Primary Identifier | MGI:1888496 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 57246 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including heart development; mesenchymal cell development; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including circulatory system development; negative regulation of SMAD protein signal transduction; and regulation of DNA-templated transcription. Located in cytoplasm and nucleus. Is expressed in several structures, including early conceptus; genitourinary system; heart; hindbrain; and sensory organ. Used to study dilated cardiomyopathy. Human ortholog(s) of this gene implicated in atrial heart septal defect; atrial heart septal defect 4; congenital heart disease; tetralogy of Fallot; and ventricular septal defect. Orthologous to human TBX20 (T-box transcription factor 20). PHENOTYPE: Homozygous null mice display embryonic lethality, impaired cardiac looping, a small hourglass shaped heart, and decreased cardiomyocyte proliferation. [provided by MGI curators] |