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FLASH GENE

Symbol

SOX2

contributors: mct/shn - updated : 01-03-2018

HGNC name	SRY (sex determining region Y)-box 2
HGNC id	11195

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ANOP3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   result in precocious hair cell differentiation and an over production of inner hair cells and these effects are likely mediated through an antagonistic interaction between SOX2 and ATOH1 tumoral   amplification     in small-cell lung cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive ovary offers crucial molecular insights and promises to develop putative candidate therapeutic interventions in women with ovarian cancer cancer bone   novel therapeutic strategies based on inhibiting SOX2 or enhancing Wnt signaling for the treatment of osteosarcomas

ANIMAL & CELL MODELS

	compound Sox2(beta-geo/DeltaENH) heterozygote mice show important cerebral malformations, with parenchymal loss and ventricle enlargement, and L-dopa-rescuable circling behaviour and epilepsy (
	absence in Lcc/Lcc mice or reduced expression in YYsb/Ysb mice of the transcription factor SOX2 lead to hearing and balance impairment (
	Mice heterozygous for a targeted disruption of Sox2 showed abnormal anterior pituitary development with reduced levels of growth hormone, luteinizing hormone, and thyroid-stimulating hormone (
	SOX2-overexpressing cells exhibit cell-cycle arrest and apoptosis and may be related to gastric carcinogenesis and poor prognosis (
	knockdown of Sox2 in Human embryonic stem cells results in reduced expression of several key stem cell factors, including Oct4 and Nanog (
	SOX2 silencing caused human Müller stem cells to rapidly adopt a neural-like morphology and induced apoptosis, suggesting a crucial role of this factor on human Müller stem cells survival in vitro (