SYNGAP1 [The Human Chemical-Genetic Interaction Map Project]

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======= SYNGAP1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SYNGAP1
  * **<color #00a2e8>Official Name</color>**: synaptic Ras GTPase activating protein 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8831|8831]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q96PV0|Q96PV0]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SYNGAP1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SYNGAP1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603384|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR- mediated miniature excitatory postsynaptic currents. Exhibits dual GTPase-activating specificity for Ras and Rap. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits (By similarity). {ECO:0000250}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|RasGAP|
|DUF3498|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|maintenance of postsynaptic specialization structure|
|maintenance of synapse structure|
|postsynaptic density organization|
|postsynaptic specialization organization|
|regulation of long-term neuronal synaptic plasticity|
|dendritic shaft|
|cellular component maintenance|
|receptor clustering|
|visual learning|
|negative regulation of Ras protein signal transduction|
|visual behavior|
|regulation of neuronal synaptic plasticity|
|negative regulation of small GTPase mediated signal transduction|
|negative regulation of axonogenesis|
|associative learning|
|localization within membrane|
|postsynapse organization|
|negative regulation of cell morphogenesis involved in differentiation|
|dendrite development|
|SH3 domain binding|
|negative regulation of neuron apoptotic process|
|learning|
|negative regulation of neuron projection development|
|negative regulation of cell projection organization|
|regulation of axonogenesis|
|regulation of synaptic plasticity|
|regulation of neuron apoptotic process|
|negative regulation of neuron death|
|negative regulation of neuron differentiation|
|regulation of synapse structure or activity|
|regulation of Ras protein signal transduction|
|Ras protein signal transduction|
|postsynaptic density|
|learning or memory|
|synapse organization|
|GTPase activator activity|
|negative regulation of neurogenesis|
|cognition|
|regulation of cell morphogenesis involved in differentiation|
|response to light stimulus|
|regulation of neuron death|
|negative regulation of nervous system development|
|small GTPase mediated signal transduction|
|negative regulation of cell development|
|regulation of small GTPase mediated signal transduction|
|glutamatergic synapse|
|MAPK cascade|
|signal transduction by protein phosphorylation|
|positive regulation of GTPase activity|
|pattern specification process|
|response to radiation|
|modulation of chemical synaptic transmission|
|regulation of trans-synaptic signaling|
|protein localization to membrane|
|regulation of GTPase activity|
|regulation of cell morphogenesis|
|regulation of neuron projection development|
|negative regulation of intracellular signal transduction|
|behavior|
|regulation of neuron differentiation|
|neuron projection development|
|regulation of plasma membrane bounded cell projection organization|
|negative regulation of cellular component organization|
|regulation of cell projection organization|
|negative regulation of cell differentiation|
|regulation of MAPK cascade|
|positive regulation of hydrolase activity|
|neuron development|
|regulation of neurogenesis|
|negative regulation of apoptotic process|
|negative regulation of programmed cell death|
|regulation of nervous system development|
|regulation of cell development|
|negative regulation of developmental process|
|protein phosphorylation|
|negative regulation of cell death|
|neuron differentiation|
|regulation of anatomical structure morphogenesis|
|plasma membrane bounded cell projection organization|
|response to abiotic stimulus|
|cell projection organization|
|negative regulation of multicellular organismal process|
|negative regulation of signal transduction|
|regulation of hydrolase activity|
|phosphorylation|
|negative regulation of cell communication|
|negative regulation of signaling|
|nervous system process|
|positive regulation of catalytic activity|
|regulation of protein phosphorylation|
|generation of neurons|
|regulation of apoptotic process|
|regulation of programmed cell death|
|cellular protein localization|
|regulation of phosphorylation|
|cellular macromolecule localization|
|negative regulation of response to stimulus|
|neurogenesis|
|cell development|
|regulation of cell death|
|intracellular signal transduction|
|positive regulation of molecular function|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of cell differentiation|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 8957
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.7 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SYNGAP1 Expression in NALM6 Cells: 5.7'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>