人 GTF2IRD2 (NM_001281447) cDNA克隆

Accession: NM_001281447
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 2, mRNA.
种属: Human
CDS区长度: 327 (查看编码区序列)
翻译后氨基酸长度: 108 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks multiple 3' coding exons and its transcription extends past a splice site used in the variant 1, resulting in a distinct 3' coding region and 3' UTR. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
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G119829 人 GTF2IRD2 (NM_001281447) 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]