该基因属于herc基因家族,编码一组异常大的蛋白质,包含多个结构域。所有成员至少有一个N-末端区域的拷贝,显示与细胞周期调节器RCC1和在一些E3泛素蛋白连接酶中发现的C-末端HECT(与E6-AP C末端同源)域同源。该基因的遗传变异与皮肤/头发/眼睛色素沉着变异有关。该基因的多个假基因位于15号和16号染色体上[由RefSeq提供,2012年3月]
This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]

基因名:HERC2
别名:jdf2,p528,MRT38,SHEP1,D15F37S1
基因ID:8924
Chromosome:
(GRCh37)
15 Start: 28356183 End: 28567313 Strand: 
信号通路:  
HERC2 基因突变与药物

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