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Relevance to Autism

Genetic association has been found between the ESRRB gene and autism in two large cohorts (AGRE and ACC) of European ancestry and replicated in two other cohorts (CAP and CART) (Wang et al., 2009).

Molecular Function

steroid hormone receptor, transcription factor

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
ASD
Positive Association
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
ASD
DD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Highly Cited
Chromosomal mapping of the human and murine orphan receptors ERRalpha (ESRRA) and ERRbeta (ESRRB) and identification of a novel human ERRalpha-rela...
Recent Recommendation
Integration of external signaling pathways with the core transcriptional network in embryonic stem cells.
Recent Recommendation
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
Recent Recommendation
Esrrb activates Oct4 transcription and sustains self-renewal and pluripotency in embryonic stem cells.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN084R001 
 copy_number_gain 
  
  
 Unknown 
 Unknown 
 Unknown 
 GEN084R002a 
 missense_variant 
 c.1427G>A 
 p.Arg476His 
 Familial 
 Paternal 
 Simplex 
 GEN084R002b 
 missense_variant 
 c.16A>G 
 p.Arg6Gly 
 Familial 
 Maternal 
 Simplex 
 GEN084R003 
 synonymous_variant 
 c.663G>A 
 p.Pro221%3D 
 De novo 
  
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN084C001 
 intergenic_variant 
 rs17783432 
  
  
 US and European 
 Discovery 
 GEN084C002 
 intergenic_variant 
 rs17783432 
  
  
 Discovery cohort: 2165 participants from AGRE 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
14
Duplication
 1
 
14
Deletion-Duplication
 19
 
14
Deletion
 7
 

Model Summary

Identification of a set of genes that is likely to play a role in the development and/or function of endolymph-producing epithelia.

References

Type
Title
Author, Year
Primary
Estrogen-related receptor beta/NR3B2 controls epithelial cell fate and endolymph production by the stria vascularis.

M_ESRRB_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Esrrb gene KO with deletion of exon 2 of the gene using Sox2-cre, activated in embryonic tissue when inherited paternally and not in extraembryonic tissue to circumvent loss of embryos due to placental abnormalities
Allele Type: Knockout
Strain of Origin: C57BL/6
Genetic Background: Not Specified
ES Cell Line: 129/SvJ
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_ESRRB_2_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exon 2 of Esrrb gene using a Nestin-cre in neuronal, glial and other cell types in the central and peripheral nervous system with specific studies conducted by authors on the marginal and vestibular dark cells
Allele Type: Conditional loss-of-function
Strain of Origin: C57BL/7
Genetic Background: Not Specified
ES Cell Line: 129/SvJ
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_ESRRB_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Circling1
Increased
Description: Increased circling behavior
Exp Paradigm: General observations
 General observations
 Unreported
Head bobbing1
Increased
Description: Increased head bobbing behavior
Exp Paradigm: General observations
 General observations
 Unreported
Startle response: acoustic stimulus1
Decreased
Description: Absence of auditory startle reflex; increased auditory brainstem response (abr) threshold
Exp Paradigm: Response to white noise stimulus; analysis and recording of responses to broadband clicks in brainstem
 Acoustic startle reflex test
 1-3 month
Inner ear anatomy: strial marginal cells1
Abnormal
Description: Abnormal expression of sc-20475 antigen in strial marginal and vestibular dark cells; abnormal expression of pendrin in strial marginal cells; absence of actin
Exp Paradigm: Immunostaining of inner ears with antibody against sc-20475 and pendrin
 Immunohistochemistry
 Unreported
Integumentary system development1
Decreased
Description: Decreased kcnj10 potassium channel expression; absence of intraepithelial capillaries
Exp Paradigm: Anti-pecam and kcnj10 immunostaining
 Immunohistochemistry
 P3
Integumentary system development1
Decreased
Description: Decreased expression of transcripts coding for lysine-deficient protein kinase 4 (wnk4), l-dopachrome tautomerase (dct), prostaglandin d2 synthase (ptgds)
Exp Paradigm: Microarray hybridization
 Gene expression microarray
 P3-p21
Protein expression level evidence1
Decreased
Description: Decreased expression of transcripts encoding kcnq1, kcne1, atp1b2, and atp1a1 multiple ion channel and transporters
Exp Paradigm: Multiple ion channel and transporter expression
 In situ hybridization (ish)
 P3-p4
Gene expression1
Decreased
Description: Decreased abundance of genes kcne1, aldh1a2, rsp3, ptgds, atp1b2, slc12a2, kcng1, and wnk4
Exp Paradigm: Gene expression
 Gene expression microarray
 Unreported
General characteristics1
 No change
 General observations
 Unreported
Inner ear anatomy1
 No change
 Macroscopic analysis
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Seizure, Social behavior

M_ESRRB_2_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Head bobbing1
Increased
Description: Increased head bobbing behavior
Exp Paradigm: General observations
 General observations
 Unreported
Circling1
Increased
Description: Increased circling behavior
Exp Paradigm: General observations
 General observations
 Unreported
Inner ear anatomy: strial marginal cells1
Abnormal
Description: Abnormal expression of sc-20475 antigen in strial marginal and vestibular dark cells; abnormal expression of pendrin in strial marginal cells; absence of actin
Exp Paradigm: Immunostaining of inner ears with antibody against sc-20475 and pendrin
 Immunohistochemistry
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased expression of transcript encoding kcnq ion channel and transporter
Exp Paradigm: Multiple ion channel and transporter expression- northern blot
 Northern blot
 P3-p4
Gene expression1
Decreased
Description: Decreased abundance of genes kcne1, aldh1a2, rsp3, ptgds, atp1b2, slc12a2, kcng1, and wnk4
Exp Paradigm: Gene expression
 Gene expression microarray
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased expression of transcript encoding kcnq ion channel and transporter
Exp Paradigm: Multiple ion channel and transporter expression-in situ hybridization (ish)
 In situ hybridization (ish)
 P3-p4
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Seizure, Social behavior

 

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