GATA2

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

GATA binding protein 2

Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'.

Cell differentiation in hindbrain Source: Ensembl
Cell fate commitment Source: GO_Central
Cell fate determination Source: Ensembl
Cell maturation Source: Ensembl
Central nervous system neuron development Source: Ensembl
Cochlea development Source: Ensembl
Commitment of neuronal cell to specific neuron type in forebrain Source: Ensembl
Definitive hemopoiesis Source: Ensembl
Embryonic placenta development Source: Ensembl
Eosinophil fate commitment Source: BHF-UCL
GABAergic neuron differentiation Source: Ensembl
Homeostasis of number of cells within a tissue Source: Ensembl
Inner ear morphogenesis Source: Ensembl
Negative regulation of endothelial cell apoptotic process Source: BHF-UCL
Negative regulation of fat cell differentiation Source: UniProtKB
Negative regulation of fat cell proliferation Source: UniProtKB
Negative regulation of gene expression Source: BHF-UCL
Negative regulation of macrophage differentiation Source: Ensembl
Negative regulation of neural precursor cell proliferation Source: MGI
Negative regulation of Notch signaling pathway Source: MGI
Negative regulation of transcription by RNA polymerase II Source: Ensembl
Neuron migration Source: Ensembl
Phagocytosis Source: UniProtKB-KW
Pituitary gland development Source: Ensembl
Positive regulation of angiogenesis Source: MGI
Positive regulation of blood vessel endothelial cell migration Source: BHF-UCL
Positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis Source: BHF-UCL
Positive regulation of cell migration involved in sprouting angiogenesis Source: BHF-UCL
Positive regulation of cytosolic calcium ion concentration Source: Ensembl
Positive regulation of erythrocyte differentiation Source: Ensembl
Positive regulation of gene expression Source: BHF-UCL
Positive regulation of mast cell degranulation Source: Ensembl
Positive regulation of megakaryocyte differentiation Source: Ensembl
Positive regulation of neuron differentiation Source: Ensembl
Positive regulation of phagocytosis Source: UniProtKB
Positive regulation of phagocytosis, engulfment Source: Ensembl
Positive regulation of pri-miRNA transcription by RNA polymerase II Source: BHF-UCL
Positive regulation of transcription by RNA polymerase II Source: UniProtKB
Regulation of forebrain neuron differentiation Source: Ensembl
Regulation of histone acetylation Source: Ensembl
Regulation of primitive erythrocyte differentiation Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central
Response to lipid Source: Ensembl
Semicircular canal development Source: Ensembl
Somatic stem cell population maintenance Source: Ensembl
Urogenital system development Source: Ensembl
Vascular wound healing Source: BHF-UCL
Ventral spinal cord interneuron differentiation Source: Ensembl

Nucleus

Immunodeficiency 21 (IMD21):
An immunodeficiency disease characterized by profoundly decreased or absent monocytes, B-lymphocytes, natural killer lymphocytes, and circulating and tissue dendritic cells, with little or no effect on T-cell numbers. Clinical features of DCML include susceptibility to disseminated non-tuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. This syndrome links susceptibility to mycobacterial, viral, and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern.
Lymphedema, primary, with myelodysplasia (LMPM):
A chronic disabling condition characterized by swelling of the extremities due to altered lymphatic flow, associated with myelodysplasia. Patients with lymphedema suffer from recurrent local infections, and physical impairment.
Myelodysplastic syndrome (MDS):
A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML).