GRIK5
Homo sapiens
Gene Name: Glutamate receptor, ionotropic, kainate 5
Aliases: EAA2, GRIK2, GluK5, KA2
Chromosome No: 19
Chromosome Band: 19q13.2
Genetic Category: Rare single gene variant-
Aliases: EAA2, GRIK2, GluK5, KA2
Chromosome No: 19
Chromosome Band: 19q13.2
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 10
Recent Reports: 2
Annotated variants: 11
Associated CNVs: 3
Evidence score: 3
ASD Reports: 10
Recent Reports: 2
Annotated variants: 11
Associated CNVs: 3
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Three de novo missense variants in the GRIK5 gene have been identified in simplex ASD cases, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=0.01) (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015).
Molecular Function
This gene encodes a protein that belongs to the glutamate-gated ionic channel family and forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
Damaging coding variants within kainate receptor channel genes are enriched in individuals with schizophrenia, autism and intellectual disabilities.
ASD, SCZ
Support
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
ASD
Support
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
ASD or autistic features
ADHD, behavioral problems
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD