Alt. symbols: NFE1B

Approved name: GATA binding protein 2
Alt. names: GATA-binding protein 2

Location: 3q21.3: 128479427 - 128493201 (-)
Gene type: protein_coding, 13 transcripts.

Scores: LoFtool: | pLI: 0.97976209 | LOEUF: 0.292

HGNC: 4171

NCBI: 2624, RefSeq: NG_029334.1

Ensembl: ENSG00000179348.13

LRG_295 | Status: public

OMIM: 137295

Expression | ProteinAtlas

The GATA2 gene encodes the GATA-binding factor 2, a transcription factor that binds to DNA, specifically to the consensus sequence 5'-AGATAG-3', to activate the expression of certain genes that are critical for embryonic development, maintenance, self-renewal and function of stem cells that form the blood, the lymphatic tissue and other tissues. GATA2 is ubiquitously expressed, showing a high expression in bone marrow, lymph nodes, tonsils, bronchus, brain (mostly in cerebral cortex and cerebellum), gallbladder, urinary bladder and in male (testis, prostate, seminal vesicles) and female (fallopian tube, endometrium and placenta) reproductive tissues. For instance, in bone marrow cells, GATA2 is expressed at the stem cell stage and later progenitor stage promoting the progression of these immature cells toward their mature forms as erythrocytes, lymphocytes (B cells, NK cells, and T helper cells), monocytes, neutrophils, platelets, plasmacytoid dendritic cells, macrophages and mast cells. Likewise, GATA2 is critical for the formation of valves in the lymphatic system. This gene is also expressed in endothelium regulating endothelin-1 gene expression. GATA2 is a member of the evolutionarily conserved family of GATA transcription factors (GATA1 to GATA6) that are present in all vertebrates. GATA2 has two Zinc-finger motifs to bind DNA and exert its function.

GATA2 deficiency is a group of heterogenous hematological, immunological, lymphatic, and syndromic disorders caused by inactivating mutations of the GATA2 gene. Most cases described are familial, however, sporadic or acquired mutations can also occur. Monoallelic mutations in GATA2 may cause GATA2 deficiency, a complex immunodeficiency syndrome involving both the innate (lack of monocytes) and the adaptive (T cell function) arms of the immune system. GATA2 deficiency causes a wide spectrum of ph enotypes including viral and bacterial infections, cytopenias, myelodysplasia, myeloid leukemias, pulmonary alveolar proteinosis and lymphedema. The age of clinical presentation ranges from early childhood to late adulthood, with most occurring in adolescence to early adulthood. [Load More]