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[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Fetal brain;
DOI=10.1007/BF00411460; PubMed=7849401 [NCBI, ExPASy, EBI, Israel, Japan]
Stevanovic M.,
Zuffardi O.,
Collignon J.,
Lovell-Badge R.,
Goodfellow P.;
"The cDNA sequence and chromosomal location of the human SOX2 gene.";
Mamm. Genome 5:640-642(1994).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Retina;
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.
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Lung;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[4]
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INVOLVEMENT IN MCOPS3.
DOI=10.1038/ng1120; PubMed=12612584 [NCBI, ExPASy, EBI, Israel, Japan]
Fantes J.,
Ragge N.K.,
Lynch S.-A.,
McGill N.I.,
Collin J.R.O.,
Howard-Peebles P.N.,
Hayward C.,
Vivian A.J.,
Williamson K.,
van Heyningen V.,
FitzPatrick D.R.;
"Mutations in SOX2 cause anophthalmia.";
Nat. Genet. 33:461-463(2003).
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- FUNCTION: 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. Critical for early embryogenesis and for embryonic stem cell pluripotency (By similarity).
- SUBCELLULAR LOCATION: Nucleus.
- PTM: Sumoylation inhibits binding on DNA and negatively regulates the FGF4 transactivation (By similarity).
- DISEASE: Defects in SOX2 are the cause of microphthalmia syndromic type 3 (MCOPS3) [MIM:206900]. Microphthalmia is a clinically heterogeneous 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. MCOPS3 is characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula.
- SIMILARITY: Contains 1 HMG box DNA-binding domain.
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=SOX2";.
- WEB RESOURCE: Name=Wikipedia; Note=Sox2 entry; URL="http://en.wikipedia.org/wiki/Sox2";.
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Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms.
Distributed under the Creative Commons Attribution-NoDerivs License.
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| Length: 317 AA [This is the length of the unprocessed precursor] |
Molecular weight: 34310 Da [This is the MW of the unprocessed precursor] |
CRC64: EFCCAFE3E3A2B67B [This is a checksum on the sequence] |
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10 20 30 40 50 60
MYNMMETELK PPGPQQTSGG GGGNSTAAAA GGNQKNSPDR VKRPMNAFMV WSRGQRRKMA
70 80 90 100 110 120
QENPKMHNSE ISKRLGAEWK LLSETEKRPF IDEAKRLRAL HMKEHPDYKY RPRRKTKTLM
130 140 150 160 170 180
KKDKYTLPGG LLAPGGNSMA SGVGVGAGLG AGVNQRMDSY AHMNGWSNGS YSMMQDQLGY
190 200 210 220 230 240
PQHPGLNAHG AAQMQPMHRY DVSALQYNSM TSSQTYMNGS PTYSMSYSQQ GTPGMALGSM
250 260 270 280 290 300
GSVVKSEASS SPPVVTSSSH SRAPCQAGDL RDMISMYLPG AEVPEPAAPS RLHMSQHYQS
310
GPVPGTAING TLPLSHM
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P48431 in FASTA format |
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ExPASy Home page
CBR Canada
