Primary Identifier | MGI:98494 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 21385 |
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 cis-regulatory region sequence-specific DNA binding activity; and histone deacetylase binding activity. Involved in several processes, including circulatory system development; embryonic morphogenesis; and regulation of transcription by RNA polymerase II. Acts upstream of with a negative effect on pigment metabolic process involved in pigmentation. Acts upstream of or within several processes, including heart development; mammary placode formation; and ureteric peristalsis. Located in cytoplasm and nucleus. Part of transcription regulator complex. Is expressed in several structures, including central nervous system; embryo mesenchyme; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in atrial heart septal defect; heart septal defect; and vertebral anomalies and variable endocrine and T-cell dysfunction. Orthologous to human TBX2 (T-box transcription factor 2). PHENOTYPE: Homozygous null mice display embryonic lethality with abnormal cardiac and vascular development, edema, and polydactyly. [provided by MGI curators] |