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FLASH GENE
Symbol ESR1 contributors: mct - updated : 17-10-2018
HGNC name estrogen receptor 1
HGNC id 3467
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    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