SYNGAP1
Summary: This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| synaptic Ras GTPase activating protein 1 | MIM:603384 | Ensembl:ENSG00000197283 | HGNC:HGNC:11497 | PA36279 | 6p21.32 |
GO terms in SYNGAP1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0014069 | postsynaptic density |
| CC | IEA | GO:0043198 | dendritic shaft |
| BP | TAS | GO:0000165 | MAPK cascade |
| BP | IEA | GO:0007265 | Ras protein signal transduction |
| BP | IEA | GO:0007389 | pattern specification process |
| BP | IEA | GO:0008542 | visual learning |
| BP | IEA | GO:0016358 | dendrite development |
| BP | IEA | GO:0043113 | receptor clustering |
| BP | IEA | GO:0043408 | regulation of MAPK cascade |
| BP | IEA | GO:0043524 | negative regulation of neuron apoptotic process |
| BP | IEA | GO:0043547 | positive regulation of GTPase activity |
| BP | ISS | GO:0046580 | negative regulation of Ras protein signal transduction |
| BP | ISS | GO:0048167 | regulation of synaptic plasticity |
| BP | IEA | GO:0048169 | regulation of long-term neuronal synaptic plasticity |
| BP | IEA | GO:0050771 | negative regulation of axonogenesis |
| BP | IEA | GO:0050803 | regulation of synapse structure or activity |
| MF | IEA | GO:0017124 | SH3 domain binding |
Gene expression in normal tissue: SYNGAP1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SYNGAP1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | ras_pathway | Regulation of Ras family activation |
| kegg | hsa04014 | Ras signaling pathway - Homo sapiens (human) |
| wikipathways | WP4223 | Ras Signaling |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-5658442 | Regulation of RAS by GAPs |
| reactome | R-HSA-5663202 | Diseases of signal transduction |
| reactome | R-HSA-5673001 | RAF/MAP kinase cascade |
| reactome | R-HSA-5683057 | MAPK family signaling cascades |
| reactome | R-HSA-5684996 | MAPK1/MAPK3 signaling |
| reactome | R-HSA-6802949 | Signaling by RAS mutants |
| reactome | R-HSA-6802957 | Oncogenic MAPK signaling |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD654 | SL 0101-1 | 1 |
| iGMDRD12 | Bicalutamide | 1 |
| iGMDRD427 | ABT737 | 3 |
| iGMDRD781 | Sirolimus | 2 |
| iGMDRD885 | Compound 110 | 2 |
| iGMDRD882 | CIL41 | 2 |
| iGMDRD562 | Navitoclax | 5 |
| iGMDRD152 | 179324-69-7 | 6 |
| iGMDRD718 | Pyrvinium pamoate | 3 |
| iGMDRD577 | BIX01294 | 3 |
| iGMDRD945 | ML214 | 3 |
| iGMDRD353 | PD0325901 | 2 |
| iGMDRD634 | SCHEMBL2608041 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SYNGAP1
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