DISEASES

Disease-gene associations mined from literature

Literature associating POU3F2 and Rett syndrome

POU3F2 [ENSP00000329170]

Nervous system-specific octamer-binding transcription factor N-Oct-3; Transcription factor that plays a key role in neuronal differentiation (By similarity). Binds preferentially to the recognition sequence which consists of two distinct half-sites, ('GCAT') and ('TAAT'), separated by a non-conserved spacer region of 0, 2, or 3 nucleotides (By similarity). The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Acts downstream of ASCL1, accessing chromatin that has been opened by ASCL1, and promotes transcription of neuronal genes (By similarity).

Synonyms:  POU3F2,  POU3F2p,  hPOU3F2,  P20265,  BRN2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM