人 GTF2IRD1 (NM_005685) cDNA克隆

基本信息

Accession: NM_005685
基因名称: GTF2IRD1
基因别名: BEN; WBS; GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1
基因描述: Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 2835 (查看编码区序列)
翻译后氨基酸长度: 944 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate splice site in the coding region, compared to variant 3. The encoded isoform (2) is shorter compared to isoform 3.

订购信息

产品编号 产品名称 载体 规格 价格
G102613 人 GTF2IRD1 (NM_005685) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 GTF2IRD1 (NM_016328) cDNA克隆 transcript variant 1
人 GTF2IRD1 (NM_005685) cDNA克隆 transcript variant 2
人 GTF2IRD1 (NM_001199207) cDNA克隆 transcript variant 3

基因简介

The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

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