UniProtKB - P48431 (SOX2_HUMAN)
Protein
Transcription factor SOX-2
Gene
SOX2
Organism
Homo sapiens (Human)
Status
Functioni
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).By similarity1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 41 – 109 | HMG boxPROSITE-ProRule annotationAdd BLAST | 69 |
GO - Molecular functioni
- DNA binding Source: UniProtKB
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- miRNA binding Source: UniProtKB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific DNA binding Source: MGI
- transcription regulatory region sequence-specific DNA binding Source: UniProtKB
GO - Biological processi
- adenohypophysis development Source: Ensembl
- anatomical structure morphogenesis Source: GO_Central
- cell cycle arrest Source: UniProtKB
- cell differentiation Source: GO_Central
- cell fate commitment Source: GO_Central
- chromatin organization Source: UniProtKB
- cytokine-mediated signaling pathway Source: Reactome
- endodermal cell fate specification Source: MGI
- eye development Source: UniProtKB
- forebrain development Source: UniProtKB
- glial cell fate commitment Source: UniProtKB
- inner ear development Source: UniProtKB
- negative regulation of canonical Wnt signaling pathway Source: UniProtKB
- negative regulation of epithelial cell proliferation Source: UniProtKB
- negative regulation of neuron differentiation Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- neuronal stem cell population maintenance Source: UniProtKB
- osteoblast differentiation Source: UniProtKB
- pituitary gland development Source: UniProtKB
- positive regulation of cell-cell adhesion Source: Ensembl
- positive regulation of cell differentiation Source: Ensembl
- positive regulation of MAPK cascade Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
- regulation of gene expression Source: UniProtKB
- regulation of transcription, DNA-templated Source: HGNC-UCL
- response to growth factor Source: UniProtKB
- response to wounding Source: UniProtKB
- somatic stem cell population maintenance Source: UniProtKB
- tissue regeneration Source: Ensembl
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P48431 |
Reactomei | R-HSA-2892245, POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation R-HSA-2892247, POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation R-HSA-3769402, Deactivation of the beta-catenin transactivating complex R-HSA-452723, Transcriptional regulation of pluripotent stem cells R-HSA-6785807, Interleukin-4 and Interleukin-13 signaling R-HSA-8986944, Transcriptional Regulation by MECP2 |
SignaLinki | P48431 |
SIGNORi | P48431 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor SOX-2 |
Gene namesi | Name:SOX2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000181449.3 |
HGNCi | HGNC:11195, SOX2 |
MIMi | 184429, gene |
neXtProti | NX_P48431 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Cytosol
- cytosol Source: UniProtKB
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- transcription regulator complex Source: BHF-UCL
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Microphthalmia, syndromic, 3 (MCOPS3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075627 | 51 | W → R in MCOPS3; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_075628 | 74 | R → P in MCOPS3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104893805EnsemblClinVar. | 1 | |
Natural variantiVAR_075629 | 79 | W → S in MCOPS3; unknown pathological significance. 1 Publication | 1 |
Biotechnological usei
POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 are the four Yamanaka factors. When combined, these factors are sufficient to reprogram differentiated cells to an embryonic-like state designated iPS (induced pluripotent stem) cells. iPS cells exhibit the morphology and growth properties of ES cells and express ES cell marker genes.1 Publication
Keywords - Diseasei
Disease mutation, MicrophthalmiaOrganism-specific databases
DisGeNETi | 6657 |
GeneReviewsi | SOX2 |
MalaCardsi | SOX2 |
MIMi | 206900, phenotype |
OpenTargetsi | ENSG00000181449 |
Orphaneti | 77298, Anophthalmia/microphthalmia-esophageal atresia syndrome 2542, Isolated microphthalmia-anophthalmia-coloboma 3157, Septo-optic dysplasia spectrum |
PharmGKBi | PA36032 |
Miscellaneous databases
Pharosi | P48431, Tbio |
Polymorphism and mutation databases
BioMutai | SOX2 |
DMDMi | 1351091 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048715 | 1 – 317 | Transcription factor SOX-2Add BLAST | 317 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 245 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity | ||
Modified residuei | 251 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Sumoylation inhibits binding on DNA and negatively regulates the FGF4 transactivation.By similarity
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P48431 |
jPOSTi | P48431 |
MassIVEi | P48431 |
MaxQBi | P48431 |
PaxDbi | P48431 |
PeptideAtlasi | P48431 |
PRIDEi | P48431 |
ProteomicsDBi | 55888 |
PTM databases
iPTMneti | P48431 |
PhosphoSitePlusi | P48431 |
Expressioni
Gene expression databases
Bgeei | ENSG00000181449, Expressed in cerebral cortex and 173 other tissues |
ExpressionAtlasi | P48431, baseline and differential |
Genevisiblei | P48431, HS |
Organism-specific databases
HPAi | ENSG00000181449, Tissue enriched (brain) |
Interactioni
Subunit structurei
Interacts with ZSCAN10 (By similarity).
