ID:GATA2_HUMAN DESCRIPTION: RecName: Full=Endothelial transcription factor GATA-2; AltName: Full=GATA-binding protein 2; FUNCTION: Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'. SUBUNIT: Interacts with BRD3 (By similarity). INTERACTION: P25801:Lmo2 (xeno); NbExp=3; IntAct=EBI-2806671, EBI-3903256; Q13485:SMAD4; NbExp=2; IntAct=EBI-2806671, EBI-347263; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Endothelial cells. DISEASE: Defects in GATA2 are the cause of dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML) [MIM:614172]. DCML is 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. DISEASE: Defects in GATA2 are a cause of lymphedema primary with myelodysplasia (LMPM) [MIM:614038]. 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. DISEASE: Defects in GATA2 are a cause of myelodysplastic syndrome (MDS) [MIM:614286]. 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). SIMILARITY: Contains 2 GATA-type zinc fingers. SEQUENCE CAUTION: Sequence=AAA35869.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GATA2ID44160ch3q21.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P23769
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
