GRIK2 glutamate ionotropic receptor kainate type subunit 2
Gene ID: 2898, updated on 3-Apr-2024Gene type: protein coding
Also known as: EAA4; GLR6; MRT6; GLUK6; GLUR6; GluK2; NEDLAS
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- Go to complete Gene record for GRIK2
- Go to Variation Viewer for GRIK2 variants
Summary
Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive cognitive disability. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu GeneReviews: Not available | |
| Genome-wide association study of biochemical traits in Korcula Island, Croatia. GeneReviews: Not available | |
| Genome-wide association study of obsessive-compulsive disorder. GeneReviews: Not available | |
| GWAS of Longevity in CHARGE Consortium Confirms APOE and FOXO3 Candidacy. GeneReviews: Not available | |
| Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. GeneReviews: Not available | |
| Intellectual disability, autosomal recessive 6 | See labs |
| Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. GeneReviews: Not available | |
| Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 6q16.3
- Sequence:
- Chromosome: 6; NC_000006.12 (101393708..102070083)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GRIK2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GRIK2 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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