InnateDB Protein
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IDBP-476078.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GATA2
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Protein Name
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GATA binding protein 2
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Synonyms
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DCML; IMD21; MONOMAC; NFE1B;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000417074
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InnateDB Gene
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IDBG-55213 (GATA2)
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Protein Structure
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Function |
Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'.
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Subcellular Localization |
Nucleus.
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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.
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Tissue Specificity |
Endothelial cells.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
36
[view]
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Protein-DNA |
9
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
19 [view]
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Molecular Function |
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Biological Process |
GO:0006351
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transcription, DNA-templated
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GO:0006355
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regulation of transcription, DNA-templated
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GO:0007596
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blood coagulation
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GO:0035854
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eosinophil fate commitment
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GO:0045599
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negative regulation of fat cell differentiation
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GO:0045746
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negative regulation of Notch signaling pathway
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GO:0045766
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positive regulation of angiogenesis
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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GO:0050766
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positive regulation of phagocytosis
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GO:0070345
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negative regulation of fat cell proliferation
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GO:2000178
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negative regulation of neural precursor cell proliferation
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Cellular Component |
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PDB ID |
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InterPro |
IPR000679
Zinc finger, GATA-type
IPR016374
Transcription factor, GATA-1/2/3
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PFAM |
PF00320
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PRINTS |
PR00619
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PIRSF |
PIRSF003027
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SMART |
SM00401
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TIGRFAMs |
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Modification |
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SwissProt |
P23769
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PhosphoSite |
PhosphoSite-P23769
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TrEMBL |
C9J965
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UniProt Splice Variant |
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Entrez Gene |
2624
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UniGene |
Hs.709024
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RefSeq |
NP_001139133
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HUGO |
HGNC:4171
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OMIM |
137295
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CCDS |
CCDS3049
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HPRD |
00673
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IMGT |
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EMBL |
AC080005
AK314826
BC002557
BC015577
BC015613
BC018988
BC051272
BC051342
BT006671
CH471052
M68891
M77810
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GenPept |
AAA35868
AAA35869
AAH02557
AAH15577
AAH15613
AAH18988
AAH51272
AAH51342
AAP35317
BAG37347
EAW79313
EAW79314
EAW79315
EAW79316
EAW79317
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