GRIK2 encodes glutamate ionotropic receptor kainate type subunit 2 (908 aa). Ionotropic glutamate receptor that functions as a cation-permeable ligand-gated ion channel, gated by L-glutamate and the glutamatergic agonist kainic acid. Highest expression in Brain Cerebellar Hemisphere (95.5 TPM) and Brain Cerebellum (83.7 TPM).

Intellectual disability, autosomal recessive 6 is associated with mutations in the GRIK2 gene on chromosome 6.

The GRIK2 protein participates in Edited GRIK2 (GluR6), GRIK2 interacting proteins, and Edited GRIK2 homomer pathways.

GRIK2 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.5.

Genetic testing for GRIK2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 6 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 2 very common features, 7 common features.

No clinical trials have been registered for intellectual disability, autosomal recessive 6.

64 publications have been identified in PubMed for intellectual disability, autosomal recessive 6. Research spans Case Report / Case Series (55%), Review / Meta-Analysis (21%), and Diagnostic / Biomarker (7%).

Recent Publications

• Köseoğlu GM (2026). [PMID: 42153583](https://pubmed.ncbi.nlm.nih.gov/42153583/). *Am J Med Genet A*. [Diagnostic / Biomarker]

• Zhu L (2026). [PMID: 41721346](https://pubmed.ncbi.nlm.nih.gov/41721346/). *Orphanet journal of rare diseases*. [Case Report / Case Series]

• Pan X (2026). [PMID: 41764152](https://pubmed.ncbi.nlm.nih.gov/41764152/). *Journal of molecular medicine (Berlin, Germany)*. [Case Report / Case Series]

• Canavati C (2026). [PMID: 41842694](https://pubmed.ncbi.nlm.nih.gov/41842694/). *Genet Med*. [Basic Science / Preclinical]

• Kayhan G (2026). [PMID: 41751633](https://pubmed.ncbi.nlm.nih.gov/41751633/). *Genes*. [Basic Science / Preclinical]

• Tao W (2026). [PMID: 41873838](https://pubmed.ncbi.nlm.nih.gov/41873838/). *Human molecular genetics*. [Case Report / Case Series]

• Viudes CP (2026). [PMID: 41700350](https://pubmed.ncbi.nlm.nih.gov/41700350/). *Journal of pediatric endocrinology & metabolism : JPEM*. [Case Report / Case Series]

• Al-Shahrani H (2026). [PMID: 41897354](https://pubmed.ncbi.nlm.nih.gov/41897354/). *Biomolecules*. [Epidemiology / Natural History]

• Cesur Baltacı HN (2026). [PMID: 41064050](https://pubmed.ncbi.nlm.nih.gov/41064050/). *Molecular syndromology*. [Case Report / Case Series]

• Asahi Y (2026). [PMID: 41791722](https://pubmed.ncbi.nlm.nih.gov/41791722/). *Anesthesia progress*. [Case Report / Case Series]