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 |