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

More general terms

• sox protein

Database

• OMIM: https://mirror.omim.org/entry/184429
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6657
• UniProt: http://www.uniprot.org/uniprot/P48431.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6657