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 |
|---|---|---|---|---|---|
OMIM IDMIM:603384 Ensembl IDEnsembl:ENSG00000197283 HGNC IDHGNC:HGNC:11497 PHARMGKB IDPA36279 Map Location6p21.32 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SYNGAP1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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