SHANK3

From Wikipedia, the free encyclopedia

SH3 and multiple ankyrin repeat domains 3

PDB rendering based on 2f3n.

Available structures: 2f3n, 2f44

Identifiers

Symbol(s)

SHANK3; KIAA1650; PROSAP2; PSAP2; SPANK-2

External IDs

OMIM: 606230 MGI: 1930016 HomoloGene: 75163

Gene ontology
Molecular Function:	• structural constituent of ribosome • peroxidase activity • protein binding
Cellular Component:	• intracellular • ribosome
Biological Process:	• translation • response to oxidative stress

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

XM_037493 (mRNA)
XP_037493 (protein)

XM_001002893 (mRNA)
XP_001002893 (protein)

Location

Chr 22: 49.46 - 49.52 Mb

Chr 15: 89.33 - 89.39 Mb

Pubmed search

[1]

[2]

SH3 and multiple ankyrin repeat domains 3, also known as SHANK3, is a human gene on chromsome 22.^[1]

[edit] References

^ Entrez Gene: SHANK3 SH3 and multiple ankyrin repeat domains 3.

[edit] Further reading

Sheng M, Kim E (2000). "The Shank family of scaffold proteins.". J. Cell. Sci. 113 ( Pt 11): 1851-6. PMID 10806096.
Boeckers TM, Kreutz MR, Winter C, et al. (1999). "Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density.". J. Neurosci. 19 (15): 6506-18. PMID 10414979.
Hirosawa M, Nagase T, Murahashi Y, et al. (2001). "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping.". DNA Res. 8 (1): 1-9. PMID 11258795.
Bonaglia MC, Giorda R, Borgatti R, et al. (2001). "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 (2): 261-8. PMID 11431708.
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.
Wilson HL, Wong AC, Shaw SR, et al. (2003). "Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.". J. Med. Genet. 40 (8): 575-84. PMID 12920066.
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.
Bonaglia MC, Giorda R, Mani E, et al. (2006). "Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.". J. Med. Genet. 43 (10): 822-8. doi:10.1136/jmg.2005.038604. PMID 16284256.
Durand CM, Betancur C, Boeckers TM, et al. (2007). "Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.". Nat. Genet. 39 (1): 25-7. doi:10.1038/ng1933. PMID 17173049.
Moessner R, Marshall CR, Sutcliffe JS, et al. (2007). "Contribution of SHANK3 mutations to autism spectrum disorder.". Am. J. Hum. Genet. 81 (6): 1289-97. doi:10.1086/522590. PMID 17999366.