ID   SOX2_HUMAN              Reviewed;         317 AA.
AC   P48431; Q14537;
DT   01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
DT   01-FEB-1996, sequence version 1.
DT   25-JAN-2012, entry version 111.
DE   RecName: Full=Transcription factor SOX-2;
GN   Name=SOX2;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Fetal brain;
RX   MEDLINE=95152171; PubMed=7849401; DOI=10.1007/BF00411460;
RA   Stevanovic M., Zuffardi O., Collignon J., Lovell-Badge R.,
RA   Goodfellow P.;
RT   "The cDNA sequence and chromosomal location of the human SOX2 gene.";
RL   Mamm. Genome 5:640-642(1994).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Retina;
RA   Sadler L.A., Badzioch M.D., Wagner M., Graves K.A., Swaroop A.,
RA   Yang-Feng T.L., Zheng K., Daiger S.P.;
RL   Submitted (DEC-1992) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Lung;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   INVOLVEMENT IN MCOPS3.
RX   PubMed=12612584; DOI=10.1038/ng1120;
RA   Fantes J., Ragge N.K., Lynch S.-A., McGill N.I., Collin J.R.O.,
RA   Howard-Peebles P.N., Hayward C., Vivian A.J., Williamson K.,
RA   van Heyningen V., FitzPatrick D.R.;
RT   "Mutations in SOX2 cause anophthalmia.";
RL   Nat. Genet. 33:461-463(2003).
RN   [5]
RP   BIOTECHNOLOGY, AND FUNCTION.
RX   PubMed=18035408; DOI=10.1016/j.cell.2007.11.019;
RA   Takahashi K., Tanabe K., Ohnuki M., Narita M., Ichisaka T., Tomoda K.,
RA   Yamanaka S.;
RT   "Induction of pluripotent stem cells from adult human fibroblasts by
RT   defined factors.";
RL   Cell 131:861-872(2007).
CC   -!- FUNCTION: Transcription factor that forms a trimeric complex with
CC       OCT4 on DNA and controls the expression of a number of genes
CC       involved in embryonic development such as YES1, FGF4, UTF1 and
CC       ZFP206 (By similarity). Critical for early embryogenesis and for
CC       embryonic stem cell pluripotency. May function as a switch in
CC       neuronal development. Keeps neural cells undifferentiated by
CC       counteracting the activity of proneural proteins and suppresses
CC       neuronal differentiation (By similarity).
CC   -!- SUBUNIT: Interacts with ZSCAN10 (By similarity). Interacts with
CC       SOX3 and FGFR1 (By similarity).
CC   -!- SUBCELLULAR LOCATION: Nucleus.
CC   -!- PTM: Sumoylation inhibits binding on DNA and negatively regulates
CC       the FGF4 transactivation (By similarity).
CC   -!- DISEASE: Defects in SOX2 are the cause of microphthalmia syndromic
CC       type 3 (MCOPS3) [MIM:206900]. Microphthalmia is a clinically
CC       heterogeneous disorder of eye formation, ranging from small size
CC       of a single eye to complete bilateral absence of ocular tissues
CC       (anophthalmia). In many cases, microphthalmia/anophthalmia occurs
CC       in association with syndromes that include non-ocular
CC       abnormalities. MCOPS3 is characterized by the rare association of
CC       malformations including uni- or bilateral anophthalmia or
CC       microphthalmia, and esophageal atresia with trachoesophageal
CC       fistula.
CC   -!- BIOTECHNOLOGY: POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 are the four
CC       Yamanaka factors. When combined, these factors are sufficient to
CC       reprogram differenciated cells to an embryonic-like state
CC       designated iPS (induced pluripotent stem) cells. iPS cells exhibit
CC       the morphology and growth properties of ES cells and express ES
CC       cell marker genes.
CC   -!- SIMILARITY: Contains 1 HMG box DNA-binding domain.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAA35997.1; Type=Erroneous initiation;
CC       Sequence=CAA83435.1; Type=Erroneous initiation;
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOX2";
CC   -!- WEB RESOURCE: Name=Wikipedia; Note=Sox2 entry;
CC       URL="http://en.wikipedia.org/wiki/Sox2";
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DR   EMBL; Z31560; CAA83435.1; ALT_INIT; mRNA.
DR   EMBL; L07335; AAA35997.1; ALT_INIT; mRNA.
DR   EMBL; BC013923; AAH13923.1; -; mRNA.
DR   IPI; IPI00009703; -.
DR   RefSeq; NP_003097.1; NM_003106.3.
DR   UniGene; Hs.518438; -.
DR   PDB; 1O4X; NMR; -; B=39-121.
DR   PDB; 2LE4; NMR; -; A=39-118.
DR   PDBsum; 1O4X; -.
DR   PDBsum; 2LE4; -.
DR   ProteinModelPortal; P48431; -.
DR   SMR; P48431; 39-117.
DR   STRING; P48431; -.
DR   PhosphoSite; P48431; -.
DR   DMDM; 1351091; -.
DR   PRIDE; P48431; -.
DR   Ensembl; ENST00000325404; ENSP00000323588; ENSG00000181449.
DR   GeneID; 6657; -.
DR   KEGG; hsa:6657; -.
DR   UCSC; uc003fkx.1; human.
DR   CTD; 6657; -.
DR   GeneCards; GC03P181429; -.
DR   H-InvDB; HIX0003891; -.
DR   HGNC; HGNC:11195; SOX2.
DR   HPA; CAB010648; -.
DR   MIM; 184429; gene.
DR   MIM; 206900; phenotype.
DR   neXtProt; NX_P48431; -.
