GRIK3
Homo sapiens
Gene Name: glutamate ionotropic receptor kainate type subunit 3
Aliases: EAA5, GLR7, GLUR7, GluK3, GluR7a
Chromosome No: 1
Chromosome Band: 1p34.3
Genetic Category: Genetic association-Rare single gene variant
Aliases: EAA5, GLR7, GLUR7, GluK3, GluR7a
Chromosome No: 1
Chromosome Band: 1p34.3
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 1
Evidence score: 2
ASD Reports: 7
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 1
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).
Molecular Function
Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. This receptor binds domoate > kainate >> L-glutamate = quisqualate >> AMPA = NMDA.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD
Positive Association
Association between the ionotropic glutamate receptor kainate3 (GRIK3) Ser310Ala polymorphism and schizophrenia in the Indian population.
SCZ
Positive Association
Association between the ionotropic glutamate receptor kainate 3 (GRIK3) ser310ala polymorphism and schizophrenia.
SCZ
Negative Association
No association between the ionotropic glutamate receptor kainate 3 gene ser310ala polymorphism and schizophrenia.
SCZ
Support
Damaging coding variants within kainate receptor channel genes are enriched in individuals with schizophrenia, autism and intellectual disabilities.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD