Full name: SRY (sex determining region Y)-box 9

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: 2010306G03Rik; mKIAA4243; mSox9

Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; beta-catenin binding activity; and nucleic acid binding activity. Involved in several processes, including intracellular signal transduction; positive regulation of morphogenesis of an epithelium; and regulation of signal transduction. Acts upstream of or within several processes, including animal organ development; negative regulation of cell differentiation; and regulation of epithelial cell proliferation. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and sensory organ. Used to study campomelic dysplasia. Human ortholog(s) of this gene implicated in 46,XX sex reversal 2; 46,XY sex reversal 10; and campomelic dysplasia. Orthologous to human SOX9 (SRY-box transcription factor 9). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Broad expression in limb E14.5 (RPKM 30.6), colon adult (RPKM 27.7) and 16 other tissues

Gene size: 5548bp

Exon count: 3