| Name | GATA binding protein 3 |
| Symbol | GATA3 |
| Aliases | HDR; MGC5445; GATA-binding protein 3 |
| Gene Product | |
| Category | |
| UniGene |
Hs.169946
|
| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| Gene Ontology | |
| Expression | | EST (169 ESTs, 71 libraries) |
| Tissue | Breadth ? |
CPM ? |
| blood |  | | | brain | | | | cervix | | | | ear | | | | eye | | | | germ cell | | | | head and neck | | | | heart | | | | kidney |  | | | liver | | | | lung | | | | lymph node | | | | mammary gland | | | | nervous | | | | parathyroid | | | | placenta | | | | prostate | | | | skin | | | | stomach | | | | thymus | | | | thyroid | | | | uncharacterized tissue | | | | uterus | | | | vascular | | |
|
| SAGE (6571945 tags, 134 libraries) |
| Tissue | Breadth ? |
CPM ? |
| brain | | | | cerebellum | | | | cervix | | | | colon | | | | eye | | | | heart | | | | kidney | | | | lung | | | | mammary gland | | | | nervous | | | | ovary | | | | pancreas | | | | prostate | | | | skin | | | | uncharacterized tissue | | | | vascular | | |
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| Evidence | Deletion in System Syndrom with Kidney Involvment
- Igarashi T, Inatomi J, Ohara T, Kuwahara T, Shimadzu M, Thakker RV, Igarashi T, Inatomi J, Ohara T, Kuwahara T, Shimadzu M, Thakker RV, Igarashi T, Inatomi J, Ohara T, Kuwahara T, Shimadzu M, Thakker RV Clinical and genetic studies of CLCN5 mutations in Japanese families withDent's disease. Kidney Int 2000 Aug;58(2):520-7.
Mutation in System Syndrom with Kidney Involvment
- Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet 2001 Jun;38(6):374-80.
- Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K, Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K GATA3 haplo-insufficiency causes human HDR syndrome. Nature 2000 Jul 27;406(6794):419-22.
Other key publications related to this gene
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