GRIK2 Chromosome 6
Glutamate ionotropic receptor kainate type subunit 2
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What This Gene Does
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]
Gene Info
Gene Group
Glutamate ionotropic receptor kainate type subunits
Locus Type
gene with protein product
Location
6q16.3
Ensembl
ENSG00000164418
Associated Conditions (11)
Lip and oral cavity carcinoma
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
Inborn genetic diseases
Intellectual disability
autosomal recessive 6
Autistic behavior
Gait ataxia
Severe global developmental delay
GRIK2-related neurodevelopmental disorder
6 conditions
Hyperintensity of cerebral white matter on MRI
Key Variants
RS1335022
association
Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
Health Risk
RS1405323358
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
Health Risk
RS370196358
Conflicting classifications of pathogenicity
Health Risk
RS751662930
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS767667188
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 6, Inborn genetic diseases
Health Risk
RS1265340906
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1304867450
Likely pathogenic
Health Risk
RS140472463
Likely pathogenic
Health Risk
RS2128471633
Likely pathogenic
Health Risk
RS2128471643
Likely pathogenic
Autistic behavior, Autistic behavior
Health Risk
RS2483041289
Likely pathogenic
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
Health Risk
RS2484177690
Likely pathogenic
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1335022 | Health Risk | association | Lip and oral cavity carcinoma, Lip and oral cavity carcinoma |
| RS1405323358 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, Neurodevelopmental disorder with impaired language and ataxia and with or without seizures |
| RS370196358 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751662930 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767667188 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 6, Inborn genetic diseases |
| RS1265340906 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1304867450 | Health Risk | Likely pathogenic | — |
| RS140472463 | Health Risk | Likely pathogenic | — |
| RS2128471633 | Health Risk | Likely pathogenic | — |
| RS2128471643 | Health Risk | Likely pathogenic | Autistic behavior, Autistic behavior |
| RS2483041289 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, Neurodevelopmental disorder with impaired language and ataxia and with or without seizures |
| RS2484177690 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, Neurodevelopmental disorder with impaired language and ataxia and with or without seizures |
| RS1790057505 | Health Risk | Pathogenic | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, Inborn genetic diseases, Intellectual disability |
| RS1790058081 | Health Risk | Pathogenic | GRIK2-related neurodevelopmental disorder, 6 conditions, Neurodevelopmental disorder with impaired language and ataxia and with or without seizures |
| RS749995448 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 6, Intellectual disability |