GATA binding protein 3
The protein product ne is a zinc finger transcription factor. Truncating mutations are responsible for autosomal dominant HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia).
Genetests:
Related Diseases:
References:
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Muroya K et al. (2001) GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.
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Nakamura Y et al. (1999) Gene expression of the GATA-3 transcription factor is increased in atopic asthma.
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Zhang DH et al. (1998) Differential responsiveness of the IL-5 and IL-4 genes to transcription factor GATA-3.
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4. |
Zhang DH et al. (1997) Transcription factor GATA-3 is differentially expressed in murine Th1 and Th2 cells and controls Th2-specific expression of the interleukin-5 gene.
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5. |
Zheng W et al. (1997) The transcription factor GATA-3 is necessary and sufficient for Th2 cytokine gene expression in CD4 T cells.
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6. |
Copeland NG et al. (1993) A genetic linkage map of the mouse: current applications and future prospects.
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7. |
Labastie MC et al. (1994) Structure and expression of the human GATA3 gene.
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8. |
Siegel MD et al. (1995) Activation of the interleukin-5 promoter by cAMP in murine EL-4 cells requires the GATA-3 and CLE0 elements.
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9. |
Pandolfi PP et al. (1995) Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis.
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10. |
Joulin V et al. (1991) A T-cell specific TCR delta DNA binding protein is a member of the human GATA family.
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11. |
Marine J et al. (1991) The human enhancer-binding protein Gata3 binds to several T-cell receptor regulatory elements.
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12. |
Ali A et al. (2007) Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
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13. |
Kouros-Mehr H et al. (2006) GATA-3 maintains the differentiation of the luminal cell fate in the mammary gland.
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14. |
Chen GY et al. (2006) Interaction of GATA-3/T-bet transcription factors regulates expression of sialyl Lewis X homing receptors on Th1/Th2 lymphocytes.
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15. |
Hwang ES et al. (2005) T helper cell fate specified by kinase-mediated interaction of T-bet with GATA-3.
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16. |
Van Esch H et al. (2000) GATA3 haplo-insufficiency causes human HDR syndrome.
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17. |
Hernández AM et al. (2007) Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.
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18. |
Ferraris S et al. (2009) HDR syndrome: a novel "de novo" mutation in GATA3 gene.
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Sun Y et al. (2009) Germinal mosaicism of GATA3 in a family with HDR syndrome.
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20. |
Fields PE et al. (2002) Cutting edge: changes in histone acetylation at the IL-4 and IFN-gamma loci accompany Th1/Th2 differentiation.
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21. |
Lim KC et al. (2000) Gata3 loss leads to embryonic lethality due to noradrenaline deficiency of the sympathetic nervous system.
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Tong Q et al. (2000) Function of GATA transcription factors in preadipocyte-adipocyte transition.
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Kaufman CK et al. (2003) GATA-3: an unexpected regulator of cell lineage determination in skin.
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Pai SY et al. (2003) Critical roles for transcription factor GATA-3 in thymocyte development.
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Nesbit MA et al. (2004) Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
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van der Wees J et al. (2004) Hearing loss following Gata3 haploinsufficiency is caused by cochlear disorder.
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Zhu J et al. (2004) Conditional deletion of Gata3 shows its essential function in T(H)1-T(H)2 responses.
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Chiu WY et al. (2006) Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population.
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Orphanet article
Orphanet ID 122033
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NCBI article
NCBI 2625
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31. |
OMIM.ORG article
Omim 131320
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32. |
Wikipedia article
Wikipedia EN (GATA3)
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Update: Aug. 14, 2020