该基因编码一个表观遗传调控因子家族的成员,该家族结合各种组蛋白修饰酶,参与特定基因组位点转录因子的组装。这种基因的自然突变与几种组织类型(乳腺、膀胱、胰腺、卵巢、前列腺和血液)的癌症有关。该基因在神经发育、心脏功能、脂肪生成和破骨细胞生成中起重要作用。[由RefSeq提供,2017年2月]
This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017]

基因名:ASXL2
别名:ASXH2,SHAPNS
基因ID:55252
Chromosome:
(GRCh37)
2 Start: 25962253 End: 26101312 Strand: 
信号通路:  
ASXL2 基因突变与药物

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