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Protein

Transcription factor SOX-2

Gene

SOX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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). Critical for early embryogenesis and for embryonic stem cell pluripotency. May function as a switch in neuronal development. 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).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi41 – 109HMG boxPROSITE-ProRule annotationAdd BLAST69

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-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
SignaLinkiP48431
SIGNORiP48431

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-2
Gene namesi
Name:SOX2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000181449.3
HGNCiHGNC:11195 SOX2
MIMi184429 gene
neXtProtiNX_P48431

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & 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.
See also OMIM:206900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07562751W → R in MCOPS3; unknown pathological significance. 1 Publication1
Natural variantiVAR_07562874R → P in MCOPS3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104893805EnsemblClinVar.1
Natural variantiVAR_07562979W → S in MCOPS3; unknown pathological significance. 1 Publication1

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, Microphthalmia

Organism-specific databases

DisGeNETi6657
GeneReviewsiSOX2
MalaCardsiSOX2
MIMi206900 phenotype
OpenTargetsiENSG00000181449
Orphaneti77298 Anophthalmia/microphthalmia - esophageal atresia
98938 Colobomatous microphthalmia
2542 Isolated anophthalmia - microphthalmia
3157 Septo-optic dysplasia
PharmGKBiPA36032

Polymorphism and mutation databases

BioMutaiSOX2
DMDMi1351091

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000487151 – 317Transcription factor SOX-2Add BLAST317

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki245Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Modified residuei251PhosphoserineCombined sources1

Post-translational modificationi

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

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP48431
MaxQBiP48431
PaxDbiP48431
PeptideAtlasiP48431
PRIDEiP48431
ProteomicsDBi55888

PTM databases

iPTMnetiP48431
PhosphoSitePlusiP48431

Expressioni

Gene expression databases

BgeeiENSG00000181449 Expressed in 150 organ(s), highest expression level in cerebral cortex
CleanExiHS_SOX2
ExpressionAtlasiP48431 baseline and differential
GenevisibleiP48431 HS

Organism-specific databases

HPAiCAB010648
HPA045725
HPA071379

Interactioni

Subunit structurei

Interacts with ZSCAN10. Interacts with SOX3 and FGFR1.By similarity

Binary interactionsi

Protein-protein interaction databases

BioGridi112540, 352 interactors
CORUMiP48431
DIPiDIP-59913N
IntActiP48431, 9 interactors
MINTiP48431
STRINGi9606.ENSP00000323588

Structurei

Secondary structure

1317
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP48431
SMRiP48431
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP48431

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi19 – 23Poly-Gly5
Compositional biasi27 – 30Poly-Ala4

Phylogenomic databases

eggNOGiENOG410IPZI Eukaryota
ENOG411009V LUCA
GeneTreeiENSGT00760000118988
HOGENOMiHOG000231647
HOVERGENiHBG105663
InParanoidiP48431
KOiK16796
OMAiQSYMNGS
OrthoDBiEOG091G0F15
PhylomeDBiP48431
TreeFamiTF351735

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR032643 SOX-2
IPR022097 SOX_fam
PANTHERiPTHR10270:SF231 PTHR10270:SF231, 1 hit
PfamiView protein in Pfam
PF00505 HMG_box, 1 hit
PF12336 SOXp, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 1 hit

Sequencei

Sequence statusi: Complete.

P48431-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:317
Mass (Da):34,310
Last modified:February 1, 1996 - v1
Checksum:iEFCCAFE3E3A2B67B
GO

Sequence cautioni

The sequence AAA35997 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAA83435 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07562751W → R in MCOPS3; unknown pathological significance. 1 Publication1
Natural variantiVAR_07562874R → P in MCOPS3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104893805EnsemblClinVar.1
Natural variantiVAR_07562979W → S in MCOPS3; unknown pathological significance. 1 Publication1

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
CCDSiCCDS3239.1
RefSeqiNP_003097.1, NM_003106.3
UniGeneiHs.518438
Hs.732963

Genome annotation databases

EnsembliENST00000325404; ENSP00000323588; ENSG00000181449
GeneIDi6657
KEGGihsa:6657
UCSCiuc003fkx.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
CCDSiCCDS3239.1
RefSeqiNP_003097.1, NM_003106.3
UniGeneiHs.518438
Hs.732963

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1O4XNMR-B39-121[»]
2LE4NMR-A39-118[»]
ProteinModelPortaliP48431
SMRiP48431
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112540, 352 interactors
CORUMiP48431
DIPiDIP-59913N
IntActiP48431, 9 interactors
MINTiP48431
STRINGi9606.ENSP00000323588

PTM databases

iPTMnetiP48431
PhosphoSitePlusiP48431

Polymorphism and mutation databases

BioMutaiSOX2
DMDMi1351091

Proteomic databases

EPDiP48431
MaxQBiP48431
PaxDbiP48431
PeptideAtlasiP48431
PRIDEiP48431
ProteomicsDBi55888

Protocols and materials databases

DNASUi6657
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325404; ENSP00000323588; ENSG00000181449
GeneIDi6657
KEGGihsa:6657
UCSCiuc003fkx.4 human

Organism-specific databases

CTDi6657
DisGeNETi6657
EuPathDBiHostDB:ENSG00000181449.3
GeneCardsiSOX2
GeneReviewsiSOX2
HGNCiHGNC:11195 SOX2
HPAiCAB010648
HPA045725
HPA071379
MalaCardsiSOX2
MIMi184429 gene
206900 phenotype
neXtProtiNX_P48431
OpenTargetsiENSG00000181449
Orphaneti77298 Anophthalmia/microphthalmia - esophageal atresia
98938 Colobomatous microphthalmia
2542 Isolated anophthalmia - microphthalmia
3157 Septo-optic dysplasia
PharmGKBiPA36032
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IPZI Eukaryota
ENOG411009V LUCA
GeneTreeiENSGT00760000118988
HOGENOMiHOG000231647
HOVERGENiHBG105663
InParanoidiP48431
KOiK16796
OMAiQSYMNGS
OrthoDBiEOG091G0F15
PhylomeDBiP48431
TreeFamiTF351735

Enzyme and pathway databases

ReactomeiR-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
SignaLinkiP48431
SIGNORiP48431

Miscellaneous databases

EvolutionaryTraceiP48431
GeneWikiiSOX2
GenomeRNAii6657
PROiPR:P48431
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000181449 Expressed in 150 organ(s), highest expression level in cerebral cortex
CleanExiHS_SOX2
ExpressionAtlasiP48431 baseline and differential
GenevisibleiP48431 HS

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR032643 SOX-2
IPR022097 SOX_fam
PANTHERiPTHR10270:SF231 PTHR10270:SF231, 1 hit
PfamiView protein in Pfam
PF00505 HMG_box, 1 hit
PF12336 SOXp, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSOX2_HUMAN
AccessioniPrimary (citable) accession number: P48431
Secondary accession number(s): Q14537
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: September 12, 2018
This is version 174 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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