Protein Name SRY-box transcription factor 2
Organism Homo sapiens
Gene ID 6657
Gene Symbol

SOX2

UniProt P48431 (SOX2_HUMAN), A0A0U3FYV6 (A0A0U3FYV6_HUMAN)
Relationships Total Number of functionally related compound(s) : 422
Total Number of Articles : 594
Description

SRY-box transcription factor 2

Gene Summary

This intronless gene encodes 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 this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]

synonyms
  • transcription factor SOX-2
  • SRY (sex determining region Y)-box 2
  • SRY-box 2
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Properties