SOX2

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]

SRY-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).
Binds to the proximal enhancer region of NANOG (By similarity).
Critical for early embryogenesis and for embryonic stem cell pluripotency (PubMed:18035408).
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).
May function as a switch in neuronal development (By similarity).

Adenohypophysis developmentIEA:Ensembl
Anatomical structure morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Cell fate commitmentManual Assertion Based On ExperimentIBA:GO_Central
Chromatin organization1 PublicationNAS:UniProtKB
Endodermal cell fate specificationManual Assertion Based On ExperimentIDA:MGI
Eye developmentManual Assertion Based On ExperimentIEP:UniProtKB
Forebrain developmentManual Assertion Based On ExperimentIEP:UniProtKB
Glial cell fate commitment1 PublicationNAS:UniProtKB
Inner ear developmentManual Assertion Based On ExperimentIEP:UniProtKB
Negative regulation of canonical Wnt signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of cell cycle G1/S phase transitionManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of epithelial cell proliferationManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of neuron differentiationISS:UniProtKB
Negative regulation of transcription by RNA polymerase IIISS:UniProtKB
Neuronal stem cell population maintenanceISS:UniProtKB
Osteoblast differentiationManual Assertion Based On ExperimentIDA:UniProtKB
Pituitary gland developmentManual Assertion Based On ExperimentIEP:UniProtKB
Positive regulation of cell differentiationIEA:Ensembl
Positive regulation of cell-cell adhesionIEA:Ensembl
Positive regulation of MAPK cascadeManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of cysteine-type endopeptidase activity involved in apoptotic processManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of gene expressionManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:HGNC-UCL
Response to growth factorManual Assertion Based On ExperimentIDA:UniProtKB
Response to woundingManual Assertion Based On ExperimentIEP:UniProtKB
Somatic stem cell population maintenanceManual Assertion Based On ExperimentIDA:UniProtKB
Tissue regenerationIEA:Ensembl

Nucleus speckle
Cytoplasm
Nucleus
Acetylation contributes to its nuclear localization and deacetylation by HDAC3 induces a cytoplasmic delocalization (By similarity).
Colocalizes in the nucleus with ZNF208 isoform KRAB-O and tyrosine hydroxylase (TH) (By similarity).
Colocalizes with SOX6 in speckles. Colocalizes with CAML in the nucleus (By similarity).
Nuclear import is facilitated by XPO4, a protein that usually acts as a nuclear export signal receptor (By similarity).

Microphthalmia, syndromic, 3 (MCOPS3):
A disease characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.

Sumoylation inhibits binding on DNA and negatively regulates the FGF4 transactivation.