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Protein

Transcription factor SOX-2

Gene

SOX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • DNA binding Source: UniProtKB
  • miRNA binding Source: UniProtKB
  • sequence-specific DNA binding Source: MGI
  • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding Source: Ensembl
  • transcription factor activity, sequence-specific DNA binding Source: UniProtKB
  • transcription regulatory region DNA binding Source: UniProtKB
  • transcription regulatory region sequence-specific DNA binding Source: Ensembl

GO - Biological processi

  • adenohypophysis development Source: Ensembl
  • cell cycle arrest Source: UniProtKB
  • chromatin organization Source: UniProtKB
  • 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 from RNA polymerase II promoter 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 from RNA polymerase II promoter 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
  • response to growth factor Source: UniProtKB
  • response to wounding Source: UniProtKB
  • somatic stem cell population maintenance Source: UniProtKB
  • tissue regeneration Source: Ensembl

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 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.

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:rs104893805Ensembl.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.

PTM databases

iPTMnetiP48431.
PhosphoSitePlusiP48431.

Expressioni

Gene expression databases

BgeeiENSG00000181449.
CleanExiHS_SOX2.
ExpressionAtlasiP48431. baseline and differential.
GenevisibleiP48431. HS.

Organism-specific databases

HPAiCAB010648.
HPA045725.

Interactioni

Subunit structurei

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

Binary interactionsi

Show more details

Protein-protein interaction databases

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

Structurei

Secondary structure

1317
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi47 – 62Combined sources16
Helixi68 – 79Combined sources12
Helixi84 – 104Combined sources21

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...

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

P48431: The sequence AAA35997 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
P48431: 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:rs104893805Ensembl.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

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: October 25, 2017
This is version 168 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

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references