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GATA6
Identifiers
Aliases	GATA6, GATA binding protein 6
External IDs	OMIM: 601656; MGI: 107516; HomoloGene: 68449; GeneCards: GATA6; OMA:GATA6 - orthologs
Gene location (Human) Chr. Chromosome 18 (human) Band 18q11.2 Start 22,169,589 bp End 22,202,528 bp
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18 A1|18 5.63 cM Start 11,052,064 bp End 11,085,635 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in germinal epithelium parietal pleura jejunal mucosa pylorus right ventricle cardiac muscle tissue of right atrium right ovary left ovary lower lobe of lung left adrenal gland Top expressed in atrium atrioventricular valve epithelium of stomach endocardial cushion right ventricle pyloric antrum migratory enteric neural crest cell morula semi-lunar valve septum transversum More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription factor activity zinc ion binding transcription factor binding chromatin binding metal ion binding protein binding transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding protein kinase binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific cis-regulatory region sequence-specific DNA binding Cellular component transcription regulator complex nucleoplasm nucleus nuclear membrane Biological process club cell differentiation male gonad development regulation of transcription, DNA-templated epithelial cell differentiation endodermal cell differentiation negative regulation of transforming growth factor beta1 production cardiac muscle tissue development pancreatic A cell differentiation cardiac muscle cell differentiation cardiac vascular smooth muscle cell differentiation cellular response to BMP stimulus endodermal cell fate determination blood coagulation in utero embryonic development negative regulation of transcription by RNA polymerase II transcription by RNA polymerase II negative regulation of transforming growth factor beta2 production tube morphogenesis negative regulation of apoptotic process smooth muscle cell differentiation transcription, DNA-templated positive regulation of angiogenesis outflow tract septum morphogenesis response to estrogen animal organ formation positive regulation of cardiac muscle cell proliferation cardiac muscle hypertrophy in response to stress intestinal epithelial cell differentiation positive regulation of BMP signaling pathway positive regulation of cardioblast differentiation regulation of gene expression phospholipid metabolic process liver development pancreas development response to growth factor type II pneumocyte differentiation lung saccule development negative regulation of transcription, DNA-templated cellular response to hypoxia type B pancreatic cell differentiation cellular response to gonadotropin stimulus positive regulation of transcription by RNA polymerase II positive regulation of transcription, DNA-templated positive regulation of cardiac muscle myoblast proliferation heart development animal organ morphogenesis tissue development cell development anatomical structure formation involved in morphogenesis digestive tract development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2627 14465 Ensembl ENSG00000141448 ENSMUSG00000005836 UniProt Q92908 Q61169 RefSeq (mRNA) NM_005257 NM_010258 RefSeq (protein) NP_005248 NP_034388 Location (UCSC) Chr 18: 22.17 – 22.2 Mb Chr 18: 11.05 – 11.09 Mb PubMed search
Wikidata
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Transcription factor GATA-6, also known as GATA-binding factor 6 (GATA6), is protein that in humans is encoded by the GATA6 gene. The gene product preferentially binds (A/T/C)GAT(A/T)(A) of the consensus binding sequence.

Clinical significance

Mutations in the gene have been linked with pancreatic agenesis and congenital heart defects.

Lung Endodermal Epithelial Development

GATA-6, a zinc finger transcription factor, is important in the endodermal differentiation of organ tissues. It is also indicated in proper lung development by controlling the late differentiation stages of alveolar epithelium and aquaporin-5 promoter activation. Furthermore, GATA-6 has been linked to the production of LIF, a cytokine that encourages proliferation of endodermal embryonic stem cells and blocks early epiblast differentiation. If left unregulated in the developing embryo, this cytokine production and chemical signal contributes to the phenotypes discussed further below.

Upon the disruption of GATA-6 in an embryo, the distal lung epithelial development is stunted in transgenic mice models The progenitor cells, or stem cells, for alveolar epithelial tissues develop and are specified appropriately, however further differentiation does not occur. Also the distal-proximal bronchiole development is affected, resulting in a reduced quantity of airway exchange sites.

