Primary Identifier | MGI:98364 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 20674 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA binding activity; DNA-binding transcription factor activity, RNA polymerase II-specific; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including negative regulation of canonical Wnt signaling pathway; neuronal stem cell population maintenance; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including forebrain development; respiratory system development; and sensory organ morphogenesis. Located in cytoplasm and nucleus. Part of transcription regulator complex. Is active in chromatin. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in breast cancer; nasal cavity cancer; and syndromic microphthalmia 3. Orthologous to human SOX2 (SRY-box transcription factor 2). PHENOTYPE: Homozygotes for targeted null mutations implant but fail to develop an egg cylinder or epiblast, and die shortly thereafter. Other mutations that affect only regulatory elements show circling behavior and deafness, inner ear defects, and a yellow coat color. [provided by MGI curators] |