Interacts with SOX3 and FGFR1 (By similarity).
Interacts with GLIS1 (PubMed:21654807).
Interacts with POU5F1; binds synergistically with POU5F1 to DNA (By similarity).
By similarity1 PublicationBinary interactionsi
Hide detailsP48431
Protein-protein interaction databases
BioGRIDi | 112540, 570 interactors |
CORUMi | P48431 |
DIPi | DIP-59913N |
IntActi | P48431, 26 interactors |
MINTi | P48431 |
STRINGi | 9606.ENSP00000323588 |
Miscellaneous databases
RNActi | P48431, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | P48431 |
SMRi | P48431 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P48431 |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 19 – 23 | Poly-Gly | 5 | |
Compositional biasi | 27 – 30 | Poly-Ala | 4 |
Phylogenomic databases
eggNOGi | KOG0527, Eukaryota |
GeneTreei | ENSGT00940000160614 |
HOGENOMi | CLU_021123_0_0_1 |
InParanoidi | P48431 |
OMAi | QHYQGAP |
OrthoDBi | 1161594at2759 |
PhylomeDBi | P48431 |
TreeFami | TF351735 |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
IDEALi | IID00626 |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf IPR032643, SOX-2 IPR022097, SOX_fam |
PANTHERi | PTHR10270:SF231, PTHR10270:SF231, 1 hit |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit PF12336, SOXp, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 1 hit |
i Sequence
Sequence statusi: Complete.
P48431-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MYNMMETELK PPGPQQTSGG GGGNSTAAAA GGNQKNSPDR VKRPMNAFMV
60 70 80 90 100
WSRGQRRKMA QENPKMHNSE ISKRLGAEWK LLSETEKRPF IDEAKRLRAL
110 120 130 140 150
HMKEHPDYKY RPRRKTKTLM KKDKYTLPGG LLAPGGNSMA SGVGVGAGLG
160 170 180 190 200
AGVNQRMDSY AHMNGWSNGS YSMMQDQLGY PQHPGLNAHG AAQMQPMHRY
210 220 230 240 250
DVSALQYNSM TSSQTYMNGS PTYSMSYSQQ GTPGMALGSM GSVVKSEASS
260 270 280 290 300
SPPVVTSSSH SRAPCQAGDL RDMISMYLPG AEVPEPAAPS RLHMSQHYQS
310
GPVPGTAING TLPLSHM
Sequence cautioni
The sequence AAA35997 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence CAA83435 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075627 | 51 | W → R in MCOPS3; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_075628 | 74 | R → P in MCOPS3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104893805EnsemblClinVar. | 1 | |
Natural variantiVAR_075629 | 79 | W → S in MCOPS3; unknown pathological significance. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Z31560 mRNA Translation: CAA83435.1 Different initiation. L07335 mRNA Translation: AAA35997.1 Different initiation. BC013923 mRNA Translation: AAH13923.1 |
CCDSi | CCDS3239.1 |
RefSeqi | NP_003097.1, NM_003106.3 |
Genome annotation databases
Ensembli | ENST00000325404; ENSP00000323588; ENSG00000181449 |
GeneIDi | 6657 |
KEGGi | hsa:6657 |
UCSCi | uc003fkx.4, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Wikipedia Sox2 entry |
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Z31560 mRNA Translation: CAA83435.1 Different initiation. L07335 mRNA Translation: AAA35997.1 Different initiation. BC013923 mRNA Translation: AAH13923.1 |
CCDSi | CCDS3239.1 |
RefSeqi | NP_003097.1, NM_003106.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1O4X | NMR | - | B | 39-121 | [»] | |
2LE4 | NMR | - | A | 39-118 | [»] | |
6T7B | electron microscopy | 5.10 | K | 36-121 | [»] | |
