ESR2
Homo sapiens
Gene Name: estrogen receptor 2 (ER beta)
Aliases: Erb; ESRB; ESTRB; NR3A2; ER-BETA; ESR-BETA
Chromosome No: 14
Chromosome Band: 14q23.2-q23.3
Genetic Category: Syndromic-Rare single gene variant-Genetic association
Aliases: Erb; ESRB; ESTRB; NR3A2; ER-BETA; ESR-BETA
Chromosome No: 14
Chromosome Band: 14q23.2-q23.3
Genetic Category: Syndromic-Rare single gene variant-Genetic association
Summary Statistics:
ASD Reports: 9
Recent Reports: 2
Annotated variants: 5
Associated CNVs: 3
Evidence score: 0
ASD Reports: 9
Recent Reports: 2
Annotated variants: 5
Associated CNVs: 3
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the ESR2 gene and both autism and Asperger syndrome (Chakrabarti et al., 2009).
Molecular Function
This gene encodes a member of the family of estrogen receptors
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.
ASD
Asperger syndrome
Positive Association
Association between single nucleotide polymorphisms in estrogen receptor 1/2 genes and symptomatic severity of autism spectrum disorder.
ASD
ASD severity (based on CARS scores)
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Highly Cited
Modulation of oestrogen receptor signalling by association with the activated dioxin receptor.
Highly Cited
Abnormal vascular function and hypertension in mice deficient in estrogen receptor beta.
Highly Cited
Postnatal sex reversal of the ovaries in mice lacking estrogen receptors alpha and beta.
Recent Recommendation
Estrogen receptor beta regulates the expression of tryptophan-hydroxylase 2 mRNA within serotonergic neurons of the rat dorsal raphe nuclei.
Recent Recommendation
DNA oxidation as triggered by H3K9me2 demethylation drives estrogen-induced gene expression.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN083C001
intron_variant, 2KB_upstream_variant
rs1271572
c.-1257T>G;c.-91+2334T>G;c.-90-12124T>G
A/C
Caucasian
Discovery
GEN083C002
intron_variant
rs1152582
c.*386G>C;c.*38+1583C>G
G/C
Caucasian
Discovery
GEN083C003
intron_variant
rs1152582
c.*386G>C;c.*38+1583C>G
96 Japanese ASD cases (83 males, 13 females; mean age 11.7, SD 7.12)
Replication
