SHANK2

From Wikipedia, the free encyclopedia

SH3 and multiple ankyrin repeat domains 2

Identifiers

SHANK2; CORTBP1; CTTNBP1; ProSAP1; SHANK; SPANK-3

External IDs

OMIM: 603290 MGI: 2671987 HomoloGene: 83270

Gene ontology
Molecular Function:	• protein binding • GKAP/Homer scaffold activity
Cellular Component:	• cellular_component
Biological Process:	• intracellular signaling cascade

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_012309 (mRNA)
NP_036441 (protein)

XM_001002370 (mRNA)
XP_001002370 (protein)

Location

Chr 11: 69.99 - 70.54 Mb

Chr 7: 143.99 - 144.23 Mb

Pubmed search

[1]

[2]

SH3 and multiple ankyrin repeat domains 2, also known as SHANK2, is a human gene.^[1]

This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density (PSD). Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, an SH3 domain, a PSD-95/Dlg/ZO-1 domain, a sterile alpha motif domain, and a proline-rich region. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the PSDs of adult and developing brain. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature has not been determined.^[1]

[edit] References

^ ^a ^b Entrez Gene: SHANK2 SH3 and multiple ankyrin repeat domains 2.

[edit] Further reading

Sheng M, Kim E (2000). "The Shank family of scaffold proteins.". J. Cell. Sci. 113 ( Pt 11): 1851–6. PMID 10806096.
Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. PMID 9110174.
Du Y, Weed SA, Xiong WC, et al. (1998). "Identification of a novel cortactin SH3 domain-binding protein and its localization to growth cones of cultured neurons.". Mol. Cell. Biol. 18 (10): 5838–51. PMID 9742101.
Zitzer H, Richter D, Kreienkamp HJ (1999). "Agonist-dependent interaction of the rat somatostatin receptor subtype 2 with cortactin-binding protein 1.". J. Biol. Chem. 274 (26): 18153–6. PMID 10373412.
Tu JC, Xiao B, Naisbitt S, et al. (1999). "Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins.". Neuron 23 (3): 583–92. PMID 10433269.
Kikuno R, Nagase T, Ishikawa K, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 6 (3): 197–205. PMID 10470851.
Lim S, Naisbitt S, Yoon J, et al. (1999). "Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development.". J. Biol. Chem. 274 (41): 29510–8. PMID 10506216.
Boeckers TM, Winter C, Smalla KH, et al. (1999). "Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family.". Biochem. Biophys. Res. Commun. 264 (1): 247–52. doi:10.1006/bbrc.1999.1489. PMID 10527873.
Kreienkamp HJ, Zitzer H, Gundelfinger ED, et al. (2000). "The calcium-independent receptor for alpha-latrotoxin from human and rodent brains interacts with members of the ProSAP/SSTRIP/Shank family of multidomain proteins.". J. Biol. Chem. 275 (42): 32387–90. doi:10.1074/jbc.C000490200. PMID 10964907.
Kreienkamp HJ, Zitzer H, Richter D (2001). "Identification of proteins interacting with the rat somatostatin receptor subtype 2.". J. Physiol. Paris 94 (3-4): 193–8. PMID 11087996.
Okamoto PM, Gamby C, Wells D, et al. (2002). "Dynamin isoform-specific interaction with the shank/ProSAP scaffolding proteins of the postsynaptic density and actin cytoskeleton.". J. Biol. Chem. 276 (51): 48458–65. doi:10.1074/jbc.M104927200. PMID 11583995.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Soltau M, Richter D, Kreienkamp HJ (2003). "The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42.". Mol. Cell. Neurosci. 21 (4): 575–83. PMID 12504591.
Park E, Na M, Choi J, et al. (2003). "The Shank family of postsynaptic density proteins interacts with and promotes synaptic accumulation of the beta PIX guanine nucleotide exchange factor for Rac1 and Cdc42.". J. Biol. Chem. 278 (21): 19220–9. doi:10.1074/jbc.M301052200. PMID 12626503.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Han W, Kim KH, Jo MJ, et al. (2006). "Shank2 associates with and regulates Na+/H+ exchanger 3.". J. Biol. Chem. 281 (3): 1461–9. doi:10.1074/jbc.M509786200. PMID 16293618.
Taylor TD, Noguchi H, Totoki Y, et al. (2006). "Human chromosome 11 DNA sequence and analysis including novel gene identification.". Nature 440 (7083): 497–500. doi:10.1038/nature04632. PMID 16554811.