人 GTF2IRD2 (NM_173537) cDNA克隆

Accession: NM_173537
基因名称: GTF2IRD2
基因别名: FP630; GTF2IRD2A; GTF2IRD2 alpha
基因描述: Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), transcript variant 1, mRNA.
种属: Human
CDS区长度: 2850 (查看编码区序列)
翻译后氨基酸长度: 949 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
产品编号 产品名称 载体 规格 价格
G119828 人 GTF2IRD2 (NM_173537) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]