该基因编码多肽生长因子胰岛素家族的一个成员,参与发育和生长。它是一个印记基因,仅从父系等位基因表达,该位点的表观遗传变化与Wilms肿瘤、Beckwith-Wiedemann综合征、横纹肌肉瘤和Silver-Russell综合征有关。存在一个通读的INS-IGF2基因,其5'区与INS基因重叠,3'区与该基因重叠。另外,还发现了编码不同亚型的剪接转录变体。
This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

基因名:IGF2
别名:C11orf43,GRDF,IGF-II,PP9974
基因ID:3481
Chromosome:
(GRCh37)
11 Start: 2150342 End: 2170833 Strand: -1
信号通路: 细胞增殖 
靶向药: 卡巴他赛  加尼妥单抗  林西替尼 
化疗药: 多西他赛 
IGF2 基因突变与药物

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