Sequence of this protein is as follows: TCTKHTYRCL NGLCLSKGNP ECDGKEDCSD GSDEKDCDCG LRSFTRQARV VGGTDADEGE WPWQVSLHAL GQGHICGASL ISPNWLVSAA HCYIDDRGFR YSDPTQWTAF LGLHDQSQRS APGVQERRLK RIISHPFFND FTFDYDIALL ELEKPAEYSS MVRPICLPDA SHVFPAGKAI WVTGWGHTQY GGTGALILQK GEIRVINQTT CENLLPQQIT PRMMCVGFLS GGVDSCQGDS GGPLSSVEAD GRIFQAGVVS WGDGCAQRNK PGVYTRLPLF RDWIKENTGV
SOX2 is an intronless gene encoding a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of the SOX2 gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. The SOX2 gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). Further, SOX2 protein may act as a transcriptional activator after forming a protein complex with other proteins. Mutations in the SOX2 gene have been associated with bilateral anophthalmia, a severe form of structural eye malformation, optic nerve hypoplasia and syndromic microphthalmia.
Protein Aliases: Epithin; Matriptase; matriptase/MT-SP1; Membrane-type serine protease 1; MT-SP1; MTSP-1; Prostamin; protease, serine, 14 (epithin); Serine protease 14; Serine protease TADG-15; suppression of tumorigenicity 14 (colon carcinoma); suppression of tumorigenicity 14 (colon carcinoma, matriptase, epithin); Suppressor of tumorigenicity 14 protein; Suppressor of tumorigenicity 14 protein homolog; TADG-15; tumor associated differentially expressed gene 15 protein; Tumor-associated differentially-expressed gene 15 protein
Gene Aliases: ARCI11; Epithin; HAI; matriptase; mCAP3; MT-SP1; MTSP1; PRSS14; SNC19; ST14; TADG15; TMPRSS14
Molecular Function: annexin calcium-binding protein calmodulin enzyme modulator hydrolase intracellular calcium-sensing protein peptide hormone protease protease inhibitor receptor serine protease signaling molecule