GATA4

GATA binding protein 4
Identifiers
Symbols	GATA4; ASD2; VSD1
External IDs	OMIM: 600576 MGI: 95664 HomoloGene: 1551 ChEMBL: 1687679 GeneCards: GATA4 Gene
Gene Ontology
Molecular function	• RNA polymerase II regulatory region sequence-specific DNA binding; • RNA polymerase II transcription factor binding transcription factor activity; • DNA binding; • chromatin binding; • sequence-specific DNA binding transcription factor activity; • RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; • protein binding; • transcription factor binding; • zinc ion binding; • activating transcription factor binding; • sequence-specific DNA binding; • transcription regulatory region DNA binding; • metal ion binding; • co-SMAD binding;
Cellular component	• nucleus; • nucleoplasm;
Biological process	• in utero embryonic development; • gastrulation with mouth forming second; • endoderm formation; • heart looping; • atrioventricular valve morphogenesis; • endocardial cushion development; • cardiac ventricle morphogenesis; • cardiac right ventricle morphogenesis; • ventricular cardiac muscle tissue development; • ventricular septum development; • atrial septum primum morphogenesis; • atrial septum secundum morphogenesis; • regulation of transcription, DNA-dependent; • transcription from RNA polymerase II promoter; • cell-cell signaling; • spermatogenesis; • endoderm development; • blood coagulation; • male gonad development; • positive regulation vascular endothelial growth factor production; • signal transduction involved in regulation of gene expression; • BMP signaling pathway; • positive regulation of BMP signaling pathway; • embryonic heart tube anterior/posterior pattern specification; • response to drug; • response to estrogen stimulus; • positive regulation of angiogenesis; • positive regulation of transcription, DNA-dependent; • positive regulation of transcription from RNA polymerase II promoter; • embryonic digestive tract morphogenesis; • embryonic foregut morphogenesis; • positive regulation of cardioblast differentiation; • cardiac muscle cell differentiation; • Sertoli cell differentiation; • positive regulation of cardiac muscle cell proliferation; • canonical Wnt receptor signaling pathway; • SMAD protein signal transduction; • atrial septum morphogenesis; • lung lobe formation; • intestinal epithelial cell differentiation; • cellular response to follicle-stimulating hormone stimulus; • epithelial cell fate commitment; • seminiferous tubule development;
	Sources: Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs
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Transcription factor GATA-4 is a protein that in humans is encoded by the GATA4 gene.^[1]

[edit] Function

This gene encodes a member of the GATA family of zinc finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function. Mutations in this gene have been associated with cardiac septal defects as well as reproductive defects.^[2]^[3]

[edit] Interactions

GATA4 has been shown to interact with NKX2-5,^[4]^[5]^[6] TBX5,^[7] Serum response factor^[8]^[9] HAND2,^[10] and HDAC2.^[11]

[edit] Clinical relevance

Mutations in this gene have been associated to cases of congenital diaphragmatic hernia.^[12]

