ESR1
Homo sapiens
Gene Name: estrogen receptor 1
Aliases: ER; ESR; Era; ESRA; NR3A1
Chromosome No: 6
Chromosome Band: 6q25.1-q25.2
Genetic Category: Syndromic-Genetic association-Rare single gene variant
Aliases: ER; ESR; Era; ESRA; NR3A1
Chromosome No: 6
Chromosome Band: 6q25.1-q25.2
Genetic Category: Syndromic-Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 11
Recent Reports: 5
Annotated variants: 5
Associated CNVs: 5
Evidence score: 0
ASD Reports: 11
Recent Reports: 5
Annotated variants: 5
Associated CNVs: 5
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the ESR1 gene and both autism and Asperger syndrome (Chakrabarti et al., 2009).
Molecular Function
Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues.
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)
Positive Association
Associations between polymorphisms in sex steroid related genes and autistic-like traits.
ALTs
Negative Association
Further investigations of the relation between polymorphisms in sex steroid related genes and autistic-like traits.
ALTs
Highly Cited
Postnatal sex reversal of the ovaries in mice lacking estrogen receptors alpha and beta.
Recent Recommendation
Definition of estrogen receptor pathway critical for estrogen positive feedback to gonadotropin-releasing hormone neurons and fertility.
Recent Recommendation
17Beta-estradiol regulation of T-type calcium channels in gonadotropin-releasing hormone neurons.
Recent Recommendation
Litter environment affects behavior and brain metabolic activity of adult knockout mice.
Recent Recommendation
Social environment alters central distribution of estrogen receptor alpha in juvenile prairie voles.
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
GEN082C001
intron_variant
rs11155819
c.644-2431T>C;c.650-2431T>C;c.125-2431T>C
C/T
Caucasian
Discovery
GEN082C002
intron_variant
rs7774230
c.643+317C>T;c.649+311C>T;c.124+317C>T
A to G
Caucasian
Discovery
GEN082C003
3_prime_UTR_variant
rs2747648
c.*2234C>T;c.*2437C>T
1771 individuals (884 males and 887 females) from The Child and Adolescent Twin Study in Sweden (CATSS), which were all assessed for autistic-like traits (ALTs).
Discovery
GEN082C004
intron_variant
rs11155819
c.644-2431T>C;c.650-2431T>C;c.125-2431T>C
96 Japanese ASD cases (83 males, 13 females; mean age 11.7, SD 7.12)
Replication
