Aliases for GATA2 Gene
External Ids for GATA2 Gene
Previous GeneCards Identifiers for GATA2 Gene
This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
GATA2 is a transcription factor involved in stem cell maintenance with key roles in hematopoietic development. GATA2 mutations are associated with a variety of inherited and acquired immune disorders including myelodysplastic syndrome and acute myeloid leukemia. In addition to a role in hematopoiesis, the maintenance GATA2 expression has been implicated as a requirement in KRAS-driven non-small cell lung cancer. Preclinical models have indicated therapeutic benefit from targeting GATA2-mediated pathways in the context of KRAS-driven NSCLC.
GeneCards Summary for GATA2 Gene
GATA2 (GATA Binding Protein 2) is a Protein Coding gene. Diseases associated with GATA2 include Immunodeficiency 21 and Lymphedema, Primary, With Myelodysplasia. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is GATA3.
UniProtKB/Swiss-Prot Summary for GATA2 Gene
Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'.