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P48431

- SOX2_HUMAN

UniProt

P48431 - SOX2_HUMAN

Protein

Transcription factor SOX-2

Gene

SOX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 1 (01 Feb 1996)
      Previous versions | rss
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    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 similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi41 – 10969HMG boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: Ensembl
    2. DNA binding Source: UniProtKB
    3. miRNA binding Source: UniProtKB
    4. protein binding Source: UniProtKB
    5. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
    6. sequence-specific DNA binding Source: MGI
    7. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    8. transcription regulatory region DNA binding Source: UniProtKB
    9. transcription regulatory region sequence-specific DNA binding Source: Ensembl

    GO - Biological processi

    1. adenohypophysis development Source: Ensembl
    2. cell cycle arrest Source: UniProtKB
    3. cerebral cortex development Source: Ensembl
    4. chromatin organization Source: UniProtKB
    5. detection of mechanical stimulus involved in equilibrioception Source: Ensembl
    6. detection of mechanical stimulus involved in sensory perception of sound Source: Ensembl
    7. diencephalon morphogenesis Source: Ensembl
    8. endodermal cell fate specification Source: MGI
    9. epithelial tube branching involved in lung morphogenesis Source: Ensembl
    10. eye development Source: UniProtKB
    11. forebrain development Source: UniProtKB
    12. forebrain neuron differentiation Source: Ensembl
    13. glial cell fate commitment Source: UniProtKB
    14. inner ear development Source: UniProtKB
    15. inner ear morphogenesis Source: Ensembl
    16. lens induction in camera-type eye Source: Ensembl
    17. lung alveolus development Source: Ensembl
    18. male genitalia development Source: Ensembl
    19. negative regulation of canonical Wnt signaling pathway Source: UniProtKB
    20. negative regulation of epithelial cell proliferation Source: UniProtKB
    21. negative regulation of neuron differentiation Source: UniProtKB
    22. negative regulation of osteoblast differentiation Source: Ensembl
    23. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    24. neuronal stem cell maintenance Source: UniProtKB
    25. neuron fate commitment Source: Ensembl
    26. olfactory placode formation Source: Ensembl
    27. osteoblast differentiation Source: UniProtKB
    28. pigment biosynthetic process Source: Ensembl
    29. pituitary gland development Source: UniProtKB
    30. positive regulation of epithelial cell differentiation Source: Ensembl
    31. positive regulation of MAPK cascade Source: UniProtKB
    32. positive regulation of neuroblast proliferation Source: Ensembl
    33. positive regulation of neuron differentiation Source: Ensembl
    34. positive regulation of Notch signaling pathway Source: Ensembl
    35. positive regulation of transcription, DNA-templated Source: UniProtKB
    36. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    37. regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
    38. regulation of gene expression Source: UniProtKB
    39. regulation of transcription, DNA-templated Source: UniProtKB
    40. response to growth factor Source: UniProtKB
    41. response to retinoic acid Source: Ensembl
    42. response to wounding Source: UniProtKB
    43. retina morphogenesis in camera-type eye Source: Ensembl
    44. somatic stem cell maintenance Source: UniProtKB
    45. tongue development Source: Ensembl

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_200670. POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation.
    REACT_200759. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation.
    REACT_200812. Transcriptional regulation of pluripotent stem cells.
    SignaLinkiP48431.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transcription factor SOX-2
    Gene namesi
    Name:SOX2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:11195. SOX2.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytosol Source: UniProtKB
    3. nucleus Source: UniProtKB
    4. transcription factor complex Source: BHF-UCL

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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

    Microphthalmia

    Organism-specific databases

    MIMi206900. phenotype.
    Orphaneti77298. Anophthalmia/microphthalmia - esophageal atresia.
    98938. Colobomatous microphthalmia.
    2542. Isolated anophthalmia - microphthalmia.
    3157. Septo-optic dysplasia.
    PharmGKBiPA36032.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 317317Transcription factor SOX-2PRO_0000048715Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki245 – 245Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
    Modified residuei251 – 2511Phosphoserine1 Publication

    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

    MaxQBiP48431.
    PaxDbiP48431.
    PRIDEiP48431.

    PTM databases

    PhosphoSiteiP48431.

    Expressioni

    Gene expression databases

    BgeeiP48431.
    CleanExiHS_SOX2.
    GenevestigatoriP48431.

    Organism-specific databases

    HPAiCAB010648.
    HPA045725.

    Interactioni

    Subunit structurei

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

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PRKCIP417432EBI-6124081,EBI-286199

    Protein-protein interaction databases

    BioGridi112540. 327 interactions.
    DIPiDIP-59913N.
    IntActiP48431. 3 interactions.
    STRINGi9606.ENSP00000323588.

    Structurei

    Secondary structure

    1
    317
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi47 – 6216
    Helixi68 – 7912
    Helixi84 – 10421

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1O4XNMR-B39-121[»]
    2LE4NMR-A39-118[»]
    ProteinModelPortaliP48431.
    SMRiP48431. Positions 39-117.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP48431.

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi19 – 235Poly-Gly
    Compositional biasi27 – 304Poly-Ala

    Sequence similaritiesi

    Contains 1 HMG box DNA-binding domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG321816.
    HOGENOMiHOG000231647.
    HOVERGENiHBG105663.
    InParanoidiP48431.
    KOiK16796.
    OMAiMSALQYN.
    OrthoDBiEOG7TMZVP.
    PhylomeDBiP48431.
    TreeFamiTF351735.

