GATA2
Description
The GATA2 (GATA binding protein 2) is a protein-coding gene located on chromosome 3.
GATA2 is a transcription factor that plays a crucial role in the development and function of various cell types, including blood-forming, lymphatic, and other stem cells. It is encoded by the GATA2 gene, which is often affected by mutations leading to a range of familial and sporadic diseases. GATA2 deficiency, caused by inactivating mutations in the GATA2 gene, results in a spectrum of hematological, immunological, lymphatic, and other disorders. These disorders can begin with seemingly minor abnormalities but can progress to life-threatening conditions, including opportunistic infections, cancers, lung failure, and leukemia.
GATA2 is a transcriptional activator that regulates the expression of the endothelin-1 gene in endothelial cells. It binds to the consensus sequence 5'-AGATAG-3'.
GATA2 is also known as DCML, IMD21, MONOMAC, NFE1B.
Associated Diseases
- Lymphedema, primary, with myelodysplasia
- Immunodeficiency 21
- Myelodysplastic syndrome
- Leukemia, acute myeloid
- Unclassified myelodysplastic syndrome
