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FLASH GENE

Symbol

ESR1

contributors: mct - updated : 17-10-2018

HGNC name	estrogen receptor 1
HGNC id	3467

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 fusion       with TNFRSF6 in several cancer cell lines (prostate, breast, cervical bladder) tumoral     --low   by hypermethylation, methylation being both age-dependent and tumor differentiation-dependent, in late- stage prostate carcinoma tumoral   amplification     in proliferative breast disease and breast cancer constitutional       loss of function inactivation through methylation of TUSC3 and ESR1 associated with ulcerative colitis, but not with colrectal carcinoma tumoral   amplification     may be an early event in endometrial carcinoma development

Susceptibility

several cancer cell lines (prostate, breast, cervical bladder) to reduced hip bone mass density and to risk of femoral neck bone loss in postmenopausal women to low lumbar bone mass density in postmenopausal women to estrogenic effects of environmental endocrine disruptors in cryptorchidism to risk of hypospadias to type 2 diabetes patients with nephropathy to idiopathic male infertility to breast cancer

Variant & Polymorphism SNP , repeat , other	(TA)n repeat variant (short alleles)
	haplotype px associated with reduced hip bone mass density and risk of femoral neck bone loss in postmenopausal women
	G allele containing variants of ESR1 XbaI may decrease the risk of hypospadias, whereas the ESR1 C-A haplotype may increase its risk
	homozygosity for the specific ESR1 haplotype in the development of cryptorchidism
	SNP increasing the risk of type 2 diabetes patients with nephropathy
	variant associated with idiopathic male infertility
	SNP rs2046210 at 6q25.1, located upstream of ESR1, showed strong and consistent association with breast cancer across all three stages (Zheng 2009)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative alzheimer role for therapeutic selective ESR1 modulation in the attenuation or prevention of toxic oligomeric Abeta species formation in ALzheimer and related disorders

ANIMAL & CELL MODELS

osteoporotic phenotype of Esr1(-/NERKI) mice may involve the suppression of Lef1-mediated Wnt signaling through both the stimulation of secreted Wnt inhibitors and/or disruption of normal CTNNB function