InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GATA2

Summary

InnateDB Protein

IDBP-55215.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GATA2

Protein Name

GATA binding protein 2

Synonyms

DCML; IMD21; MONOMAC; NFE1B;

Species

Homo sapiens

Ensembl Protein

ENSP00000345681

InnateDB Gene

IDBG-55213 (GATA2)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

Nucleus.

Disease Associations

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:0000269PubMed:21670465}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:21892158}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:21892162}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Endothelial cells.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
They are also associated with 19 interaction(s) predicted by orthology.

Experimentally validated
Total	45 [view]
Protein-Protein	36 [view]
Protein-DNA	9 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	19 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001158	enhancer sequence-specific DNA binding
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0008270	zinc ion binding
GO:0043565	sequence-specific DNA binding
GO:0070742	C2H2 zinc finger domain binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001655	urogenital system development
GO:0001709	cell fate determination
GO:0001892	embryonic placenta development
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006909	phagocytosis
GO:0007596	blood coagulation
GO:0021514	ventral spinal cord interneuron differentiation
GO:0021533	cell differentiation in hindbrain
GO:0021902	commitment of neuronal cell to specific neuron type in forebrain
GO:0021954	central nervous system neuron development
GO:0021983	pituitary gland development
GO:0030154	cell differentiation
GO:0030182	neuron differentiation
GO:0035019	somatic stem cell maintenance
GO:0035065	regulation of histone acetylation
GO:0035854	eosinophil fate commitment
GO:0042472	inner ear morphogenesis
GO:0045599	negative regulation of fat cell differentiation
GO:0045638	negative regulation of myeloid cell differentiation
GO:0045648	positive regulation of erythrocyte differentiation
GO:0045650	negative regulation of macrophage differentiation
GO:0045654	positive regulation of megakaryocyte differentiation
GO:0045746	negative regulation of Notch signaling pathway
GO:0045766	positive regulation of angiogenesis
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048469	cell maturation
GO:0048663	neuron fate commitment
GO:0048873	homeostasis of number of cells within a tissue
GO:0050766	positive regulation of phagocytosis
GO:0060216	definitive hemopoiesis
GO:0060872	semicircular canal development
GO:0070345	negative regulation of fat cell proliferation
GO:0097154	GABAergic neuron differentiation
GO:2000178	negative regulation of neural precursor cell proliferation
GO:2000977	regulation of forebrain neuron differentiation