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Gene Review

SHANK3  -  SH3 and multiple ankyrin repeat domains 3

Homo sapiens

Synonyms: DEL22q13.3, KIAA1650, PROSAP2, PSAP2, ProSAP2, ...
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Disease relevance of SHANK3

  • This ProSAP2/Shank3 haploinsufficiency may cause a syndrome that is characterized by severe expressive language delay, mild mental retardation and minor facial dysmorphisms [1].
  • The finding that ProSAP2 is included in the critical region of the 22q deletion syndrome and that our proband displays all signs and symptoms of the syndrome suggests that ProSAP2 haploinsufficiency is the cause of the 22q13.3 deletion syndrome [2].

Psychiatry related information on SHANK3


High impact information on SHANK3


Biological context of SHANK3

  • The molecular structure of SHANK3 was further characterised [7].
  • Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins [8].
  • This study supports this candidate gene by identifying a phenotypically normal r(22) individual whose ring chromosome does not disrupt SHANK3 [9].
  • Loss of the SHANK3/PROSAP2 gene has been proposed to be responsible for the main neurological developmental deficits observed in 22q13 monosomies [9].

Disease relevant mouse models of SHANK3

  • Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism [10].

Anatomical context of SHANK3

  • ProSAP2 is a good candidate for this syndrome, because it is preferentially expressed in the cerebral cortex and the cerebellum and encodes a scaffold protein involved in the postsynaptic density of excitatory synapses [2].




  1. ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease. Boeckers, T.M., Bockmann, J., Kreutz, M.R., Gundelfinger, E.D. J. Neurochem. (2002) [Pubmed]
  2. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Bonaglia, M.C., Giorda, R., Borgatti, R., Felisari, G., Gagliardi, C., Selicorni, A., Zuffardi, O. Am. J. Hum. Genet. (2001) [Pubmed]
  3. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Durand, C.M., Betancur, C., Boeckers, T.M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I.C., Anckars??ter, H., Sponheim, E., Goubran-Botros, H., Delorme, R., Chabane, N., Mouren-Simeoni, M.C., de Mas, P., Bieth, E., Rog??, B., H??ron, D., Burglen, L., Gillberg, C., Leboyer, M., Bourgeron, T. Nat. Genet. (2007) [Pubmed]
  4. Epigenome analyses using BAC microarrays identify evolutionary conservation of tissue-specific methylation of SHANK3. Ching, T.T., Maunakea, A.K., Jun, P., Hong, C., Zardo, G., Pinkel, D., Albertson, D.G., Fridlyand, J., Mao, J.H., Shchors, K., Weiss, W.A., Costello, J.F. Nat. Genet. (2005) [Pubmed]
  5. Analysis of synaptic ultrastructure without fixative using high-pressure freezing and tomography. Rostaing, P., Real, E., Siksou, L., Lechaire, J.P., Boudier, T., Boeckers, T.M., Gertler, F., Gundelfinger, E.D., Triller, A., Marty, S. Eur. J. Neurosci. (2006) [Pubmed]
  6. Postsynaptic shank antagonizes dendrite branching induced by the leucine-rich repeat protein Densin-180. Quitsch, A., Berhörster, K., Liew, C.W., Richter, D., Kreienkamp, H.J. J. Neurosci. (2005) [Pubmed]
  7. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. Wilson, H.L., Wong, A.C., Shaw, S.R., Tse, W.Y., Stapleton, G.A., Phelan, M.C., Hu, S., Marshall, J., McDermid, H.E. J. Med. Genet. (2003) [Pubmed]
  8. Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins. Tu, J.C., Xiao, B., Naisbitt, S., Yuan, J.P., Petralia, R.S., Brakeman, P., Doan, A., Aakalu, V.K., Lanahan, A.A., Sheng, M., Worley, P.F. Neuron. (1999) [Pubmed]
  9. Molecular and phenotypic characterization of ring chromosome 22. Jeffries, A.R., Curran, S., Elmslie, F., Sharma, A., Wenger, S., Hummel, M., Powell, J. Am. J. Med. Genet. A (2005) [Pubmed]
  10. Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism. Bangash, M.A., Park, J.M., Melnikova, T., Wang, D., Jeon, S.K., Lee, D., Syeda, S., Kim, J., Kouser, M., Schwartz, J., Cui, Y., Zhao, X., Speed, H.E., Kee, S.E., Tu, J.C., Hu, J.H., Petralia, R.S., Linden, D.J., Powell, C.M., Savonenko, A., Xiao, B., Worley, P.F. Cell. (2011) [Pubmed]
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