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MGP001162

UniProt Annotations

Entry Information

Gene Name	GATA binding protein 2
Protein Entry	GATA2_HUMAN
UniProt ID	P23769
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P23769-1; Sequence=Displayed; Name=2; IsoId=P23769-2; Sequence=VSP_041126;
Disease	Immunodeficiency 21 (IMD21) [MIM:614172]: 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. {ECO:0000269\|PubMed:21670465}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	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. {ECO:0000269\|PubMed:21892158}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	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). {ECO:0000269\|PubMed:21892162}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'.
Interaction	P25801:Lmo2 (xeno); NbExp=3; IntAct=EBI-2806671, EBI-3903256; Q13485:SMAD4; NbExp=2; IntAct=EBI-2806671, EBI-347263;
Sequence Caution	Sequence=AAA35869.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors.; Evidence={ECO:0000305};
Similarity	Contains 2 GATA-type zinc fingers. {ECO:0000255\|PROSITE-ProRule:PRU00094}.
Subcellular Location	Nucleus.
Subunit	Interacts with BRD3. {ECO:0000250}.
Tissue Specificity	Endothelial cells.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GATA2ID44160ch3q21.html";