helicobacter pylori infection | 0.000271442 | 1 | 0 | BeFree |
Invasive breast carcinoma | 0.000271442 | 1 | 0 | BeFree |
Testicular malignant germ cell tumor | 0.000271442 | 1 | 0 | BeFree |
Colorectal cancer metastatic | 0.000271442 | 1 | 0 | BeFree |
Major Depressive Disorder | 0.000271442 | 1 | 0 | BeFree |
Treatment related acute myeloid leukaemia | 0.000271442 | 1 | 0 | BeFree |
Hepatocarcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Skin Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Meningioma, benign, no ICD-O subtype | 0.000271442 | 1 | 0 | BeFree |
Uterine Corpus Cancer | 0.000271442 | 1 | 1 | BeFree |
Pregnancy Related Skin Change | 0.000271442 | 1 | 0 | BeFree |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | 0.000271442 | 1 | 0 | BeFree |
Triple Negative Breast Neoplasms | 0.000271442 | 1 | 1 | BeFree |
Intracranial glioma | 0.000271442 | 1 | 0 | BeFree |
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