Search
sry-box-2 protein; transcription factor SOX-2 (sox2)
Function:
- transcription factor that forms a trimeric complex with OCT4 on DNA & controls the expression of a number of genes involved in embryonic development including as YES1, FGF4, UTF1 & ZFP206
- critical for early embryogenesis & for embryonic stem cell pluripotency (putative)
- sumoylation inhibits binding on DNA & negatively regulates the FGF4 transactivation (putative)
Structure: contains 1 HMG box DNA-binding domain
Compartment: nucleus
Pathology:
- defects in SOX2 are the cause of syndromic microphthalmia 3
Laboratory:
- SOX-2 Ab in serum/plasma
General
sex-determining region Y box protein; sry-box protein; sox protein (SOX)
Properties
SIZE: MW = 34 kD
entity length = 317 aa
COMPARTMENT: cell nucleus
MOTIF: glycine residue {19-23} (5)
alanine residue {27-30} (4)
HMG box
SITE: 41-109
Database Correlations
OMIM 184429
MORBIDMAP 184429
UniProt P48431
Pfam PF00505
Entrez Gene 6657
Kegg hsa:6657
References
- UniProt :accession P48431
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SOX2
- Wikipedia; Note: Sox2 entry
http://en.wikipedia.org/wiki/Sox2