From: Proteomic insights into synaptic signaling in the brain: the past, present and future
Gene name | Associated diseasea | Molecular function | Subsynaptic location | PPI studies | PTM studies | Brain region-specific studiesb |
---|---|---|---|---|---|---|
GRIA1 | Impaired intellectual development | AMPA glutamate receptor | Postsynaptic | Nitrosylation [123] | 1–7 [124] 2–4 [125] | |
GRIA2 | Neurodevelopmental disorder | |||||
GRIA3 | Intellectual developmental disorder | |||||
GRIA4 | Neurodevelopmental disorders | |||||
GRIN1 | Neurodevelopmental disorder | NMDA glutamate receptor | Postsynaptic | Phosphorylation [93, 127, 135, 136] Ubiquitination [133] | 1–4, 6, 8, 9, 10 [130] | |
GRIN2A | Epilepsy | |||||
GRIN2B | Mental retardation; Epileptic encephalopathy | |||||
GRIN2C | N/A | |||||
GRIN2D | Epileptic encephalopathy | |||||
GRM1 | Spinocerebellar ataxia | G-protein coupled receptor for glutamate | Postsynaptic | Phosphorylation [144] | 2, 3 [77] | |
GRM3 | N/A | |||||
GRM4 | N/A | |||||
GRM5 | N/A | |||||
GRM6 | Congenital stationary night blindness | |||||
GRM7 | Neurodevelopmental disorder | |||||
DLG1 | N/A | Scaffold protein | Postsynaptic | N/A | N/A | |
DLG2 | N/A | |||||
DLG3 | Mental retardation | |||||
DLG4 | Intellectual developmental disorder | |||||
CAMK2A | Mental retardation | Calcium/calmodulin-dependent protein kinase | Postsynaptic | Phosphorylation [149,150,151,152,153,154] Carbonylation [155] | N/A | |
CAMK2B | Mental retardation | |||||
CAMK2D | N/A | |||||
CAMK2G | Intellectual developmental disorder; early infantile epileptic encephalopathy | |||||
SHANK1 | N/A | Scaffold protein | Postsynaptic | Phosphorylation [158] | 3, 5 2, 3, 5 [161] | |
SHANK2 | Autism | |||||
SHANK3 | Schizophrenia; Phelan-McDermid syndrome | |||||
SYNGAP1 | Mental retardation | RAS GTPase activating protein | Postsynaptic | Phosphorylation [72, 163, 164] Ubiquitination [73] | 2 [165] | |
HOMER1 | N/A | Adaptor proteins | Postsynaptic | N/A | N/A | |
HOMER2 | Deafness | |||||
HOMER3 | N/A | |||||
NLGN1 | Autism | Adhesion proteins | Postsynaptic | N/A | N/A | |
NLGN2 | N/A | |||||
NLGN3 | Autism | |||||
NLGN4 | Autism; Mental retardation | |||||
NRXN1 | Pitt-Hopkins-like syndrome 2; schizophrenia | Adhesion proteins | Presynaptic | N/A | N/A | |
NRXN2 | N/A | |||||
NRXN3 | N/A |