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FLASH GENE

Symbol

NR2E1

contributors: mct/npt/shn - updated : 17-05-2023

HGNC name	nuclear receptor subfamily 2, group E, member 1
HGNC id	7973

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       gain of function in prostate cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer brain   therapeutic target to inhibit the development of NSC-derived brain tumors cancer reproductive prostate targeting the druggable NR2E1 may have a potential therapeutic significance in castration-resistant prostate cancer (CRPC) management

ANIMAL & CELL MODELS

	Mice lacking the Nr2e1 gene (Tlx&
	8722;/&
	8722;) are viable at birth but adults show a reduction in the size of rhinencephalic and limbic structures, including the olfactory, infrarhinal and entorhinal cortex, amygdala and dentate gyrus
	Nr2e1-null mice have retinal and optic nerve dystrophy, leading to blindness
	the extracellular assembly of fibronectin matrices by retinal astrocytes is severely impaired in mice null for Tlx, leading to defective scaffold formation and a complete failure of normal retinal vascular development
	Significant thinning of neocortex was observed in embryonic d 14.5 TLX-null brains with reduced nestin labeling and decreased cell proliferation in the germinal zone
	cerebrum and olfactory bulb hypoplasia, hallmarks of the Nr2e1-null phenotype, were not fully corrected in animals harboring one functional copy of human NR2E1 but retinal histology and electroretinograms are completely corrected
	mice lacking Tlx (Nr2e1(-/-)) display deficits in adult hippocampal neurogenesis and behavioural abnormalities