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Relevance to Autism

Rare variants in the EPHA6 gene have been identified with autism (Pinto et al., 2010).

Molecular Function

The encoded protein is a member of Eph family of receptor tyrosine kinases that are involved in establishing neuronal projections.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
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
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Highly Cited
Ephrin-A6, a new ligand for EphA receptors in the developing visual system.
Recent Recommendation
Learning and memory impairment in Eph receptor A6 knockout mice.
Recent Recommendation
Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation.
Recent Recommendation
Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharm...

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN079R001 
 copy_number_loss 
  
  
  
  
  
 GEN079R002 
 copy_number_loss 
  
  
  
  
  
 GEN079R003 
 copy_number_gain 
  
  
  
  
  
 GEN079R004 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN079R005a 
 intron_variant 
 c.385+1149G>A 
  
 Familial 
 Both parents 
 Simplex 
 GEN079R006 
 missense_variant 
 c.653C>T 
 p.Thr218Ile 
 De novo 
  
  
 GEN079R007 
 missense_variant 
 c.2990C>T 
 p.Ala997Val 
 De novo 
  
  
 GEN079R008 
 synonymous_variant 
 c.1428T>C 
 p.Cys476%3D 
 De novo 
  
 Simplex 
 GEN079R009 
 missense_variant 
 c.1675G>C 
 p.Ala559Pro 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Duplication
 1
 
3
Deletion-Duplication
 9
 
3
Duplication
 2
 
3
Deletion
 1
 

Model Summary

Epha6 is involved in neural circuits underlying aspects of learning and memory.

References

Type
Title
Author, Year
Primary
Learning and memory impairment in Eph receptor A6 knockout mice.

M_EPHA6_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Homologous recombination strategy to delete exon 1 of EphA6 gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6J-Tyrc-Brd
Genetic Background: C57BL/6J-Tyrc-Brd x 129S5/SvEvBrd
ES Cell Line: 129Sv/EvBrd
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_EPHA6_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Spatial reference memory1
Decreased
Description: Decreased spatial reference memory
Exp Paradigm: Hidden platform task of morris water maze task
 Morris water maze test
 11-12 weeks
Spatial learning1
Decreased
Description: Decreased spatial learning
Exp Paradigm: Reversal phase of morris water maze task
 Morris water maze test
 11-12 weeks
Cued or contextual fear conditioning1
Decreased
Description: Decreased index of cued fear conditioning demonstrated by decreased freezing response to tone
Exp Paradigm: Freezing response to tone
 Fear conditioning test
 11-12 weeks
General characteristics1
 No change
 General observations
 11-12 weeks
Size/growth1
 No change
 General observations
 11-12 weeks
Anxiety1
 No change
 Morris water maze test
 11-12 weeks
Depression1
 No change
 Tail suspension test
 11-12 weeks
General locomotor activity1
 No change
 Open field test
 11-12 weeks
Motor coordination and balance1
 No change
 Marble-burying test
 11-12 weeks
Swimming ability1
 No change
 Morris water maze test
 11-12 weeks
Brain morphology1
 No change
 Histology
 11-12 weeks
Pain or nociception1
 No change
 Hot plate test
 Unreported
Sensorimotor gating1
 No change
 Prepulse inhibition
 11-12 weeks
Startle response: acoustic stimulus1
 No change
 Acoustic startle reflex test
 11-12 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Molecular profile, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Social behavior

 

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