Primary Identifier | MGI:107516 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 14465 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and transcription coactivator binding activity. Involved in gene expression; heart contraction; and sinoatrial node development. Acts upstream of or within several processes, including cardiac muscle hypertrophy in response to stress; endodermal cell fate determination; and epithelial cell differentiation. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including central nervous system; early conceptus; embryo mesenchyme; gut; and heart. Human ortholog(s) of this gene implicated in adenocarcinoma (multiple); congenital heart disease (multiple); and pancreatic hypoplasia-diabetes-congenital heart disease syndrome. Orthologous to human GATA6 (GATA binding protein 6). PHENOTYPE: Homozygous null mutant E5.5 embryos lack parts of the visceral endoderm, show impaired embryonic ectoderm development, and die soon post-implantation, apparently of extraembryonic tissue defects. [provided by MGI curators] |