======= SHANK3 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SHANK3
  * **<color #00a2e8>Official Name</color>**: SH3 and multiple ankyrin repeat domains 3
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=85358|85358]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9BYB0|Q9BYB0]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SHANK3&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SHANK3|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606230|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Major scaffold postsynaptic density protein which interacts with multiple proteins and complexes to orchestrate the dendritic spine and synapse formation, maturation and maintenance. Interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and HOMER, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction through the interaction with Arp2/3 and WAVE1 complex as well as the promotion of the F-actin clusters. By way of this control of actin dynamics, participates in the regulation of developing neurons growth cone motility and the NMDA receptor-signaling. Also modulates GRIA1 exocytosis and GRM5/MGLUR5 expression and signaling to control the AMPA and metabotropic glutamate receptor- mediated synaptic transmission and plasticity. May be required at an early stage of synapse formation and be inhibited by IGF1 to promote synapse maturation. {ECO:0000269|PubMed:24132240}.

<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'>
|SAM 2|
|Ank 2|
|SAM 1|
|SH3 2|
|PDZ|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|guanylate kinase-associated protein clustering|
|positive regulation of synapse structural plasticity|
|GKAP/Homer scaffold activity|
|striatal medium spiny neuron differentiation|
|glutamate receptor clustering|
|AMPA glutamate receptor clustering|
|NMDA glutamate receptor clustering|
|positive regulation of long-term neuronal synaptic plasticity|
|negative regulation of cell volume|
|synaptic growth at neuromuscular junction|
|neuron spine|
|vocal learning|
|postsynaptic density assembly|
|imitative learning|
|regulation of synapse structural plasticity|
|neurotransmitter-gated ion channel clustering|
|observational learning|
|positive regulation of AMPA receptor activity|
|postsynaptic specialization assembly|
|learned vocalization behavior or vocal learning|
|auditory behavior|
|ionotropic glutamate receptor complex|
|regulation of long-term synaptic depression|
|excitatory synapse assembly|
|mechanosensory behavior|
|positive regulation of glutamate receptor signaling pathway|
|postsynaptic density organization|
|striatum development|
|vocalization behavior|
|postsynaptic specialization organization|
|dendritic spine morphogenesis|
|postsynapse assembly|
|positive regulation of long-term synaptic potentiation|
|receptor signaling complex adaptor activity|
|negative regulation of actin filament bundle assembly|
|subpallium development|
|regulation of AMPA receptor activity|
|response to auditory stimulus|
|cell volume homeostasis|
|regulation of long-term neuronal synaptic plasticity|
|positive regulation of excitatory postsynaptic potential|
|dendritic spine development|
|postsynaptic membrane organization|
|dendritic spine organization|
|positive regulation of synaptic transmission, glutamatergic|
|brain morphogenesis|
|ionotropic glutamate receptor binding|
|positive regulation of signaling receptor activity|
|modulation of excitatory postsynaptic potential|
|neuron projection organization|
|neuromuscular junction development|
|regulation of dendritic spine morphogenesis|
|positive regulation of dendritic spine development|
|regulation of long-term synaptic potentiation|
|receptor clustering|
|long-term synaptic potentiation|
|forebrain neuron differentiation|
|social behavior|
|intraspecies interaction between organisms|
|regulation of neuronal synaptic plasticity|
|ciliary membrane|
|protein self-association|
|dendrite morphogenesis|
|scaffold protein binding|
|extrinsic component of cytoplasmic side of plasma membrane|
|positive regulation of nervous system process|
|regulation of glutamate receptor signaling pathway|
|forebrain generation of neurons|
|multi-organism behavior|
|positive regulation of cation channel activity|
|regulation of synaptic transmission, glutamatergic|
|regulation of dendritic spine development|
|positive regulation of dendrite development|
|regulation of neurotransmitter receptor activity|
|localization within membrane|
|postsynapse organization|
|regulation of dendrite morphogenesis|
|regulation of actin filament bundle assembly|
|synapse assembly|
|regulation of postsynapse organization|
|dendrite development|
|positive regulation of ion transmembrane transporter activity|
|positive regulation of transporter activity|
|memory|
|SH3 domain binding|
|negative regulation of supramolecular fiber organization|
|regulation of nervous system process|
|negative regulation of cytoskeleton organization|
|positive regulation of cation transmembrane transport|
|adult behavior|
|learning|
|dendritic spine|
|regulation of dendrite development|
|positive regulation of synaptic transmission|
|positive regulation of ion transmembrane transport|
|regulation of cation channel activity|
|regulation of signaling receptor activity|
|central nervous system neuron differentiation|
|regulation of cell size|
|protein C-terminus binding|
|regulation of synaptic plasticity|
|postsynaptic membrane|
|positive regulation of transmembrane transport|
|response to mechanical stimulus|
|regulation of synapse organization|
|regulation of synapse structure or activity|
|postsynaptic density|
|telencephalon development|
|regulation of ion transmembrane transporter activity|
|learning or memory|
|axon guidance|
|regulation of actin filament organization|
|neuron projection guidance|
|regulation of transmembrane transporter activity|
|actin binding|
|synapse organization|
|positive regulation of ion transport|
|regulation of transporter activity|
|positive regulation of neuron projection development|
|cognition|
|regulation of cell morphogenesis involved in differentiation|
|neuron projection|
|regulation of cation transmembrane transport|
|regulation of actin cytoskeleton organization|
|regulation of supramolecular fiber organization|
|positive regulation of neuron differentiation|
|MAPK cascade|
|axonogenesis|
|negative regulation of organelle organization|
|regulation of cellular component size|
|positive regulation of cell projection organization|
|forebrain development|
|regulation of actin filament-based process|
|developmental growth|
|growth|
|signal transduction by protein phosphorylation|
|axon development|
|dendrite|
|regulation of membrane potential|
|cell morphogenesis involved in neuron differentiation|
|modulation of chemical synaptic transmission|
|regulation of trans-synaptic signaling|
|positive regulation of neurogenesis|
|regulation of ion transmembrane transport|
|neuron projection morphogenesis|
|protein localization to membrane|
|plasma membrane bounded cell projection morphogenesis|
|regulation of cell morphogenesis|
|cell projection morphogenesis|
|regulation of neuron projection development|
|regulation of anatomical structure size|
|cell part morphogenesis|
|positive regulation of nervous system development|
|regulation of cytoskeleton organization|
|positive regulation of cell development|
|cell junction|
|chemotaxis|
|taxis|
|cell morphogenesis involved in differentiation|
|regulation of transmembrane transport|
|behavior|
|regulation of system process|
|regulation of neuron differentiation|
|neuron projection development|
|regulation of plasma membrane bounded cell projection organization|
|regulation of ion transport|
|negative regulation of cellular component organization|
|regulation of cell projection organization|
|cell morphogenesis|
|brain development|
|organelle assembly|
|head development|
|neuron development|
|regulation of neurogenesis|
|cellular component morphogenesis|
|zinc ion binding|
|membrane organization|
|cellular homeostasis|
|regulation of nervous system development|
|regulation of cell development|
|animal organ morphogenesis|
|regulation of cellular component biogenesis|
|positive regulation of cell differentiation|
|protein phosphorylation|
|central nervous system development|
|positive regulation of transport|
|neuron differentiation|
|regulation of anatomical structure morphogenesis|
|plasma membrane bounded cell projection organization|
|response to abiotic stimulus|
|cell projection organization|
|positive regulation of cellular component organization|
|phosphorylation|
|regulation of organelle organization|
|locomotion|
|positive regulation of developmental process|
|nervous system process|
|generation of neurons|
|movement of cell or subcellular component|
|cellular protein localization|
|cellular macromolecule localization|
|neurogenesis|
|homeostatic process|
|cell development|
|positive regulation of signal transduction|
|intracellular signal transduction|
|positive regulation of multicellular organismal process|
|positive regulation of molecular function|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of transport|
|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: N/A
^Tissue^Fraction Of Cell Lines Where Essential^
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 2570
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.71 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SHANK3 Expression in NALM6 Cells: -0.71'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>