SOX2-OT

Chr 3

SOX2 overlapping transcript

Also known as: NCRNA00043, SOX2OT

NCBI Gene: 347689 ENSG00000242808 OMIM: 616338

This gene produces long non-coding RNAs that regulate expression of the SRY-box 2 (SOX2) gene and promote cell proliferation. Mutations cause autosomal dominant microphthalmia with coloboma and other ocular malformations, often presenting in early infancy. The gene shows high constraint against loss-of-function variants, indicating it is essential for normal eye development.

OMIM ResearchSummary from RefSeq

This gene produces alternatively spliced long non-coding RNAs. These RNAs were observed to be upregulated in tumor cells and positively correlated to expression of the SRY-box 2 gene. Overexpression of these transcripts may promote cell proliferation. [provided by RefSeq, Dec 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism