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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.

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

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2.

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

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3.

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.

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.

Orphanet article

Orphanet ID 274222 external link
28.

NCBI article

NCBI 2624 external link
29.

OMIM.ORG article

Omim 137295 external link
30.

Wikipedia article

Wikipedia EN (GATA2) external link
Update: Aug. 14, 2020
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