[edit] See also

GATA transcription factor

[edit] References

^ White RA, Dowler LL, Pasztor LM, Gatson LL, Adkison LR, Angeloni SV, Wilson DB (October 1995). "Assignment of the transcription factor GATA4 gene to human chromosome 8 and mouse chromosome 14: Gata4 is a candidate gene for Ds (disorganization)". Genomics 27 (1): 20–6. doi:10.1006/geno.1995.1003. PMID 7665171.
^ "Entrez Gene: GATA4 GATA binding protein 4". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2626.
^ Köhler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schröder V, Biebermann H, Schnabel D, Grüters A, Achermann JC (January 2008). "Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency". Hum. Mutat. 29 (1): 59–64. doi:10.1002/humu.20588. PMC 2359628. PMID 17694559.
^ Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D (July 2003). "GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5". Nature 424 (6947): 443–7. doi:10.1038/nature01827. PMID 12845333.
^ Durocher D, Charron F, Warren R, Schwartz RJ, Nemer M (September 1997). "The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors". EMBO J. 16 (18): 5687–96. doi:10.1093/emboj/16.18.5687. PMC 1170200. PMID 9312027.
^ Zhu W, Shiojima I, Hiroi Y, Zou Y, Akazawa H, Mizukami M, Toko H, Yazaki Y, Nagai R, Komuro I (November 2000). "Functional analyses of three Csx/Nkx-2.5 mutations that cause human congenital heart disease". J. Biol. Chem. 275 (45): 35291–6. doi:10.1074/jbc.M000525200. PMID 10948187.
^ Svensson EC, Tufts RL, Polk CE, Leiden JM (February 1999). "Molecular cloning of FOG-2: a modulator of transcription factor GATA-4 in cardiomyocytes". Proc. Natl. Acad. Sci. U.S.A. 96 (3): 956–61. doi:10.1073/pnas.96.3.956. PMC 15332. PMID 9927675.
^ Belaguli NS, Sepulveda JL, Nigam V, Charron F, Nemer M, Schwartz RJ (October 2000). "Cardiac tissue enriched factors serum response factor and GATA-4 are mutual coregulators". Mol. Cell. Biol. 20 (20): 7550–8. doi:10.1128/MCB.20.20.7550-7558.2000. PMC 86307. PMID 11003651.
^ Morin S, Paradis P, Aries A, Nemer M (February 2001). "Serum response factor-GATA ternary complex required for nuclear signaling by a G-protein-coupled receptor". Mol. Cell. Biol. 21 (4): 1036–44. doi:10.1128/MCB.21.4.1036-1044.2001. PMC 99558. PMID 11158291.
^ Dai YS, Cserjesi P, Markham BE, Molkentin JD (July 2002). "The transcription factors GATA4 and dHAND physically interact to synergistically activate cardiac gene expression through a p300-dependent mechanism". J. Biol. Chem. 277 (27): 24390–8. doi:10.1074/jbc.M202490200. PMID 11994297.
^ Trivedi CM, Zhu W, Wang Q, Jia C, Kee HJ, Li L, Hannenhalli S, Epstein JA (September 2010). "Hopx and Hdac2 interact to modulate Gata4 acetylation and embryonic cardiac myocyte proliferation". Dev. Cell 19 (3): 450–9. doi:10.1016/j.devcel.2010.08.012. PMC 2947937. PMID 20833366. Lay summary – Phys.Org.
^ Yu L, Wynn J, Cheung YH, Shen Y, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, Stolar C, Aspelund G, Arkovitz MS, Chung WK (November 2012). "Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia". Hum. Genet. doi:10.1007/s00439-012-1249-0. PMID 23138528.

