SOX2
entrez
6657
canonical
uniprot
P48431
canonical
ensembl
ENSG00000181449
resolver
ensp
ENSP00000323588
resolver
enst
ENST00000325404
resolver
genesymbol
SOX2
resolver
hgnc
HGNC:11195
resolver
uniprot
Q14537
resolver
uniprot_entry
SOX2_HUMAN
resolver
uniprot_sec
Q14537
resolver
amino_acid_sequence
MYNMMETELKPPGPQQTSGGGGGNSTAAAAGGNQKNSPDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEISKRLGAEWKLLSETEKRPFIDEAKRLRALHMKEHPDYKYRPRRKTKTLMKKDKYTLPGGLLAPGGNSMASGVGVGAGLGAGVNQRMDSYAHMNGWSNGSYSMMQDQLGYPQHPGLNAHGAAQMQPMHRYDVSALQYNSMTSSQTYMNGSPTYSMSYSQQGTPGMALGSMGSVVKSEASSSPPVVTSSSHSRAPCQAGDLRDMISMYLPGAEVPEPAAPSRLHMSQHYQSGPVPGTAINGTLPLSHM
uniprot
proteins
disease_involvement
DISEASE: Microphthalmia, syndromic, 3 (MCOPS3) [MIM:206900]: 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. {ECO:0000269|PubMed:12612584, ECO:0000269|PubMed:24033328}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:P48430, ECO:0000250|UniProtKB:P48432, ECO:0000269|PubMed:18035408}.
uniprot
proteins
mass_dalton
34310
uniprot
proteins
mutagenesis
MUTAGEN 42..43; /note="KR->AA: In mt1; reduced nuclear import; when associated with 56-A--A-58. In mt1.2; reduced nuclear import; when associated with 56-A--A-58 and 113-A--A-115."; /evidence="ECO:0000269|PubMed:19349578"; MUTAGEN 42; /note="K->R: Loss of interaction with L3MBTL3. Loss of ubiquitination by the CRL4-DCAF5 E3 ubiquitin ligase complex. Loss of interaction with PHF20L1; when associated with R-117."; /evidence="ECO:0000269|PubMed:29358331, ECO:0000269|PubMed:30442713"; MUTAGEN 56..58; /note="RRK->AAA: In mt1; reduced nuclear import; when associated with 56-A--A-58. In mt1.2; reduced nuclear import; when associated with 42-A-A-43 and 113-A--A-115."; /evidence="ECO:0000269|PubMed:19349578"; MUTAGEN 113..115; /note="RRK->AAA: In mt2; reduced nuclear import. In mt1.2; reduced nuclear import; when associated with 42-A-A-43 and 56-A--A-58."; /evidence="ECO:0000269|PubMed:19349578"; MUTAGEN 117; /note="K->R: Loss of interaction with PHF20L1; when associated with R-42."; /evidence="ECO:0000269|PubMed:29358331
uniprot
proteins
post_translational_modification
PTM: Sumoylation inhibits binding on DNA and negatively regulates the FGF4 transactivation. {ECO:0000250}.; PTM: Methylation at Lys-42 and Lys-117 is necessary for the regulation of SOX2 proteasomal degradation. {ECO:0000269|PubMed:29358331, ECO:0000269|PubMed:30442713}.; PTM: Ubiquitinated by WWP2, leading to proteasomal degradation. {ECO:0000269|PubMed:34732716}.
uniprot
proteins
pubmed
12612584
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18035408
uniprot
proteins
pubmed
19349578
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21654807
uniprot
proteins
pubmed
24033328
uniprot
proteins
pubmed
29358331
uniprot
proteins
pubmed
30442713
uniprot
proteins
pubmed
34732716
uniprot
proteins
pubmed
7849401
uniprot
proteins
sequence_length
317
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000250|UniProtKB:Q05066}. Cytoplasm {ECO:0000250|UniProtKB:Q05738}. Nucleus {ECO:0000250|UniProtKB:Q05738}. Note=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). {ECO:0000250|UniProtKB:Q05066, ECO:0000250|UniProtKB:Q05738}.
uniprot
proteins