GATA2

GATA2
Identifiers
Aliases	GATA2, DCML, IMD21, MONOMAC, NFE1B, GATA binding protein 2
External IDs	OMIM: 137295 MGI: 95662 HomoloGene: 32030 GeneCards: GATA2
Gene location (Human)
Chr.	Chromosome 3 (human)
End	128,493,201 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	88,184,014 bp
RNA expression pattern
	Top expressed in
	seminal vesicula; ; right lung; ; left uterine tube; ; renal medulla; ; prostate; ; urethra; ; canal of the cervix; ; upper lobe of left lung; ; placenta; ; sperm;
	Top expressed in
	seminal vesicula; ; medullary collecting duct; ; placenta; ; vas deferens; ; inner renal medulla; ; uterus; ; lung; ; spermatid; ; semi-lunar valve; ; superior cervical ganglion;
	More reference expression data
	n/a
Gene ontology
Molecular function	RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA binding; sequence-specific DNA binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity; DNA-binding transcription activator activity, RNA polymerase II-specific; zinc ion binding; transcription factor binding; chromatin binding; C2H2 zinc finger domain binding; metal ion binding; protein binding; cis-regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	transcription regulator complex; nucleoplasm; nucleus; cytoplasm; protein-containing complex;
Biological process	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
	2624
	14461
	ENSG00000179348
	ENSMUSG00000015053
	P23769
	O09100
	NM_032638; NM_001145661; NM_001145662
	NM_008090; NM_001355253
	NP_001139133; NP_001139134; NP_116027
	NP_032116; NP_001342182
	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. 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.

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.

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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.