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SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3)

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PROSAP2; PSAP2; SPANK-2; Proline Rich Synapse Associated Protein 2; Shank Postsynaptic Density Protein

SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3)
CCC K075
HGNC 14294
MGI 1930016
PubMed 21606927
RGD 69264
UniProt Q9BYB0
Wiki SHANK3
SHANK3 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 are a major causitive factor in the neurological symptoms of 22q13.3 deletion syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) CLIA Kit Customized Service Offer
n/a ELISA Kit for SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) CLIA Kit Customized Service Offer
n/a ELISA Kit for SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) CLIA Kit Customized Service Offer
n/a ELISA Kit for SH3 And Multiple Ankyrin Repeat Domains Protein 3 (SHANK3) ELISA Kit Customized Service Offer
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  2. "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping."DNA Res. 8:1-9(2001) [PubMed] [Europe PMC] [Abstract]
  3. "Phosphoproteome of resting human platelets."J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]
  4. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  5. "Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders."Hum. Mol. Genet. 23:1563-1578(2014) [PubMed] [Europe PMC] [Abstract]
  6. "Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome."Am. J. Hum. Genet. 69:261-268(2001) [PubMed] [Europe PMC] [Abstract]
  7. "The Shank family of scaffold proteins."J. Cell Sci. 113:1851-1856(2000) [PubMed] [Europe PMC] [Abstract]
  8. "The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42."Mol. Cell. Neurosci. 21:575-583(2002) [PubMed] [Europe PMC] [Abstract]
  9. "Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion."Eur. J. Med. Genet. 55:625-629(2012) [PubMed] [Europe PMC] [Abstract]
  10. "Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency."Mol. Autism 4:18-18(2013) [PubMed] [Europe PMC] [Abstract]
  11. "SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties."Nature 503:72-77(2013) [PubMed] [Europe PMC] [Abstract]
  12. "SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients."Nature 503:267-271(2013) [PubMed] [Europe PMC] [Abstract]
  13. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  14. "Contribution of SHANK3 mutations to autism spectrum disorder."Am. J. Hum. Genet. 81:1289-1297(2007) [PubMed] [Europe PMC] [Abstract]
  15. "Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders." Nat. Genet. 39:25-27(2007) [PubMed] [Europe PMC] [Abstract]
  16. "De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia." Proc. Natl. Acad. Sci. U.S.A. 107:7863-7868(2010) [PubMed] [Europe PMC] [Abstract]
  17. "Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders."Eur. J. Hum. Genet. 21:310-316(2013) [PubMed] [Europe PMC] [Abstract]