Details for Gene GRIN2C

GENE NAME GRIN2C
CHROMOSOME 17
ENSEMBL ID None
ENTREZ ID ENSG00000161509
UNIPROT ACCESSION NUMBER Q14957
GO MOLECULAR FUNCTION ['glutamate-gated calcium ion channel activity', 'ligand-gated ion channel activity', 'signaling receptor activity', 'transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential', 'NMDA glutamate receptor activity', 'protein binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04020; hsa04024; hsa04080; hsa04713; hsa04720; hsa04724; hsa05010; hsa05014; hsa05017; hsa05020; hsa05022; hsa05030; hsa05031; hsa05033; hsa05034; R-HSA-112314; R-HSA-112315; R-HSA-112316; R-HSA-438064; R-HSA-438066; R-HSA-442755; R-HSA-6794361; R-HSA-6794362; R-HSA-8849932; R-HSA-9609736; R-HSA-9617324; R-HSA-9620244
1 combination linked to GRIN2C OLI1467
1 variant linked to GRIN2C GRIN2C:c.193C>T, p.Leu65Phe
1 disease linked to GRIN2C Rare pervasive developmental disorder

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