[edit] Further reading

Evans T, Reitman M, Felsenfeld G (1988). "An erythrocyte-specific DNA-binding factor recognizes a regulatory sequence common to all chicken globin genes". Proc. Natl. Acad. Sci. U.S.A. 85 (16): 5976–80. doi:10.1073/pnas.85.16.5976. PMC 281888. PMID 3413070.
Huang WY, Cukerman E, Liew CC (1995). "Identification of a GATA motif in the cardiac alpha-myosin heavy-chain-encoding gene and isolation of a human GATA-4 cDNA". Gene 155 (2): 219–23. doi:10.1016/0378-1119(94)00893-W. PMID 7721094.
Yamagata T, Nishida J, Sakai R et al. (1995). "Of the GATA-binding proteins, only GATA-4 selectively regulates the human interleukin-5 gene promoter in interleukin-5-producing cells which express multiple GATA-binding proteins". Mol. Cell. Biol. 15 (7): 3830–9. PMC 230622. PMID 7791790.
Molkentin JD, Kalvakolanu DV, Markham BE (1994). "Transcription factor GATA-4 regulates cardiac muscle-specific expression of the alpha-myosin heavy-chain gene". Mol. Cell. Biol. 14 (7): 4947–57. PMC 358867. PMID 8007990.
Arceci RJ, King AA, Simon MC et al. (1993). "Mouse GATA-4: a retinoic acid-inducible GATA-binding transcription factor expressed in endodermally derived tissues and heart". Mol. Cell. Biol. 13 (4): 2235–46. PMC 359544. PMID 8455608.
Huang WY, Heng HH, Liew CC (1997). "Assignment of the human GATA4 gene to 8p23.1→p22 using fluorescence in situ hybridization analysis". Cytogenet. Cell Genet. 72 (2–3): 217–8. doi:10.1159/000134194. PMID 8978781.
Herzig TC, Jobe SM, Aoki H et al. (1997). "Angiotensin II type1a receptor gene expression in the heart: AP-1 and GATA-4 participate in the response to pressure overload". Proc. Natl. Acad. Sci. U.S.A. 94 (14): 7543–8. doi:10.1073/pnas.94.14.7543. PMC 23858. PMID 9207128.
Durocher D, Charron F, Warren R et al. (1997). "The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors". EMBO J. 16 (18): 5687–96. doi:10.1093/emboj/16.18.5687. PMC 1170200. PMID 9312027.
Molkentin JD, Lu JR, Antos CL et al. (1998). "A calcineurin-dependent transcriptional pathway for cardiac hypertrophy". Cell 93 (2): 215–28. doi:10.1016/S0092-8674(00)81573-1. PMID 9568714.
Svensson EC, Tufts RL, Polk CE, Leiden JM (1999). "Molecular cloning of FOG-2: a modulator of transcription factor GATA-4 in cardiomyocytes". Proc. Natl. Acad. Sci. U.S.A. 96 (3): 956–61. doi:10.1073/pnas.96.3.956. PMC 15332. PMID 9927675.
Tremblay JJ, Viger RS (1999). "Transcription factor GATA-4 enhances Müllerian inhibiting substance gene transcription through a direct interaction with the nuclear receptor SF-1". Mol. Endocrinol. 13 (8): 1388–401. doi:10.1210/me.13.8.1388. PMID 10446911.
Lin L, Aggarwal S, Glover TW et al. (2000). "A minimal critical region of the 8p22-23 amplicon in esophageal adenocarcinomas defined using sequence tagged site-amplification mapping and quantitative polymerase chain reaction includes the GATA-4 gene". Cancer Res. 60 (5): 1341–7. PMID 10728696.
Morin S, Charron F, Robitaille L, Nemer M (2000). "GATA-dependent recruitment of MEF2 proteins to target promoters". EMBO J. 19 (9): 2046–55. doi:10.1093/emboj/19.9.2046. PMC 305697. PMID 10790371.
Zhu W, Shiojima I, Hiroi Y et al. (2001). "Functional analyses of three Csx/Nkx-2.5 mutations that cause human congenital heart disease". J. Biol. Chem. 275 (45): 35291–6. doi:10.1074/jbc.M000525200. PMID 10948187.
Belaguli NS, Sepulveda JL, Nigam V et al. (2000). "Cardiac tissue enriched factors serum response factor and GATA-4 are mutual coregulators". Mol. Cell. Biol. 20 (20): 7550–8. doi:10.1128/MCB.20.20.7550-7558.2000. PMC 86307. PMID 11003651.
Morin S, Paradis P, Aries A, Nemer M (2001). "Serum response factor-GATA ternary complex required for nuclear signaling by a G-protein-coupled receptor". Mol. Cell. Biol. 21 (4): 1036–44. doi:10.1128/MCB.21.4.1036-1044.2001. PMC 99558. PMID 11158291.
Crispino JD, Lodish MB, Thurberg BL et al. (2001). "Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors". Genes Dev. 15 (7): 839–44. doi:10.1101/gad.875201. PMC 312667. PMID 11297508.
Dai YS, Markham BE (2001). "p300 Functions as a coactivator of transcription factor GATA-4". J. Biol. Chem. 276 (40): 37178–85. doi:10.1074/jbc.M103731200. PMID 11481322.
Liang Q, Wiese RJ, Bueno OF et al. (2001). "The transcription factor GATA4 is activated by extracellular signal-regulated kinase 1- and 2-mediated phosphorylation of serine 105 in cardiomyocytes". Mol. Cell. Biol. 21 (21): 7460–9. doi:10.1128/MCB.21.21.7460-7469.2001. PMC 99918. PMID 11585926.

