Rabbit Anti-SHANK3 Recombinant Antibody (D5K6R) (CBMAB-CP2420-LY)

SH3 And Multiple Ankyrin Repeat Domains 3

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]

SH3 And Multiple Ankyrin Repeat Domains 3; Proline Rich Synapse Associated Protein 2; Shank Postsynaptic Density Protein; PROSAP2; PSAP2; SH3 And Multiple Ankyrin Repeat Domains Protein 3; Proline-Rich Synapse-Associated Protein 2;

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.

Biological Process adult behaviorManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process AMPA glutamate receptor clusteringBy SimilarityISS:BHF-UCL
Biological Process brain morphogenesisISS:BHF-UCL
Biological Process dendritic spine morphogenesisISS:BHF-UCL
Biological Process guanylate kinase-associated protein clusteringISS:BHF-UCL
Biological Process learningManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process MAPK cascadeISS:BHF-UCL
Biological Process memoryISS:BHF-UCL
Biological Process negative regulation of actin filament bundle assemblyISS:BHF-UCL
Biological Process negative regulation of cell volumeISS:BHF-UCL
Biological Process NMDA glutamate receptor clusteringISS:BHF-UCL
Biological Process positive regulation of AMPA receptor activityISS:BHF-UCL
Biological Process positive regulation of dendritic spine developmentBy SimilarityISS:BHF-UCL
Biological Process positive regulation of excitatory postsynaptic potentialBy SimilarityISS:BHF-UCL
Biological Process positive regulation of glutamate receptor signaling pathwayBy SimilarityISS:BHF-UCL
Biological Process positive regulation of long-term neuronal synaptic plasticityISS:BHF-UCL
Biological Process positive regulation of long-term synaptic potentiationISS:BHF-UCL
Biological Process positive regulation of synapse structural plasticityISS:BHF-UCL
Biological Process positive regulation of synaptic transmission, glutamatergicBy SimilarityISS:BHF-UCL
Biological Process postsynaptic density assemblyISS:BHF-UCL
Biological Process regulation of dendritic spine morphogenesisBy SimilarityISS:BHF-UCL
Biological Process regulation of long-term synaptic depressionBy SimilarityISS:BHF-UCL
Biological Process regulation of long-term synaptic potentiationISS:BHF-UCL
Biological Process social behaviorManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process striatal medium spiny neuron differentiationISS:BHF-UCL
Biological Process synapse assemblyISS:BHF-UCL
Biological Process vocal learningManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process vocalization behaviorManual Assertion Based On ExperimentIMP:BHF-UCL

Cytoplasm
Postsynaptic density
Cell projection, dendritic spine
In neuronal cells, extends into the region subjacent to the postsynaptic density (PSD).

Phelan-McDermid syndrome (PHMDS):
A developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior, and minor dysmorphic features.
Schizophrenia 15 (SCZD15):
A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.