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.
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.
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:
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:
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:
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:
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:
Description: Rnai IR1 based knockdown of stj in flies leads to reduced thermal nociception with <40% flies avoiding noxious heat in an enclosed chamber
Description: Panneuronal knockdown of stj using Gal4 also cause flies to show severely impaired response to thermal pain in an enclosed chamber as well
