GRIK2

Chr 6ARAD

glutamate ionotropic receptor kainate type subunit 2

Also known as: EAA4, GLR6, GLUK6, GLUR6, GluK2, MRT6, NEDLAS

NCBI Gene: 2898 ENSG00000164418 UniProt: Q13002 OMIM: 138244

This protein functions as an ionotropic glutamate receptor that forms cation-permeable channels gated by L-glutamate and kainic acid, serving as an excitatory neurotransmitter receptor in the central nervous system. Mutations cause intellectual developmental disorder and neurodevelopmental disorder with impaired language and ataxia with or without seizures, inherited in autosomal recessive or autosomal dominant patterns. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal recessive 6MIM #611092

Neurodevelopmental disorder with impaired language and ataxia and with or without seizuresMIM #619580

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.26

LOEUF· LoF intol.

LOF

Mechanism· G2P