HELP     Sign In
Search

Relevance to Autism

Rare mutations in the GLRA2 gene have been identified with autism (Piton et al., 2011). Rare variants experimentally shown to affect GLRA2 function in vitro and in vivo were identified in ASD probands in Pilorge et al., 2015.

Molecular Function

A ligand-gated channel mediating a chloride-dependent inhibitory neurotransmission

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Support
2-glycine receptors modulate adult hippocampal neurogenesis and spatial memory.
Support
Structure-Function Analysis of the GlyR 2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function.
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
De novo gene disruptions in children on the autistic spectrum.
ASD
Support
Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.
ASD
Support
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
ASD
Support
Alpha2-Containing Glycine Receptors Promote Neonatal Spontaneous Activity of Striatal Medium Spiny Neurons and Support Maturation of Glutamatergic ...
Highly Cited
Dendritic and postsynaptic localizations of glycine receptor alpha subunit mRNAs.
Highly Cited
Alternative splicing generates two variants of the alpha 1 subunit of the inhibitory glycine receptor.
Recent Recommendation
Differential expression of glycine receptor subunits in the rat basolateral and central amygdala.
Recent Recommendation
Glycinergic transmission in the Mammalian retina.
Recent Recommendation
Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism.
ASD
Recent Recommendation
Ginkgolide X is a potent antagonist of anionic Cys-loop receptors with a unique selectivity profile at glycine receptors.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN104R001 
 missense_variant 
 c.1049G>T 
 p.Arg350Leu 
 Familial 
 Maternal 
  
 GEN104R002 
 missense_variant 
 c.1261A>G 
 p.Ile421Val 
 Familial 
 Maternal 
 Multiplex 
 GEN104R003 
 missense_variant 
 c.16G>C 
 p.Val6Leu 
 De novo 
 NA 
 Simplex 
 GEN104R004 
 missense_variant 
 c.887C>T 
 p.Thr296Met 
 De novo 
 NA 
 Unknown 
 GEN104R005 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN104R006 
 missense_variant 
 c.458G>A 
 p.Arg153Gln 
 De novo 
 NA 
 Multiplex 
 GEN104R007 
 missense_variant 
 c.407A>G 
 p.Asn136Ser 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 17
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 2
 
X
Deletion
 1
 
X
Duplication
 4
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

Model Summary

Glra2 knockout mice did not show any electrophysiological responses to glycine.

References

Type
Title
Author, Year
Primary
Characterization of mice with targeted deletion of glycine receptor alpha 2.

M_GLRA2_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Homologous recombination mediated deletion of exons 6 and 7 of Glra2 gene and replacement with PGK-neo cassette.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line: 129/SvJ
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_GLRA2_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Synaptic transmission1
Decreased
Description: Decreased response to application of glycine or taurine in the presence of bicuculline of individual cortical neurons
Exp Paradigm: Patch clamp recordings of cortical neurons
 Whole-cell patch clamp
 E17
Ion influx and permeability: calcium1
Decreased
Description: Decreased calcium influx in response to glycine in cortical slices
Exp Paradigm: Calcium imaging of cortical slices
 Calcium imaging
 E17
General characteristics1
 No change
 General observations
 Unreported
Marker expression1
 No change
 In situ hybridization (ish)
 P0
Protein expression level evidence1
 No change
 In situ hybridization (ish)
 E17
Protein expression: in situ protein expression1
 No change
 In situ hybridization (ish)
 P0
Gait1
 No change
 NA
 Unreported
Brain morphology1
 No change
 Histology
 P0, adult
Morphology of the spinal cord1
 No change
 In situ hybridization (ish)
 E17
Morphology of the retina1
 No change
 Histology
 P0, 3 months
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Physiological parameters, Repetitive behavior, Seizure, Social behavior

No PIN Data Available
HELP
Copyright © 2017 MindSpec, Inc.