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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SOX2 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 6657 Official gene symbol SOX2 Full name SRY (sex determining region Y)-box 2 Aliases ,ANOP3,MCOPS3,MGC2413, Gene summary This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq] Location Chromosome: 3   Locus: 3q26.3-q27 Gene position 181429722 - 181432224  Map Viewer Gene orientation plus Gene size 2503 bp Gene sequence >SOX2:87924868..87927370:Length=2503 CTATTAACTTGTTCAAAAAAGTATCAGGAGTTGTCAAGGCAGAGAAGAGAGTGTTTGCAA AAGGGGGAAAGTAGTTTGCTGCCTCTTTAAGACTAGGACTGAGAGAAAGAAGAGGAGAGA GAAAGAAAGGGAGAGAAGTTTGAGCCCCAGGCTTAAGCCTTTCCAAAAAATAATAATAAC AATCATCGGCGGCGGCAGGATCGGCCAGAGGAGGAGGGAAGCGCTTTTTTTGATCCTGAT TCCAGTTTGCCTCTCTCTTTTTTTCCCCCAAATTATTCTTCGCCTGATTTTCCTCGCGGA GCCCTGCGCTCCCGACACCCCCGCCCGCCTCCCCTCCTCCTCTCCCCCCGCCCGCGGGCC CCCCAAAGTCCCGGCCGGGCCGAGGGTCGGCGGCCGCCGGCGGGCCGGGCCCGCGCACAG CGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCCGCCGGGCCCGCAGCAAACTTC GGGGGGCGGCGGCGGCAACTCCACCGCGGCGGCGGCCGGCGGCAACCAGAAAAACAGCCC GGACCGCGTCAAGCGGCCCATGAATGCCTTCATGGTGTGGTCCCGCGGGCAGCGGCGCAA GATGGCCCAGGAGAACCCCAAGATGCACAACTCGGAGATCAGCAAGCGCCTGGGCGCCGA GTGGAAACTTTTGTCGGAGACGGAGAAGCGGCCGTTCATCGACGAGGCTAAGCGGCTGCG AGCGCTGCACATGAAGGAGCACCCGGATTATAAATACCGGCCCCGGCGGAAAACCAAGAC GCTCATGAAGAAGGATAAGTACACGCTGCCCGGCGGGCTGCTGGCCCCCGGCGGCAATAG CATGGCGAGCGGGGTCGGGGTGGGCGCCGGCCTGGGCGCGGGCGTGAACCAGCGCATGGA CAGTTACGCGCACATGAACGGCTGGAGCAACGGCAGCTACAGCATGATGCAGGACCAGCT GGGCTACCCGCAGCACCCGGGCCTCAATGCGCACGGCGCAGCGCAGATGCAGCCCATGCA CCGCTACGACGTGAGCGCCCTGCAGTACAACTCCATGACCAGCTCGCAGACCTACATGAA CGGCTCGCCCACCTACAGCATGTCCTACTCGCAGCAGGGCACCCCTGGCATGGCTCTTGG CTCCATGGGTTCGGTGGTCAAGTCCGAGGCCAGCTCCAGCCCCCCTGTGGTTACCTCTTC CTCCCACTCCAGGGCGCCCTGCCAGGCCGGGGACCTCCGGGACATGATCAGCATGTATCT CCCCGGCGCCGAGGTGCCGGAACCCGCCGCCCCCAGCAGACTTCACATGTCCCAGCACTA CCAGAGCGGCCCGGTGCCCGGCACGGCCATTAACGGCACACTGCCCCTCTCACACATGTG AGGGCCGGACAGCGAACTGGAGGGGGGAGAAATTTTCAAAGAAAAACGAGGGAAATGGGA GGGGTGCAAAAGAGGAGAGTAAGAAACAGCATGGAGAAAACCCGGTACGCTCAAAAAGAA AAAGGAAAAAAAAAAATCCCATCACCCACAGCAAATGACAGCTGCAAAAGAGAACACCAA TCCCATCCACACTCACGCAAAAACCGCGATGCCGACAAGAAAACTTTTATGAGAGAGATC CTGGACTTCTTTTTGGGGGACTATTTTTGTACAGAGAAAACCTGGGGAGGGTGGGGAGGG CGGGGGAATGGACCTTGTATAGATCTGGAGGAAAGAAAGCTACGAAAAACTTTTTAAAAG TTCTAGTGGTACGGTAGGAGCTTTGCAGGAAGTTTGCAAAAGTCTTTACCAATAATATTT AGAGCTAGTCTCCAAGCGACGAAAAAAATGTTTTAATATTTGCAAGCAACTTTTGTACAG TATTTATCGAGATAAACATGGCAATCAAAATGTCCATTGTTTATAAGCTGAGAATTTGCC AATATTTTTCAAGGAGAGGCTTCTTGCTGAATTTTGATTCTGCAGCTGAAATTTAGGACA GTTGCAAACGTGAAAAGAAGAAAATTATTCAAATTTGGACATTTTAATTGTTTAAAAATT GTACAAAAGGAAAAAATTAGAATAAGTACTGGCGAACCATCTCTGTGGTCTTGTTTAAAA AGGGCAAAAGTTTTAGACTGTACTAAATTTTATAACTTACTGTTAAAAGCAAAAATGGCC ATGCAGGTTGACACCGTTGGTAATTTATAATAGCTTTTGTTCGATCCCAACTTTCCATTT TGTTCAGATAAAAAAAACCATGAAATTACTGTGTTTGAAATATTTTCTTATGGTTTGTAA TATTTCTGTAAATTTATTGTGATATTTTAAGGTTTTCCCCCCTTTATTTTCCGTAGTTGT ATTTTAAAAGATTCGGCTCTGTATTATTTGAATCAGTCTGCCGAGAATCCATGTATATAT TTGAACTAATATCATCCTTATAACAGGTACATTTTCAACTTAAGTTTTTACTCCATTATG CACAGTTTGAGATAAATAAATTTTTGAAATATGGACACTGAAA OMIM ID 184429