Tbio SHANK3 SH3 and multiple ankyrin repeat domains protein 3

Protein Summary

Description

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. 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]

Uniprot Accession IDs

• Q9BYB0
• D7UT47
• Q8TET3
• Shank3

Gene Name

• SHANK3

Ensembl ID

• ENST00000635818
• ENSP00000490818
• ENSG00000283243
• ENST00000645837
• ENSP00000495774

Symbol

• KIAA1650
• PROSAP2
• PSAP2
• PSAP2
• SCZD15
• PROSAP2
• SPANK-2
• DEL22q13.3

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0.97
protein domain	0.97
cellular component	0.77
molecular function	0.76
histone modification site profile	0.72

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 0   (req: < 5)

Gene RIFs: 85   (req: <= 3)

Antibodies: 0   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 0   (req: >= 5)

Gene RIFs: 85   (req: > 3)

Antibodies: 0   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 41

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0