glutamate ionotropic receptor kainate type subunit 2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalIntellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalneurodevelopmental disorder with impaired language and ataxia and with or without seizures
intellectual disability, autosomal recessive 6
Seizure
epilepsy
migraine disorder
alcohol dependence
autosomal recessive non-syndromic intellectual disability
Lennox-Gastaut syndrome
complex neurodevelopmental disorder
Intellectual disability
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Glutamate receptor ionotropic, kainate 2
Ionotropic glutamate receptor that functions as a cation-permeable ligand-gated ion channel, gated by L-glutamate and the glutamatergic agonist kainic acid (PubMed:7536611, PubMed:8730589, PubMed:14511640). L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system (By similarity). Binding of the excitatory neurotransmitter L-glutamate induces a conformational change leading to the opening of the cation channel, converting the chemical signal to an electrical impulse (By similarity). The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist (PubMed:14511640, PubMed:28180184, PubMed:34375587, PubMed:7536611, PubMed:8730589). Modulates cell surface expression of NETO2 (By similarity). In association with GRIK3, involved in presynaptic facilitation of glutamate release at hippocampal mossy fiber synapses (By similarity)
Curated MONDO disease pages that list GRIK2 among their top associated genes.
GRIK2 · Q13002
Mean pLDDT
83.6/ 100
Confident
908 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
