DISEASES

Disease-gene associations mined from literature

Literature associating GRIK2 and autosomal recessive non-syndromic intellectual disability

GRIK2 [ENSP00000397026]

Glutamate receptor, ionotropic, kainate 2; Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus. Modulates cell surface expression of NETO2 (By similarity).

Synonyms:  GRIK2,  GRIK2p,  hGRIK2,  D7RWZ8,  F8WEZ8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM