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This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]
[中文简述(自动翻译):]  该基因编码塞弗之一拉尔尿嘧啶DNA糖基化酶。尿嘧啶DNA糖基化酶中的一个重要的功能是防止诱变由通过切割的N glycosylic键和启动碱基切除修复(BER)途径消除来自DNA分子尿嘧啶。尿嘧啶碱基胞嘧啶脱氨或者倾倒残错配发生。这个基因的替代性启动子的使用和剪接导致两种不同的同种型:线粒体UNG1和核UNG2。该UNG2术语被用作CCNO基因(GeneID 10309),它已被混淆该基因,在文献中和某些数据库前一符号。 [由RefSeq的,2010年11月提供]
UNG基因(以及对应的蛋白质)的细胞分布位置:
UNG基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hyper-IgM Immunodeficiency Syndrome, Type 5 | 0.36 | 1 | 1 | CLINVAR_ORPHANET_UNIPROT |
Colorectal Neoplasms | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
Hyperimmunoglobulin M syndrome | 0.121628651 | 6 | 0 | BeFree_CTD_human |
Bloom Syndrome | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Malignant neoplasm of prostate | 0.002638474 | 2 | 0 | BeFree_GAD |
Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
DNA Damage | 0.002367032 | 1 | 0 | GAD |
Graft-vs-Host Disease | 0.002367032 | 1 | 0 | GAD |
Immunologic Deficiency Syndromes | 0.002367032 | 1 | 0 | GAD |
Severe Combined Immunodeficiency | 0.002367032 | 1 | 0 | GAD |
Hematologic Neoplasms | 0.002367032 | 1 | 0 | GAD |
HIV Infections | 0.001628651 | 6 | 0 | BeFree |
Hyper-IgM Immunodeficiency Syndrome, Type 1 | 0.001628651 | 6 | 0 | BeFree |
Malignant tumor of colon | 0.000542884 | 2 | 0 | BeFree |
Esophageal Neoplasms | 0.000542884 | 2 | 1 | BeFree |
Glioblastoma | 0.000542884 | 2 | 0 | BeFree |
Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Esophageal carcinoma | 0.000542884 | 2 | 1 | BeFree |
Malignant neoplasm of esophagus | 0.000542884 | 2 | 1 | BeFree |
Colon Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Recurrent infections (sinusitis and bacterial pneumonia and meningitis) | 0.000542884 | 2 | 0 | BeFree |
Blast Phase | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Herpes Simplex Infections | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
Acute leukemia | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Vesicular Stomatitis | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 1 | BeFree |
Primary immune deficiency disorder | 0.000271442 | 1 | 0 | BeFree |
hiv-infection/aids | 0.000271442 | 1 | 0 | BeFree |
Neurodegenerative Disorders | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Precursor B-cell lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000271442 | 1 | 0 | BeFree |
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