DR   Orphanet; 77298; Anophthalmia/microphthalmia - esophageal atresia.
DR   Orphanet; 3157; Septo-optic dysplasia.
DR   PharmGKB; PA36032; -.
DR   eggNOG; prNOG19854; -.
DR   GeneTree; ENSGT00600000084340; -.
DR   HOGENOM; HBG446398; -.
DR   HOVERGEN; HBG105663; -.
DR   InParanoid; P48431; -.
DR   OMA; MSALQYN; -.
DR   OrthoDB; EOG4MPHQV; -.
DR   PhylomeDB; P48431; -.
DR   NextBio; 25951; -.
DR   ArrayExpress; P48431; -.
DR   Bgee; P48431; -.
DR   CleanEx; HS_SOX2; -.
DR   Genevestigator; P48431; -.
DR   GermOnline; ENSG00000181449; Homo sapiens.
DR   GO; GO:0005829; C:cytosol; IDA:UniProtKB.
DR   GO; GO:0005667; C:transcription factor complex; TAS:BHF-UCL.
DR   GO; GO:0035198; F:miRNA binding; IDA:UniProtKB.
DR   GO; GO:0005515; F:protein binding; IPI:UniProtKB.
DR   GO; GO:0043565; F:sequence-specific DNA binding; IDA:MGI.
DR   GO; GO:0003700; F:sequence-specific DNA binding transcription factor activity; IDA:UniProtKB.
DR   GO; GO:0044212; F:transcription regulatory region DNA binding; IDA:UniProtKB.
DR   GO; GO:0007050; P:cell cycle arrest; IDA:UniProtKB.
DR   GO; GO:0006325; P:chromatin organization; NAS:UniProtKB.
DR   GO; GO:0001714; P:endodermal cell fate specification; IDA:MGI.
DR   GO; GO:0001654; P:eye development; IEP:UniProtKB.
DR   GO; GO:0021781; P:glial cell fate commitment; NAS:UniProtKB.
DR   GO; GO:0048839; P:inner ear development; IEP:UniProtKB.
DR   GO; GO:0090090; P:negative regulation of canonical Wnt receptor signaling pathway; IDA:UniProtKB.
DR   GO; GO:0050680; P:negative regulation of epithelial cell proliferation; IDA:UniProtKB.
DR   GO; GO:0045665; P:negative regulation of neuron differentiation; ISS:UniProtKB.
DR   GO; GO:0001649; P:osteoblast differentiation; IDA:UniProtKB.
DR   GO; GO:0021983; P:pituitary gland development; IEP:UniProtKB.
DR   GO; GO:0043410; P:positive regulation of MAPKKK cascade; IDA:UniProtKB.
DR   GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB.
DR   GO; GO:0043281; P:regulation of cysteine-type endopeptidase activity involved in apoptotic process; IDA:UniProtKB.
DR   GO; GO:0070848; P:response to growth factor stimulus; IDA:UniProtKB.
DR   GO; GO:0009611; P:response to wounding; IEP:UniProtKB.
DR   GO; GO:0035019; P:somatic stem cell maintenance; IDA:UniProtKB.
DR   GO; GO:0006351; P:transcription, DNA-dependent; IEA:UniProtKB-KW.
DR   InterPro; IPR000910; HMG_HMG1/HMG2.
DR   InterPro; IPR009071; HMG_superfamily.
DR   InterPro; IPR022097; TF_SOX.
DR   Gene3D; G3DSA:1.10.30.10; HMG-box; 1.
DR   KO; K09267; -.
DR   Pfam; PF00505; HMG_box; 1.
DR   Pfam; PF12336; SOXp; 1.
DR   SMART; SM00398; HMG; 1.
DR   SUPFAM; SSF47095; HMG-box; 1.
DR   PROSITE; PS50118; HMG_BOX_2; 1.
PE   1: Evidence at protein level;
KW   3D-structure; Activator; Complete proteome; Developmental protein;
KW   DNA-binding; Isopeptide bond; Microphthalmia; Nucleus;
KW   Reference proteome; Transcription; Transcription regulation;
KW   Ubl conjugation.
FT   CHAIN         1    317       Transcription factor SOX-2.
FT                                /FTId=PRO_0000048715.
FT   DNA_BIND     41    109       HMG box.
FT   COMPBIAS     19     23       Poly-Gly.
FT   COMPBIAS     27     30       Poly-Ala.
FT   CROSSLNK    245    245       Glycyl lysine isopeptide (Lys-Gly)
FT                                (interchain with G-Cter in SUMO) (By
FT                                similarity).
FT   HELIX        47     62
FT   HELIX        68     79
FT   HELIX        84    104
SQ   SEQUENCE   317 AA;  34310 MW;  EFCCAFE3E3A2B67B CRC64;
     MYNMMETELK PPGPQQTSGG GGGNSTAAAA GGNQKNSPDR VKRPMNAFMV WSRGQRRKMA
     QENPKMHNSE ISKRLGAEWK LLSETEKRPF IDEAKRLRAL HMKEHPDYKY RPRRKTKTLM
     KKDKYTLPGG LLAPGGNSMA SGVGVGAGLG AGVNQRMDSY AHMNGWSNGS YSMMQDQLGY
     PQHPGLNAHG AAQMQPMHRY DVSALQYNSM TSSQTYMNGS PTYSMSYSQQ GTPGMALGSM
     GSVVKSEASS SPPVVTSSSH SRAPCQAGDL RDMISMYLPG AEVPEPAAPS RLHMSQHYQS
     GPVPGTAING TLPLSHM
//