NP_277052.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
184,667 Da
NCBI Official Full Name
SH3 and multiple ankyrin repeat domains protein 3
NCBI Official Synonym Full Names
SH3 and multiple ankyrin repeat domains 3
NCBI Official Synonym Symbols
PSAP2; SCZD15; PROSAP2; SPANK-2; DEL22q13.3 [Similar Products]
NCBI Protein Information
SH3 and multiple ankyrin repeat domains protein 3; shank postsynaptic density protein; proline rich synapse associated protein 2
UniProt Protein Name
SH3 and multiple ankyrin repeat domains protein 3
UniProt Synonym Protein Names
Proline-rich synapse-associated protein 2; ProSAP2
UniProt Synonym Gene Names
UniProt Entry Name
SHAN3_HUMAN
NCBI Summary for SHANK3
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 Comments for SHANK3
SHANK3: Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that 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. May play a role in the structural and functional organization of the dendritic spine and synaptic junction. A chromosomal aberration involving SHANK3 is found in patients with chromosome 22q13.3 deletion syndrome. Translocation t(12;22)(q24.1;q13.3) with APPL2/DIP13B. Defects in SHANK3 are associated with autism spectrum disorders (ASD). ASD are characterized by impairments in reciprocal social interaction and communication as well as restricted and stereotyped patterns of interest and activities. ASD include forms with moderate to severe cognitive impairment and milder forms with higher cognitive ability (Asperger syndrome). Defects in SHANK3 are the cause of schizophrenia type 15 (SCZD15). SCZD15 is 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. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Adaptor/scaffold
Chromosomal Location of Human Ortholog: 22q13.3
Cellular Component: postsynaptic membrane; neuron projection; cytoplasm; dendritic spine; plasma membrane; cell junction
Molecular Function: protein C-terminus binding; ionotropic glutamate receptor binding; identical protein binding; protein binding; zinc ion binding; GKAP/Homer scaffold activity; actin binding; SH3 domain binding
Biological Process: positive regulation of synapse structural plasticity; negative regulation of actin filament bundle formation; synaptogenesis; striatal medium spiny neuron differentiation; adult behavior; MAPKKK cascade; brain morphogenesis; vocal learning; learning; social behavior; positive regulation of synaptic transmission, glutamatergic; positive regulation of long-term neuronal synaptic plasticity; negative regulation of cell volume; memory
Disease: Schizophrenia 15; Phelan-mcdermid Syndrome
Research Articles on SHANK3
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Products associated with SHANK3 elisa kit
Pathways associated with SHANK3 elisa kit
Diseases associated with SHANK3 elisa kit
Organs/Tissues associated with SHANK3 elisa kit
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