DACH2
Description
The DACH2 (dachshund family transcription factor 2) is a protein-coding gene located on chromosome X.
The DACH2 gene encodes a protein similar to the Drosophila protein dachshund, which is a transcription factor involved in cell fate determination. The DACH2 protein contains two dachshund domains: an N-terminal domain for DNA binding and a C-terminal domain for protein interactions. Located on the X chromosome, DACH2 is subject to inactivation by DNA methylation. It likely plays a role in organogenesis, myogenesis, and may be involved in premature ovarian failure.
DACH2 acts as a transcription factor, playing a crucial role in regulating organogenesis. It is involved in regulating the activity of other transcription factors, specifically SIX1 and SIX6. DACH2 acts as a corepressor for SIX6, controlling cell proliferation by directly suppressing the activity of cyclin-dependent kinase inhibitors, including the p27Kip1 promoter. This corepression mechanism involves the recruitment of DACH2 and SIX6 to the p27Kip1 promoter in the developing retina, alongside other proteins such as NCOR1, TBL1, HDAC1, and HDAC3. DACH2 also participates in muscle development (myogenesis) in conjunction with PAX3, SIX1, and EYA2. In the developing somites, the expression of both DACH2 and PAX3 is regulated by the overlying ectoderm, with each gene positively influencing the expression of the other. DACH2 likely binds to DNA through its DACHbox-N domain.
DACH2 is also known as -.
Associated Diseases
- idiopathic hypereosinophilic syndrome
- immunodeficiency 75
- severe combined immunodeficiency due to DCLRE1C deficiency
- Matthew-Wood syndrome
- Meacham syndrome
- cancer
- Huntington disease