This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [provided by RefSeq, Jul 2008]
该基因补充着色性干皮C组细胞的紫外线灵敏度和编码与C2结构域的蛋白质。该蛋白质激活Beclin1基因-PI(3)KC3络合物,促进自体吞噬和抑制人结肠癌细胞的增殖和致瘤性。涉及该基因的染色体畸变与在该基因的左右轴畸形和突变已与结肠癌有关的相关联。 [由RefSeq的,2008年7月提供]
UVRAG基因(以及对应的蛋白质)的细胞分布位置:
UVRAG基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Squamous cell carcinoma | 0.012486326 | 46 | 0 | BeFree |
Carcinogenesis | 0.011129117 | 41 | 0 | BeFree |
Ectodermal Dysplasia | 0.007057489 | 26 | 0 | BeFree |
Vitiligo | 0.004734064 | 2 | 0 | GAD |
Split-Hand/Foot Malformation | 0.004614512 | 17 | 0 | BeFree |
Rudiger syndrome 1 | 0.004614512 | 17 | 0 | BeFree |
Hay-Wells syndrome | 0.004614512 | 17 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.003800186 | 14 | 0 | BeFree |
Split hand foot deformity 1 | 0.003528744 | 13 | 0 | BeFree |
Neoplasm Metastasis | 0.003528744 | 13 | 0 | BeFree |
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