Glutamate Receptor, Ionotropic, Kainate 2

Alternative Names

  • GRIK2
  • Glutamate Receptor 6
  • GLR6
  • GLUR6
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OMIM Number

138244

NCBI Gene ID

2898

Uniprot ID

Q13002

Length

676,376 bases

No. of Exons

22

No. of isoforms

7

Protein Name

Glutamate receptor ionotropic, kainate 2

Molecular Mass

102583 Da

Amino Acid Count

908

Genomic Location

chr6:101,393,708-102,070,083

Gene Map Locus
6q16.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_021956.5:c.2179C>TSaudi ArabiaNC_000006.12:g.102035434C>TUncertain SignificanceLikely PathogenicIntellectual Developmental Disorder, Autosomal Recessive 6NG_009224.2:g.641405C>T; NM_021956.5:c.2179C>T; NP_068775.1:p.Arg727Ter14053233583064164
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