Primary Identifier | MGI:98366 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 20677 |
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 miRNA binding activity. Involved in several processes, including circulatory system development; hemopoiesis; and nervous system development. Acts upstream of or within endocrine pancreas development; hematopoietic stem cell homeostasis; and somatic stem cell population maintenance. Located in nucleus. Part of transcription regulator complex. Is active in cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 10 and urinary bladder cancer. Orthologous to human SOX4 (SRY-box transcription factor 4). PHENOTYPE: Homozygous targeted null mutants die at embryonic day 14 due to circulatory failure and showing impaired development of the semilunar valves and the muscular ventricular septum. Null fetal liver cells are unable to develop into B-cells in chimeric mice. [provided by MGI curators] |