This branching deficit, which will cause bilateral pulmonary hypoplasia after birth, has been locally associated with areas lacking differentiated alveolar epithelium, implicating this phenotype as inherent to endodermal function, and thus may be indirectly linked to improper GATA-6 expression. That is, a deficit of bronchiole branching may not be a result of direct transcriptional error in GATA-6, but rather a side effect of such an error.

See also

• GATA transcription factor

References

1. ^ GRCh38: Ensembl release 89: ENSG00000141448 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000005836 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: GATA6 GATA binding protein 6".
6. Sakai Y, Nakagawa R, Sato R, Maeda M (1998). "Selection of DNA binding sites for human transcriptional regulator GATA-6". Biochem Biophys Res Commun. 250 (3): 682–688. doi:10.1006/bbrc.1998.9374. PMID 9784406.
7. Chao CS, McKnight KD, Cox KL, Chang AL, Kim SK, Feldman BJ (2015). "Novel GATA6 Mutations in Patients with Pancreatic Agenesis and Congenital Heart Malformations". PLOS ONE. 10 (2): e0118449. Bibcode:2015PLoSO..1018449C. doi:10.1371/journal.pone.0118449. PMC 4338276. PMID 25706805.
8. ^ Yang H, Lu MM, Zhang L, Whitsett JA, Morrisey EE (May 2002). "GATA6 regulates differentiation of distal lung epithelium". Development. 129 (9): 2233–46. doi:10.1242/dev.129.9.2233. PMID 11959831.
9. Morgani SM, Brickman JM (October 2015). "LIF supports primitive endoderm expansion during pre-implantation development". Development. 142 (20): 3488–99. doi:10.1242/dev.125021. hdl:20.500.11820/9c72866a-3d10-4e07-89eb-1c0bb12a18e5. PMID 26395492.
10. Keijzer R, van Tuyl M, Meijers C, Post M, Tibboel D, Grosveld F, Koutsourakis M (February 2001). "The transcription factor GATA6 is essential for branching morphogenesis and epithelial cell differentiation during fetal pulmonary development". Development. 128 (4): 503–11. doi:10.1242/dev.128.4.503. hdl:1765/9590. PMID 11171334.
11. Rennie J (2012). Rennie & Robertson's Textbook on Neonatology. Elsevier Health Sciences. ISBN 978-0-7020-3479-4.

