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Table 1 Proteomic studies of important synaptic proteins

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

[43, 112,113,114,115,116,117,118,119,120]

Phosphorylation [121, 122]

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

[63, 126,127,128,129,130,131,132,133,134]

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

[79, 80, 137,138,139,140,141,142,143]

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

[64, 69, 70, 145,146,147]

N/A

N/A

DLG2

N/A

DLG3

Mental retardation

DLG4

Intellectual developmental disorder

CAMK2A

Mental retardation

Calcium/calmodulin-dependent protein kinase

Postsynaptic

[148, 149]

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

[71, 156, 157]

Phosphorylation [158]

3, 5

[159, 160]

2, 3, 5

[161]

SHANK2

Autism

SHANK3

Schizophrenia; Phelan-McDermid syndrome

SYNGAP1

Mental retardation

RAS GTPase activating protein

Postsynaptic

[83, 162]

Phosphorylation [72, 163, 164]

Ubiquitination [73]

2

[165]

HOMER1

N/A

Adaptor proteins

Postsynaptic

[101, 166]

N/A

N/A

HOMER2

Deafness

HOMER3

N/A

NLGN1

Autism

Adhesion proteins

Postsynaptic

[167, 168]

N/A

N/A

NLGN2

N/A

NLGN3

Autism

NLGN4

Autism; Mental retardation

NRXN1

Pitt-Hopkins-like syndrome 2; schizophrenia

Adhesion proteins

Presynaptic

[169, 170]

N/A

N/A

NRXN2

N/A

NRXN3

N/A

  1. aData were collected from the Online Mendelian Inheritance in Man database (https://www.omim.org/)
  2. bBrain regions represented by numbers (1) Olfactory bulb; (2) Cortex; (3) Hippocampus; (4) Cerebellum; (5) Striatum; (6) Thalamus; (7) Brain stem; (8) Putamen; (9). Colliculus; (10) Hindbrain