[edit] External links

GATA4 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on chromosome 8 is a stub. You can help Wikipedia by expanding it.

[pmid7665171-1] White RA, Dowler LL, Pasztor LM, Gatson LL, Adkison LR, Angeloni SV, Wilson DB (October 1995). "Assignment of the transcription factor GATA4 gene to human chromosome 8 and mouse chromosome 14: Gata4 is a candidate gene for Ds (disorganization)". Genomics 27 (1): 20–6. doi:10.1006/geno.1995.1003. PMID 7665171.

[entrez-2] "Entrez Gene: GATA4 GATA binding protein 4". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2626.

[pmid17694559-3] Köhler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schröder V, Biebermann H, Schnabel D, Grüters A, Achermann JC (January 2008). "Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency". Hum. Mutat. 29 (1): 59–64. doi:10.1002/humu.20588. PMC 2359628. PMID 17694559.

[pmid12845333-4] Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D (July 2003). "GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5". Nature 424 (6947): 443–7. doi:10.1038/nature01827. PMID 12845333.

[pmid9312027-5] Durocher D, Charron F, Warren R, Schwartz RJ, Nemer M (September 1997). "The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors". EMBO J. 16 (18): 5687–96. doi:10.1093/emboj/16.18.5687. PMC 1170200. PMID 9312027.

[pmid10948187-6] Zhu W, Shiojima I, Hiroi Y, Zou Y, Akazawa H, Mizukami M, Toko H, Yazaki Y, Nagai R, Komuro I (November 2000). "Functional analyses of three Csx/Nkx-2.5 mutations that cause human congenital heart disease". J. Biol. Chem. 275 (45): 35291–6. doi:10.1074/jbc.M000525200. PMID 10948187.

[pmid9927675-7] Svensson EC, Tufts RL, Polk CE, Leiden JM (February 1999). "Molecular cloning of FOG-2: a modulator of transcription factor GATA-4 in cardiomyocytes". Proc. Natl. Acad. Sci. U.S.A. 96 (3): 956–61. doi:10.1073/pnas.96.3.956. PMC 15332. PMID 9927675.

[pmid11003651-8] Belaguli NS, Sepulveda JL, Nigam V, Charron F, Nemer M, Schwartz RJ (October 2000). "Cardiac tissue enriched factors serum response factor and GATA-4 are mutual coregulators". Mol. Cell. Biol. 20 (20): 7550–8. doi:10.1128/MCB.20.20.7550-7558.2000. PMC 86307. PMID 11003651.

[pmid11158291-9] Morin S, Paradis P, Aries A, Nemer M (February 2001). "Serum response factor-GATA ternary complex required for nuclear signaling by a G-protein-coupled receptor". Mol. Cell. Biol. 21 (4): 1036–44. doi:10.1128/MCB.21.4.1036-1044.2001. PMC 99558. PMID 11158291.

[pmid11994297-10] Dai YS, Cserjesi P, Markham BE, Molkentin JD (July 2002). "The transcription factors GATA4 and dHAND physically interact to synergistically activate cardiac gene expression through a p300-dependent mechanism". J. Biol. Chem. 277 (27): 24390–8. doi:10.1074/jbc.M202490200. PMID 11994297.

[pmid20833366-11] Trivedi CM, Zhu W, Wang Q, Jia C, Kee HJ, Li L, Hannenhalli S, Epstein JA (September 2010). "Hopx and Hdac2 interact to modulate Gata4 acetylation and embryonic cardiac myocyte proliferation". Dev. Cell 19 (3): 450–9. doi:10.1016/j.devcel.2010.08.012. PMC 2947937. PMID 20833366. Lay summary – Phys.Org.

[pmid23138528-12] Yu L, Wynn J, Cheung YH, Shen Y, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, Stolar C, Aspelund G, Arkovitz MS, Chung WK (November 2012). "Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia". Hum. Genet. doi:10.1007/s00439-012-1249-0. PMID 23138528.

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GATA4

Contents

[edit] Function

[edit] Interactions

[edit] Clinical relevance

[edit] See also

[edit] References

[edit] Further reading

[edit] External links

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