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Suzuki E, Evans T, Lowry J, Truong L, Bell DW, Testa JR, Walsh K (1997). "The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals". Genomics. 38 (3): 283–90. doi:10.1006/geno.1996.0630. PMID 8975704.
• Huggon IC, Davies A, Gove C, Moscoso G, Moniz C, Foss Y, Farzaneh F, Towner P (1997). "Molecular cloning of human GATA-6 DNA binding protein: high levels of expression in heart and gut". Biochim. Biophys. Acta. 1353 (2): 98–102. doi:10.1016/s0167-4781(97)00049-3. PMID 9294001.
• Yoshida T, Sato R, Mahmood S, Kawasaki S, Futai M, Maeda M (1997). "GATA-6 DNA binding protein expressed in human gastric adenocarcinoma MKN45 cells". FEBS Lett. 414 (2): 333–7. Bibcode:1997FEBSL.414..333Y. doi:10.1016/S0014-5793(97)01017-X. PMID 9315713. S2CID 31858845.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Wada H, Hasegawa K, Morimoto T, Kakita T, Yanazume T, Sasayama S (2000). "A p300 protein as a coactivator of GATA-6 in the transcription of the smooth muscle-myosin heavy chain gene". J. Biol. Chem. 275 (33): 25330–5. doi:10.1074/jbc.M000828200. PMID 10851229.
• Crawford SE, Qi C, Misra P, Stellmach V, Rao MS, Engel JD, Zhu Y, Reddy JK (2002). "Defects of the heart, eye, and megakaryocytes in peroxisome proliferator activator receptor-binding protein (PBP) null embryos implicate GATA family of transcription factors". J. Biol. Chem. 277 (5): 3585–92. doi:10.1074/jbc.M107995200. PMID 11724781.
• Liu C, Glasser SW, Wan H, Whitsett JA (2002). "GATA-6 and thyroid transcription factor-1 directly interact and regulate surfactant protein-C gene expression". J. Biol. Chem. 277 (6): 4519–25. doi:10.1074/jbc.M107585200. PMID 11733512.
• Kiiveri S, Liu J, Westerholm-Ormio M, Narita N, Wilson DB, Voutilainen R, Heikinheimo M (2003). "Transcription factors GATA-4 and GATA-6 during mouse and human adrenocortical development". Endocr. Res. 28 (4): 647–50. doi:10.1081/ERC-120016980. PMID 12530677. S2CID 22011163.
• Chang DF, Belaguli NS, Iyer D, Roberts WB, Wu SP, Dong XR, Marx JG, Moore MS, Beckerle MC, Majesky MW, Schwartz RJ (2003). "Cysteine-rich LIM-only proteins CRP1 and CRP2 are potent smooth muscle differentiation cofactors". Dev. Cell. 4 (1): 107–18. doi:10.1016/S1534-5807(02)00396-9. PMID 12530967.
• Nemer G, Nemer M (2003). "Transcriptional activation of BMP-4 and regulation of mammalian organogenesis by GATA-4 and -6". Dev. Biol. 254 (1): 131–48. doi:10.1016/S0012-1606(02)00026-X. PMID 12606287.
• Abe M, Hasegawa K, Wada H, Morimoto T, Yanazume T, Kawamura T, Hirai M, Furukawa Y, Kita T (2003). "GATA-6 is involved in PPARgamma-mediated activation of differentiated phenotype in human vascular smooth muscle cells". Arterioscler. Thromb. Vasc. Biol. 23 (3): 404–10. doi:10.1161/01.ATV.0000059405.51042.A0. hdl:2433/147514. PMID 12615657.
• Ketola I, Toppari J, Vaskivuo T, Herva R, Tapanainen JS, Heikinheimo M (2003). "Transcription factor GATA-6, cell proliferation, apoptosis, and apoptosis-related proteins Bcl-2 and Bax in human fetal testis". J. Clin. Endocrinol. Metab. 88 (4): 1858–65. doi:10.1210/jc.2002-021647. PMID 12679484.
• Siltanen S, Heikkilä P, Bielinska M, Wilson DB, Heikinheimo M (2004). "Transcription factor GATA-6 is expressed in malignant endoderm of pediatric yolk sac tumors and in teratomas". Pediatr. Res. 54 (4): 542–6. doi:10.1203/01.PDR.0000081295.56529.E9. PMID 12867597.
• Liu C, Ikegami M, Stahlman MT, Dey CR, Whitsett JA (2003). "Inhibition of alveolarization and altered pulmonary mechanics in mice expressing GATA-6". Am. J. Physiol. Lung Cell Mol. Physiol. 285 (6): L1246–54. doi:10.1152/ajplung.00443.2002. PMID 12909592.
• Benchabane H, Wrana JL (2003). "GATA- and Smad1-Dependent Enhancers in the Smad7 Gene Differentially Interpret Bone Morphogenetic Protein Concentrations". Mol. Cell. Biol. 23 (18): 6646–61. doi:10.1128/MCB.23.18.6646-6661.2003. PMC 193708. PMID 12944489.
• Jimenez P, Saner K, Mayhew B, Rainey WE (2003). "GATA-6 is expressed in the human adrenal and regulates transcription of genes required for adrenal androgen biosynthesis". Endocrinology. 144 (10): 4285–8. doi:10.1210/en.2003-0472. PMID 12959982.
• Saner KJ, Suzuki T, Sasano H, Pizzey J, Ho C, Strauss JF, Carr BR, Rainey WE (2005). "Steroid sulfotransferase 2A1 gene transcription is regulated by steroidogenic factor 1 and GATA-6 in the human adrenal". Mol. Endocrinol. 19 (1): 184–97. doi:10.1210/me.2003-0332. PMID 15388788.
• Kiiveri S, Liu J, Heikkilä P, Arola J, Lehtonen E, Voutilainen R, Heikinheimo M (2005). "Transcription factors GATA-4 and GATA-6 in human adrenocortical tumors". Endocr. Res. 30 (4): 919–23. doi:10.1081/ERC-200044149. PMID 15666845. S2CID 27526305.

External links

• GATA6+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

• Genes on human chromosome 18
• Transcription factors