GATA6
Identifiers
Aliases	GATA6, GATA binding protein 6
External IDs	OMIM: 601656 MGI: 107516 HomoloGene: 68449 GeneCards: GATA6
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18q11.2 Start 22,169,589 bp[1] End 22,202,528 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18 A1|18 5.63 cM Start 11,052,064 bp[2] End 11,085,635 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in germinal epithelium parietal pleura jejunal mucosa pylorus right ventricle lower lobe of lung left adrenal gland adrenal cortex right adrenal gland superficial temporal artery Top expressed in atrium atrioventricular valve epithelium of stomach endocardial cushion right ventricle pyloric antrum morula semi-lunar valve septum transversum left lung lobe 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 [3] [4]
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.^[5] The gene product preferentially binds (A/T/C)GAT(A/T)(A) of the consensus binding sequence.^[6]

Clinical significance

Mutations in the gene have been linked with pancreatic agenesis and congenital heart defects.^[7]

Lung Endodermal Epithelial Development

GATA-6, a zinc finger transcription factor, is important in the endodermal differentiation of organ tissues.^[8] 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.^[9]

Upon the disruption of GATA-6 in an embryo, the distal lung epithelial development is stunted in transgenic mice models^[8] 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.^[8]

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.^[10][11] 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.