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Relevance to Autism

This gene was identified in an ASD whole-exome sequencing study and subsequent TADA (transmission and de novo association) analysis as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (De Rubeis et al., 2014).

Molecular Function

This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo gene disruptions in children on the autistic spectrum.
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
ASD
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Dysmorphic features
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Recent Recommendation
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN656R001 
 splice_site_variant 
 c.2057-2A>G 
  
 De novo 
 NA 
 Simplex 
 GEN656R002 
 stop_gained 
 c.1522G>T 
 p.Glu508Ter 
 De novo 
 NA 
 Simplex 
 GEN656R003 
 missense_variant 
 c.1733G>A 
 p.Arg578Gln 
 Familial 
  
 Simplex 
 GEN656R004 
 missense_variant 
 c.2092G>A 
 p.Ala698Thr 
 Familial 
  
 Simplex 
 GEN656R005 
 missense_variant 
 c.2266G>A 
 p.Asp756Asn 
 Familial 
  
 Simplex 
 GEN656R006 
 missense_variant 
 c.2191C>G 
 p.Arg731Gly 
 Familial 
  
 Simplex 
 GEN656R007 
 missense_variant 
 c.1993C>T 
 p.Arg665Cys 
 Unknown 
  
 Unknown 
 GEN656R008 
 missense_variant 
 c.613C>G 
 p.Arg205Gly 
 Unknown 
  
 Unknown 
 GEN656R009 
 missense_variant 
 c.2318C>T 
 p.Ala773Val 
 Familial 
 Maternal 
  
 GEN656R010 
 missense_variant 
 c.2318C>T 
 p.Ala773Val 
 Familial 
 Maternal 
  
 GEN656R011 
 missense_variant 
 c.823G>A 
 p.Ala275Thr 
 Familial 
 Paternal 
  
 GEN656R012 
 translocation 
  
  
 De novo 
 NA 
  
 GEN656R013 
 splice_site_variant 
 A>T 
 p.? 
 Familial 
  
 Multiplex 
 GEN656R014 
 splice_site_variant 
 c.1398+1G>A 
  
 Familial 
 Maternal 
 Simplex 
 GEN656R015 
 missense_variant 
 c.2749G>A 
 p.Ala917Thr 
 Familial 
 Maternal 
 Simplex 
 GEN656R016 
 missense_variant 
 c.2093C>T 
 p.Ala698Val 
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 15
 
3
Deletion
 7
 
3
Deletion
 1
 
3
Deletion
 2
 
3
Deletion
 1
 

Model Summary

stj knockdown in flies reduces pain perception but renders no change in brain morphology, stj knockdown in mice reduces thermal pain perception and increases sensory cross-activation.

References

Type
Title
Author, Year
Primary
A genome-wide Drosophila screen for heat nociception identifies 23 as an evolutionarily conserved pain gene.

F_CACNA2D3^2

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: A point mutation in the stj gene.
Allele Type: Knockout
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_CACNA2D3^2/DEF

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Point mutation in stj gene carried over a corresponding deficiency.
Allele Type: Knockout
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_CACNA2D3_IR1

Model Type: Genetic
Model Genotype: Transgenic
Mutation: Dicer-mediated RNAi of stj in neurons using inverted repeat 1, this leads to significant reduction in stj levels in fly brains, to less than 20%.
Allele Type: Knockdown
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_CACNA2D3_IR2

Model Type: Genetic
Model Genotype: Transgenic
Mutation: Dicer-mediated RNAi of stj in neuronsusing a different hairpin IR2, this leads to reduction in stj levels as well, to about 40% of wild type.
Allele Type: Knockdown
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_CACNA2D3_IR2-ELAVGAL4>UAS

Model Type: Genetic
Model Genotype: Transgenic
Mutation: Pan-neuronal knockdown of straitjacket using the elav-Gal4 driver.
Allele Type: Knockdown
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_CACNA2D3^2

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Pain or nociception: thermal1
Decreased
Description: Stj^2 mutant larvae have impaired thermal nociception
 Avoidance of noxious heat
 first and second instar larvae
Touch1
 No change
 Gentle touch test
 first and second instar larvae
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Social behavior

F_CACNA2D3^2/DEF

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Pain or nociception: thermal1
Decreased
Description: Stj point mutation (stj^2) over a corresponding deficiency causes impaired thermal nociception in flies
 Avoidance of noxious heat
 first and second instar larvae
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Social behavior

F_CACNA2D3_IR1

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Pain or nociception: thermal1
Decreased
Description: Rnai IR1 based knockdown of stj in flies leads to reduced thermal nociception with <40% flies avoiding noxious heat in an enclosed chamber
 Avoidance of noxious heat
 adult stage
Brain morphology1
 No change
 Immunohistochemistry
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Social behavior

F_CACNA2D3_IR2

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Pain or nociception: thermal1
Decreased
Description: Rnai IR2 based knocdown of stj in flies leads to reduced thermal nociception with<60% avoidance of high temperature
 Avoidance of noxious heat
 adult stage
Brain morphology1
 No change
 Histology
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Social behavior

F_CACNA2D3_IR2-ELAVGAL4>UAS

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Pain or nociception: thermal1
Decreased
Description: Panneuronal knockdown of stj using Gal4 also cause flies to show severely impaired response to thermal pain in an enclosed chamber as well
 Avoidance of noxious heat
 adult stage
Brain morphology1
 No change
 Histology
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Social behavior

 

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