    Family and domain databases

    Gene3Di1.10.30.10. 1 hit.
    InterProiIPR009071. HMG_box_dom.
    IPR022097. TF_SOX.
    [Graphical view]
    PfamiPF00505. HMG_box. 1 hit.
    PF12336. SOXp. 1 hit.
    [Graphical view]
    SMARTiSM00398. HMG. 1 hit.
    [Graphical view]
    SUPFAMiSSF47095. SSF47095. 1 hit.
    PROSITEiPS50118. HMG_BOX_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P48431-1 [UniParc]FASTAAdd to Basket

    « Hide

    MYNMMETELK PPGPQQTSGG GGGNSTAAAA GGNQKNSPDR VKRPMNAFMV    50
    WSRGQRRKMA QENPKMHNSE ISKRLGAEWK LLSETEKRPF IDEAKRLRAL 100
    HMKEHPDYKY RPRRKTKTLM KKDKYTLPGG LLAPGGNSMA SGVGVGAGLG 150
    AGVNQRMDSY AHMNGWSNGS YSMMQDQLGY PQHPGLNAHG AAQMQPMHRY 200
    DVSALQYNSM TSSQTYMNGS PTYSMSYSQQ GTPGMALGSM GSVVKSEASS 250
    SPPVVTSSSH SRAPCQAGDL RDMISMYLPG AEVPEPAAPS RLHMSQHYQS 300
    GPVPGTAING TLPLSHM 317
    Length:317
    Mass (Da):34,310
    Last modified:February 1, 1996 - v1
    Checksum:iEFCCAFE3E3A2B67B
    GO

    Sequence cautioni

    The sequence AAA35997.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAA83435.1 differs from that shown. Reason: Erroneous initiation.

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.3. human.

    Polymorphism databases

    DMDMi1351091.

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Sox2 entry

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    UniGenei Hs.518438.
    Hs.732963.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1O4X NMR - B 39-121 [» ]
    2LE4 NMR - A 39-118 [» ]
    ProteinModelPortali P48431.
    SMRi P48431. Positions 39-117.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112540. 327 interactions.
    DIPi DIP-59913N.
    IntActi P48431. 3 interactions.
    STRINGi 9606.ENSP00000323588.

    PTM databases

    PhosphoSitei P48431.

    Polymorphism databases

    DMDMi 1351091.

    Proteomic databases

    MaxQBi P48431.
    PaxDbi P48431.
    PRIDEi P48431.

    Protocols and materials databases

    DNASUi 6657.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000325404 ; ENSP00000323588 ; ENSG00000181449 .
    GeneIDi 6657.
    KEGGi hsa:6657.
    UCSCi uc003fkx.3. human.

    Organism-specific databases

    CTDi 6657.
    GeneCardsi GC03P181429.
    GeneReviewsi SOX2.
    HGNCi HGNC:11195. SOX2.
    HPAi CAB010648.
    HPA045725.
    MIMi 184429. gene.
    206900. phenotype.
    neXtProti NX_P48431.
    Orphaneti 77298. Anophthalmia/microphthalmia - esophageal atresia.
    98938. Colobomatous microphthalmia.
    2542. Isolated anophthalmia - microphthalmia.
    3157. Septo-optic dysplasia.
    PharmGKBi PA36032.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG321816.
    HOGENOMi HOG000231647.
    HOVERGENi HBG105663.
    InParanoidi P48431.
    KOi K16796.
    OMAi MSALQYN.
    OrthoDBi EOG7TMZVP.
    PhylomeDBi P48431.
    TreeFami TF351735.

    Enzyme and pathway databases

    Reactomei REACT_200670. POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation.
    REACT_200759. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation.
    REACT_200812. Transcriptional regulation of pluripotent stem cells.
    SignaLinki P48431.

    Miscellaneous databases

    EvolutionaryTracei P48431.
    GeneWikii SOX2.
    GenomeRNAii 6657.
    NextBioi 25951.
    PROi P48431.
    SOURCEi Search...

    Gene expression databases

    Bgeei P48431.
    CleanExi HS_SOX2.
    Genevestigatori P48431.

    Family and domain databases

    Gene3Di 1.10.30.10. 1 hit.
    InterProi IPR009071. HMG_box_dom.
    IPR022097. TF_SOX.
    [Graphical view ]
    Pfami PF00505. HMG_box. 1 hit.
    PF12336. SOXp. 1 hit.
    [Graphical view ]
    SMARTi SM00398. HMG. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47095. SSF47095. 1 hit.
    PROSITEi PS50118. HMG_BOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The cDNA sequence and chromosomal location of the human SOX2 gene."
      Stevanovic M., Zuffardi O., Collignon J., Lovell-Badge R., Goodfellow P.
      Mamm. Genome 5:640-642(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Fetal brain.
    2. Sadler L.A., Badzioch M.D., Wagner M., Graves K.A., Swaroop A., Yang-Feng T.L., Zheng K., Daiger S.P.
      Submitted (DEC-1992) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Retina.
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Lung.
    4. Cited for: INVOLVEMENT IN MCOPS3.
    5. "Induction of pluripotent stem cells from adult human fibroblasts by defined factors."
      Takahashi K., Tanabe K., Ohnuki M., Narita M., Ichisaka T., Tomoda K., Yamanaka S.
      Cell 131:861-872(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: BIOTECHNOLOGY, FUNCTION.
    6. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-251, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiSOX2_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 139 of the entry and version 1 of the sequence. [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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3