Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Endothelial transcription factor GATA-2

The GATA2 gene encodes a transcription factor. Mutations cause autosomal dominant disoders such as susceptibility to myelodysplasia and acute leukemia, immunodeficiency 21, and Emberger syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Emberger syndrome
GATA2
Immunodeficiency 21
GATA2
Susceptibility to acute myeloid leukemia
GATA2
Susceptibility to myelodysplastic syndrome
GATA2

References:

1.

Tong Q et al. (2000) Function of GATA transcription factors in preadipocyte-adipocyte transition.

[^]
2.

Mansour S et al. (2010) Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.

[^]
3.

Ostergaard P et al. (2011) Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

[^]
4.

Hahn CN et al. (2011) Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

[^]
5.

Biron CA et al. (1989) Severe herpesvirus infections in an adolescent without natural killer cells.

[^]
6.

Vinh DC et al. (2010) Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.

[^]
7.

Bigley V et al. (2011) The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency.

[^]
8.

Hsu AP et al. (2011) Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

[^]
9.

Dickinson RE et al. (2011) Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

[^]
10.

Johnson KD et al. (2012) Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity.

[^]
11.

Mace EM et al. (2013) Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

[^]
12.

Dorfman DM et al. (1992) Human transcription factor GATA-2. Evidence for regulation of preproendothelin-1 gene expression in endothelial cells.

[^]
13.

Lee ME et al. (1991) Cloning of the GATA-binding protein that regulates endothelin-1 gene expression in endothelial cells.

[^]
14.

Tsai FY et al. (1994) An early haematopoietic defect in mice lacking the transcription factor GATA-2.

[^]
15.

Briegel K et al. (1993) Ectopic expression of a conditional GATA-2/estrogen receptor chimera arrests erythroid differentiation in a hormone-dependent manner.

[^]
16.

Ciciotte SL et al. (1997) Gata2 maps to mouse chromosome 6.

[^]
17.

Zhou Y et al. (1998) Rescue of the embryonic lethal hematopoietic defect reveals a critical role for GATA-2 in urogenital development.

[^]
18.

Dasen JS et al. (1999) Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell types.

[^]
19.

Wieser R et al. (2000) Transcription factor GATA-2 gene is located near 3q21 breakpoints in myeloid leukemia.

[^]
20.

Chun TH et al. (2003) Modification of GATA-2 transcriptional activity in endothelial cells by the SUMO E3 ligase PIASy.

[^]
21.

Connelly JJ et al. (2006) GATA2 is associated with familial early-onset coronary artery disease.

[^]
22.

Pimanda JE et al. (2007) Gata2, Fli1, and Scl form a recursively wired gene-regulatory circuit during early hematopoietic development.

[^]
23.

Zhang SJ et al. (2008) Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia.

[^]
24.

Mammoto A et al. (2009) A mechanosensitive transcriptional mechanism that controls angiogenesis.

[^]
25.

Kazenwadel J et al. (2012) Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

[^]
26.

Brenner S et al. (2015) Transcriptional regulation of the α-synuclein gene in human brain tissue.

[^]
27.

Orphanet article

Orphanet ID 274222 [^]
28.

NCBI article

NCBI 2624 [^]
29.

OMIM.ORG article

Omim 137295 [^]
30.

Wikipedia article

Wikipedia EN (GATA2) [^]
Update: April 29, 2019