6T90 | electron microscopy | 3.05 | L | 37-118 | [»] | |
6YOV | electron microscopy | 3.42 | L | 37-118 | [»] | |
BMRBi | P48431 | |||||
SMRi | P48431 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112540, 570 interactors |
CORUMi | P48431 |
DIPi | DIP-59913N |
IntActi | P48431, 26 interactors |
MINTi | P48431 |
STRINGi | 9606.ENSP00000323588 |
PTM databases
iPTMneti | P48431 |
PhosphoSitePlusi | P48431 |
Polymorphism and mutation databases
BioMutai | SOX2 |
DMDMi | 1351091 |
Proteomic databases
EPDi | P48431 |
jPOSTi | P48431 |
MassIVEi | P48431 |
MaxQBi | P48431 |
PaxDbi | P48431 |
PeptideAtlasi | P48431 |
PRIDEi | P48431 |
ProteomicsDBi | 55888 |
Protocols and materials databases
Antibodypediai | 3488, 1706 antibodies |
DNASUi | 6657 |
Genome annotation databases
Ensembli | ENST00000325404; ENSP00000323588; ENSG00000181449 |
GeneIDi | 6657 |
KEGGi | hsa:6657 |
UCSCi | uc003fkx.4, human |
Organism-specific databases
CTDi | 6657 |
DisGeNETi | 6657 |
EuPathDBi | HostDB:ENSG00000181449.3 |
GeneCardsi | SOX2 |
GeneReviewsi | SOX2 |
HGNCi | HGNC:11195, SOX2 |
HPAi | ENSG00000181449, Tissue enriched (brain) |
MalaCardsi | SOX2 |
MIMi | 184429, gene 206900, phenotype |
neXtProti | NX_P48431 |
OpenTargetsi | ENSG00000181449 |
Orphaneti | 77298, Anophthalmia/microphthalmia-esophageal atresia syndrome 2542, Isolated microphthalmia-anophthalmia-coloboma 3157, Septo-optic dysplasia spectrum |
PharmGKBi | PA36032 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0527, Eukaryota |
GeneTreei | ENSGT00940000160614 |
HOGENOMi | CLU_021123_0_0_1 |
InParanoidi | P48431 |
OMAi | QHYQGAP |
OrthoDBi | 1161594at2759 |
PhylomeDBi | P48431 |
TreeFami | TF351735 |
Enzyme and pathway databases
PathwayCommonsi | P48431 |
Reactomei | R-HSA-2892245, POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation R-HSA-2892247, POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation R-HSA-3769402, Deactivation of the beta-catenin transactivating complex R-HSA-452723, Transcriptional regulation of pluripotent stem cells R-HSA-6785807, Interleukin-4 and Interleukin-13 signaling R-HSA-8986944, Transcriptional Regulation by MECP2 |
SignaLinki | P48431 |
SIGNORi | P48431 |
Miscellaneous databases
BioGRID-ORCSi | 6657, 49 hits in 868 CRISPR screens |
EvolutionaryTracei | P48431 |
GeneWikii | SOX2 |
GenomeRNAii | 6657 |
Pharosi | P48431, Tbio |
PROi | PR:P48431 |
RNActi | P48431, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000181449, Expressed in cerebral cortex and 173 other tissues |
ExpressionAtlasi | P48431, baseline and differential |
Genevisiblei | P48431, HS |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
IDEALi | IID00626 |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf IPR032643, SOX-2 IPR022097, SOX_fam |
PANTHERi | PTHR10270:SF231, PTHR10270:SF231, 1 hit |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit PF12336, SOXp, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SOX2_HUMAN | |
Accessioni | P48431Primary (citable) accession number: P48431 Secondary accession number(s): Q14537 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1996 |
Last sequence update: | February 1, 1996 | |
Last modified: | December 2, 2020 | |
This is version 191 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations