BACH2
Function
Transcriptional regulator that acts as a repressor or activator (By similarity). Binds to Maf recognition elements (MARE) (By similarity). Plays an important role in coordinating transcription activation and repression by MAFK (By similarity). Induces apoptosis in response to oxidative stress through repression of the antiapoptotic factor HMOX1 (PubMed:17018862). Positively regulates the nuclear import of actin (By similarity). Is a key regulator of adaptive immunity, crucial for the maintenance of regulatory T-cell function and B-cell maturation (PubMed:28530713).
Involvement in disease
Immunodeficiency 60 and autoimmunity
IMD60
An autosomal dominant primary immunologic disorder characterized by intestinal inflammation, recurrent sino-pulmonary infections, impaired lymphocyte maturation, and variably decreased immunoglobulin production.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylation at Ser-521 downstream of the PI-3K pathway promotes nuclear export.
The reversible disulfide bond may provide a mechanism to regulate the activity in oxidative stress responses.
Sequence Similarities
Belongs to the bZIP family. CNC subfamily.
Tissue Specificity
B-cell specific.
Cellular localization
- Cytoplasm
- Nucleus
- Nucleocytoplasmic shuttling is controlled by phosphorylation.
Alternative names
Transcription regulator protein BACH2, BTB and CNC homolog 2, BACH2