Primary Identifier | MGI:109497 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 14464 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including heart development; positive regulation of Notch signaling pathway; and regulation of gene expression. Acts upstream of or within cellular response to BMP stimulus and positive regulation of DNA-templated transcription. Located in chromatin. Is expressed in several structures, including branchial arch; genitourinary system; gut; heart; and respiratory system. Used to study essential hypertension. Human ortholog(s) of this gene implicated in artery disease (multiple); atrial fibrillation (multiple); congenital heart disease (multiple); and dilated cardiomyopathy. Orthologous to human GATA5 (GATA binding protein 5). PHENOTYPE: Male mice homozygous for disruptions in this gene are viable and fertile and appear to be normal. Females, on the other hand, have abnormalities of the external genitalia, most apparently reduced distance between anus and vagina, and experience reduced fertility due to vaginal tract obstructions. [provided by MGI curators] |