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TWIST2

The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]
Protein class

Disease related genes, Human disease related genes, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Endometrial stromal cells, Fibroblasts, Leydig cells, Peritubular cells, Theca cells)

Immune cell specificity

Immune cell enriched (eosinophil)

Cell line specificity

Cell line enhanced (ASC diff, ASC TERT1, BJ, BJ hTERT+, fHDF/TERT166, U-2197)

Interaction

Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3/E12. Also interacts with MEF2C (By similarity).

Molecular function

Developmental protein, DNA-binding, Repressor

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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