GATA6

Description

The GATA6 (GATA binding protein 6) is a protein-coding gene located on chromosome 18.

GATA6, also known as GATA-binding factor 6, is a protein encoded by the GATA6 gene in humans. The gene product preferentially binds to the (A/T/C)GAT(A/T)(A) consensus binding sequence. Mutations in the GATA6 gene have been linked to pancreatic agenesis and congenital heart defects. GATA6 is important in the endodermal differentiation of organ tissues, particularly in lung development. It controls the late differentiation stages of alveolar epithelium and aquaporin-5 promoter activation. GATA6 is also linked to the production of LIF, a cytokine that encourages proliferation of endodermal embryonic stem cells and blocks early epiblast differentiation. Disruption of GATA6 in embryos results in stunted distal lung epithelial development in transgenic mice models. Progenitor cells for alveolar epithelial tissues develop and are specified appropriately, but further differentiation does not occur. Distal-proximal bronchiole development is also affected, leading to a reduced quantity of airway exchange sites. This branching deficit, causing bilateral pulmonary hypoplasia after birth, is associated with areas lacking differentiated alveolar epithelium, suggesting a link to endodermal function and potentially improper GATA-6 expression.

GATA6 is a transcriptional activator that regulates the expression of SEMA3C and PLXNA2. It is involved in gene regulation specifically in the gastric epithelium and may regulate genes that protect epithelial cells from bacterial infection. GATA6 is also involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. It binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions. In human skin, GATA6 controls several physiological processes contributing to homeostasis of the upper pilosebaceous unit. It triggers ductal and sebaceous differentiation as well as limits cell proliferation and lipid production to prevent hyperseborrhoea. GATA6 mediates the effects of retinoic acid on sebocyte proliferation, differentiation and lipid production. It also contributes to immune regulation of sebocytes and antimicrobial responses by modulating the expression of anti-inflammatory genes such as IL10 and pro-inflammatory genes such as IL6, TLR2, TLR4, and IFNG. GATA6 activates TGFB1 signaling which controls the interfollicular epidermis fate. It interacts with LMCD1.

GATA6 is also known as -.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing