该基因编码一种蛋白质,该蛋白质包含其他发育蛋白质中存在的四个结构域:pwp结构域、hmg盒、set结构域和phd型锌指。它在早期发育中广泛表达。沃尔夫先天性巨结肠综合征(whs)是一种与4号染色体远端短臂半合子缺失相关的畸形综合征。该基因定位于165kb的whs临界区,也参与了多发性骨髓瘤的染色体易位t(4;14)(p16.3;q32.3)。该基因的选择性剪接导致编码不同亚型的多个转录变体。一些转录变异体是无义介导的mrna(nmd)衰变候选,因此不能作为参考序列。[由RefSeq提供,2008年7月]
This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]

基因名:NSD2
别名:WHS,TRX5,KMT3F,KMT3G,MMSET,WHSC1,REIIBP
基因ID:7468
Chromosome:
(GRCh37)
4 Start: 1873123 End: 1983934 Strand: 
信号通路:  
NSD2 基因突变与药物

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