" /> SOX2 wt Allele - CISMeF





Preferred Label : SOX2 wt Allele;

NCIt synonyms : SRY (Sex Determining Region Y)-Box 2 wt Allele; ANOP3; MGC2413;

NCIt definition : Human SOX2 wild-type allele is located within 3q26.3-q27 and is approximately 3 kb in length. This allele, which encodes transcription factor SOX-2 protein, is involved in the modulation of transcription by RNA polymerase II.;

NCIt note : Mutations in the SOX2 gene result in allelic variants that are associated with bilateral anophthalmia, a severe form of structural eye malformation.; The SOX2 gene product can form ternary complexes with products of the POU2F1 and POU5F1 genes, but acts as an activator of transcription of the FGF4 gene only in conjunction with the POU5F1 gene product (GeneCards and SwissProt).;

GenBank Accession Number : NM_003106;

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12/05/2024


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