Gene: SOX2
Alternate names for this Gene: ANOP3|MCOPS3
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).
Gene is located in Chromosome: 3
Location in Chromosome : 3q26.33
Description of this Gene: SRY-box transcription factor 2
Type of Gene: protein-coding
Gene: SOX2-OT
Alternate names for this Gene: NCRNA00043|SOX2OT
Gene Summary: 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.
Gene is located in Chromosome: 3
Location in Chromosome : 3q26.33
Description of this Gene: SOX2 overlapping transcript
Type of Gene: ncRNA
rs104893805 in
SOX2;SOX2-OT gene and
Microphthalmia, Syndromic 3
PMID 24033328 2014 Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
PMID 12612584 2003 Mutations in SOX2 cause anophthalmia.
PMID 19921648 2009 Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
PMID 24211324 2014 A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.
PMID 24498598 2013 Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.
PMID 22171155 2011 Parent-of-origin effects in SOX2 anophthalmia syndrome.
rs1553862987 in
SOX2;SOX2-OT gene and
Multiple congenital anomalies
PMID 15578584 2005 Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry.
PMID 15812812 2005 SOX2 anophthalmia syndrome.
PMID 19921648 2009 Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
PMID 20803647 2010 Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.
PMID 16145681 2005 SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
PMID 27427475 2016 Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.
PMID 17219395 2007 Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.
PMID 16932809 2006 Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.