FIGURE: 1 / 2
Immunogen sequence: GYSQGTTHV LRFGGIFEYV ESGPMGAEEL AFRFAVNTIN RNRTLLPNTT LTYDTQKINL YDSFEASKKA CDQLSLGVAA IFGPSHSSSA NAVQSICNAL GVPHIQTRWK HQVSDNKDSF YVSLYPDFSS LSRAILDLVQ FFKWKTVTVV YDDSTGLIRL QELIKAPSRY NLRLKIRQLP ADTKDAKPLL KEMKRGKEFH VIFDCSHEMA AGILKQALAM GMMTEYYHYI FTTLDLFALD VEPYRYSGVN MTGFRILNTE NTQVSSIIEK WSMERLQAPP KPDSGLLDGF MTMEFHSCCP GWSAMARSHL TATSASWVQA ILLPQPPE (27-353 aa encoded by BC037954 )
Glutamate receptors are the primary excitatory neurotransmitter receptors in the mammalian brain and are activated during various normal neurophysiological processes. The kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels, includes this gene product. The subunit encoded by this gene is edited at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Furthermore, different isoforms of this gene have been described due to alternatively spliced transcript variants. Mutations in this gene have been linked to autosomal recessive cognitive disability. GRIK2-associated diseases include Neurodevelopmental Disorder with Impaired Language and Ataxia and with or without Seizures and Intellectual Developmental Disorder, Autosomal Recessive 6.
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Protein Aliases: bA487F5.1; EAA4; Excitatory amino acid receptor 4; GLR 6; GluK2; GLUR 6; gluR beta-2; GluR-6; glutamate receptor; Glutamate receptor 6; glutamate receptor beta-2; glutamate receptor form A; glutamate receptor form B; glutamate receptor form C; glutamate receptor form D; glutamate receptor form E; Glutamate receptor ionotropic, kainate 2; glutamate receptor, ionotropic kainate 2; glutamate receptor, ionotropic, kainate 2; GRIK 2; GRIK2 protein
Gene Aliases: AW124492; EAA4; GLR6; GluK2; GLUK6; Glur-6; GLUR6; Glurbeta2; GRIK2; MRT6
Molecular Function: transmembrane signal receptor