commitment of neuronal cell to specific neuron type in forebrain
positive regulation of phagocytosis
cell differentiation
negative regulation of fat cell differentiation
pituitary gland development
positive regulation of phagocytosis, engulfment
regulation of transcription, DNA-templated
positive regulation of erythrocyte differentiation
somatic stem cell population maintenance
negative regulation of macrophage differentiation
GABAergic neuron differentiation
positive regulation of cytosolic calcium ion concentration
negative regulation of fat cell proliferation
negative regulation of neural precursor cell proliferation
embryonic placenta development
neuron migration
blood coagulation
negative regulation of transcription by RNA polymerase II
cell maturation
semicircular canal development
transcription, DNA-templated
regulation of primitive erythrocyte differentiation
ventral spinal cord interneuron differentiation
response to lipid
cell differentiation in hindbrain
central nervous system neuron development
inner ear morphogenesis
positive regulation of neuron differentiation
regulation of histone acetylation
neuron differentiation
regulation of forebrain neuron differentiation
phagocytosis
urogenital system development
cell fate determination
homeostasis of number of cells within a tissue
definitive hemopoiesis
neuron fate commitment
negative regulation of myeloid cell differentiation
positive regulation of megakaryocyte differentiation
positive regulation of transcription by RNA polymerase II
negative regulation of Notch signaling pathway
eosinophil fate commitment
positive regulation of mast cell degranulation
cochlea development
regulation of hematopoietic stem cell differentiation
positive regulation of angiogenesis
negative regulation of endothelial cell apoptotic process
positive regulation of gene expression
negative regulation of gene expression
hemopoiesis
pri-miRNA transcription by RNA polymerase II
positive regulation of cell migration involved in sprouting angiogenesis
positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis
heart development
animal organ morphogenesis
tissue development
cell development
anatomical structure formation involved in morphogenesis
positive regulation of pri-miRNA transcription by RNA polymerase II
digestive tract development
Sources:Amigo / QuickGO
Orthologs
Species
Human
Mouse
Entrez
2624
14461
Ensembl
ENSG00000179348
ENSMUSG00000015053
UniProt
P23769
O09100
RefSeq (mRNA)
NM_032638 NM_001145661 NM_001145662
NM_008090 NM_001355253
RefSeq (protein)
NP_001139133 NP_001139134 NP_116027
NP_032116 NP_001342182
Location (UCSC)
Chr 3: 128.48 – 128.49 Mb
Chr 6: 88.17 – 88.18 Mb
PubMed search
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
GATA2 or GATA-binding factor 2 is a transcription factor, i.e. a nuclear protein which regulates the expression of genes.[5] It regulates many genes that are critical for the embryonic development, self-renewal, maintenance, and functionality of blood-forming, lympathic system-forming, and other tissue-forming stem cells. GATA2 is encoded by the GATA2 gene, a gene which often suffers germline and somatic mutations which lead to a wide range of familial and sporadic diseases, respectively. The gene and its product are targets for the treatment of these diseases.[6][7]
Inactivating mutations of the GATA2 gene cause a reduction in the cellular levels of GATA2 and the development of a wide range of familial hematological, immunological, lymphatic, and/or other disorders that are grouped together into a common disease termed GATA2 deficiency. Less commonly, these disorders are associated with non-familial (i.e. sporadic or acquired) GATA inactivating mutations. GATA2 deficiency often begins with seemingly benign abnormalities but if untreated progresses to life-threatening opportunistic infections, virus-induced cancers, lung failure, the myelodysplastic syndrome (i.e. MDS), and/or acute myeloid leukemia, principally acute myeloid leukemia (AML), less commonly chronic myelomonocytic leukemia (CMML), and rarely a lymphoid leukemia.[6][7]
Overexpression of the GATA2 transcription factor that is not due to mutations in the GATA2 gene appears to be a secondary factor that promotes the aggressiveness of non-familial EVI1 positive AML as well as the progression of prostate cancer.[8][9][10][11]
^ abcGRCh38: Ensembl release 89: ENSG00000179348 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000015053 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Lee ME, Temizer DH, Clifford JA, Quertermous T (25 August 1991). "Cloning of the GATA-binding protein that regulates endothelin-1 gene expression in endothelial cells". J. Biol. Chem. 266 (24): 16188–92. doi:10.1016/S0021-9258(18)98533-9. PMID 1714909.
^ abHirabayashi S, Wlodarski MW, Kozyra E, Niemeyer CM (August 2017). "Heterogeneity of GATA2-related myeloid neoplasms". International Journal of Hematology. 106 (2): 175–182. doi:10.1007/s12185-017-2285-2. PMID 28643018.
^Vicente C, Vazquez I, Conchillo A, García-Sánchez MA, Marcotegui N, Fuster O, González M, Calasanz MJ, Lahortiga I, Odero MD (March 2012). "Overexpression of GATA2 predicts an adverse prognosis for patients with acute myeloid leukemia and it is associated with distinct molecular abnormalities". Leukemia. 26 (3): 550–4. doi:10.1038/leu.2011.235. PMID 21904383.
^Mir MA, Kochuparambil ST, Abraham RS, Rodriguez V, Howard M, Hsu AP, Jackson AE, Holland SM, Patnaik MM (April 2015). "Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations". Cancer Medicine. 4 (4): 490–9. doi:10.1002/cam4.384. PMC 4402062. PMID 25619630.
^Rodriguez-Bravo V, Carceles-Cordon M, Hoshida Y, Cordon-Cardo C, Galsky MD, Domingo-Domenech J (January 2017). "The role of GATA2 in lethal prostate cancer aggressiveness". Nature Reviews. Urology. 14 (1): 38–48. doi:10.1038/nrurol.2016.225. PMC 5489122. PMID 27872477.
^Obinata D, Takayama K, Takahashi S, Inoue S (February 2017). "Crosstalk of the Androgen Receptor with Transcriptional Collaborators: Potential Therapeutic Targets for Castration-Resistant Prostate Cancer". Cancers. 9 (3): 22. doi:10.3390/cancers9030022. PMC 5366817. PMID 28264478.
GATA2 or GATA-binding factor 2 is a transcription factor, i.e. a nuclear protein which regulates the expression of genes. It regulates many genes that...
GATA2 deficiency is a grouping of several disorders caused by common defect, namely, familial or sporadic inactivating mutations in one of the two parental...
disease state. GATA2 deficiency is a group of disorders caused by a defect, familial, or sporadic inactivating mutations, in one of the two GATA2 genes. These...
parental GATA2 genes. These autosomal dominant mutations cause a reduction, i.e. a haploinsufficiency, in the cellular levels of the gene's product, GATA2. The...
two parental GATA2 genes. The mutation results in a haploinsufficiency (i.e. reduction) in the levels of the gene's product, the GATA2 transcription...
haploinsufficiency, in the cellular levels of the gene's product, GATA2. The GATA2 protein is a transcription factor critical for the embryonic development...
MAOA gene. The promoter of MAOA contains conserved binding sites for Sp1, GATA2, and TBP. This gene is adjacent to a related gene (MAOB) on the opposite...
of the two parental GATA2 genes produces an autosomal dominant disorder termed GATA2 deficiency. The GATA2 gene produces the GATA2 transcription factor...
the presence of oxygen and iron. During normoxia GATA2 inhibits the promoter region for EPO. GATA2 levels decrease during hypoxia and allow the promotion...
parental GATA2 genes. These autosomal dominant mutations cause a reduction, i.e. a haploinsufficiency, in the cellular levels of the gene's product, GATA2. The...
the two parental GATA2 genes lead to a reduction, i.e. a haploinsufficiency, in the cellular levels of the gene's product, the GATA2 transcription factor...
specific (medium) expression levels of CD27 (in addition to high cKit, medium Gata2, and high CD31 expression levels) define the very first adult definitive...
[inv(3)(q21.3q26.2)] or internal translocations in it – [t(3;3)(q21.3;q26.2);] GATA2, MECOM Megakaryoblastic AML with translocations between chromosome 1 and...
carboxyl domains can change. In humans: GATA1 (see also GATA1) GATA2 (see also GATA2) GATA3 (see also GATA3) GATA4 (see also GATA4) GATA5 (see also GATA5)...
Hwan; Lee, Dong Soon (2019-02-04). "Monozygotic twins with shared de novo GATA2 mutation but dissimilar phenotypes due to differential promoter methylation"...
e. zinc finger protein, FOG family member 2, but also termed Friend of GATA2, Friend of GATA-2, FOG2, or FOG-2, is a protein that in humans is encoded...
transcription factor), FOG2 (a transcription factor regulator), and GATA2 (Displacement of GATA2 by GATA1, i.e. the "GATA switch", at certain gene-regulating...
hyper-IgE AR hyper-IgE Pulmonary alveolar proteinosis MonoMac syndrome (GATA2 deficiency) Several rare conditions are due to defects in the innate immune...
Wingert RA, Thisse C, Thisse B, and Zon LI (2005). "Loss of gata1 but not gata2 converts erythropoiesis to myelopoiesis in zebrafish embryos". Dev. Cell...
psychiatrist. Jewlia Eisenberg, 50, American singer (Charming Hostess), GATA2 deficiency. Lin Emery, 94, American visual artist. Petar Fajfrić, 79, Serbian...
encourage binding of various haematopoiesis related regulators such as Gata2, ETS factors (Fli-1, Elf-1, PU.1) and the SCL / Lmo2 / Ldb1 complex, as...
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