Primary Identifier | MGI:1277166 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 20687 |
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 repressor 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 negative regulation of DNA-templated transcription. Acts upstream of or within several processes, including embryo development; embryonic camera-type eye morphogenesis; and hemopoiesis. Located in nucleus. Part of transcription repressor complex. Is expressed in several structures, including 1st branchial arch; central nervous system; genitourinary system; jaw; and lung. Orthologous to human SP3 (Sp3 transcription factor). PHENOTYPE: Homozygous null mice exhibit a reduced birth body size, skeletal, tooth and hematopoietic defects, and die shortly after birth due to respiratory failure. Homozygous mutant mice bearing a subtle point mutation in the SUMO attachment site show loss of DNAmethylation in sumoylation-deficient MEFs. [provided by MGI curators] |