DISEASES

Disease-gene associations mined from literature

Literature associating SOX2 and hereditary spastic paraplegia 76

SOX2 [ENSP00000323588]

SRY (sex determining region Y)-box 2; Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency. May function as a switch in neuronal development. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity); SRY-boxes

Synonyms:  SOX2,  SOX2p,  hSOX2,  P48431,  P48431p ...

Linkouts:  STRING  Pharos  UniProt  OMIM