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"name": {
"name": "FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in SH3 and multiple ankyrin repeat domains protein 2 (SHANK2)",
"short": "FERM_F0_SHANK2"
},
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{
"text": "<p>SHANK2, also termed cortactin-binding protein 1 (CortBP1), or proline-rich synapse-associated protein 1, is a postsynaptic density (PSD)-associated scaffolding proteins at the excitatory synapse that interconnects neurotransmitter receptors and cell adhesion molecules by direct and indirect interactions with numerous other PSD-associated proteins. It is strongly expressed in the cerebellum. Moreover, SHANK2 acts as a component of the albumin endocytic pathway in podocytes, and regulates renal albumin endocytosis. It also associates with and regulates Na+/H+ exchanger 3 (NHE3) and is involved in the fine regulation of transepithelial salt and water transport through affecting NHE3 expression and activity. Mutations in the SHANK2 synaptic scaffolding gene may lead to autism spectrum disorder and mental retardation. SHANK2 contains an N-terminal F0 domain of FERM (Band 4.1, ezrin, radixin, moesin), six ankyrin (ANK) repeats, one SH3 (Src homology 3) domain, one PDZ (PSD-95, Dlg, and ZO-1/2, also termed DHR or GLGF) domain, and a C-terminal SAM (sterile alpha motif) domain. This family corresponds to the F0 domain that adopts a ubiquitin-like fold. [[cite:PUB00086096], [cite:PUB00139015], [cite:PUB00033560], [cite:PUB00139049], [cite:PUB00139048], [cite:PUB00127557], [cite:PUB00139024], [cite:PUB00139023], [cite:PUB00139022], [cite:PUB00139021], [cite:PUB00139020], [cite:PUB00139019], [cite:PUB00139018], [cite:PUB00139017], [cite:PUB00068275], [cite:PUB00130197], [cite:PUB00139016]]</p>",
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"PUB00139049": {
"PMID": 10506216,
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"volume": "274",
"issue": "41",
"year": 1999,
"title": "Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development.",
"URL": null,
"raw_pages": "29510-8",
"medline_journal": "J Biol Chem",
"ISO_journal": "J Biol Chem",
"authors": [
"Lim S",
"Naisbitt S",
"Yoon J",
"Hwang JI",
"Suh PG",
"Sheng M",
"Kim E."
],
"DOI_URL": null
},
"PUB00139017": {
"PMID": 22699620,
"ISBN": null,
"volume": "486",
"issue": "7402",
"year": 2012,
"title": "Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function.",
"URL": null,
"raw_pages": "261-5",
"medline_journal": "Nature",
"ISO_journal": "Nature",
"authors": [
"Won H",
"Lee HR",
"Gee HY",
"Mah W",
"Kim JI",
"Lee J",
"Ha S",
"Chung C",
"Jung ES",
"Cho YS",
"Park SG",
"Lee JS",
"Lee K",
"Kim D",
"Bae YC",
"Kaang BK",
"Lee MG",
"Kim E."
],
"DOI_URL": null
},
"PUB00139048": {
"PMID": 11583995,
"ISBN": null,
"volume": "276",
"issue": "51",
"year": 2001,
"title": "Dynamin isoform-specific interaction with the shank/ProSAP scaffolding proteins of the postsynaptic density and actin cytoskeleton.",
"URL": null,
"raw_pages": "48458-65",
"medline_journal": "J Biol Chem",
"ISO_journal": "J Biol Chem",
"authors": [
"Okamoto PM",
"Gamby C",
"Wells D",
"Fallon J",
"Vallee RB."
],
"DOI_URL": null
},
"PUB00127557": {
"PMID": 20473310,
"ISBN": null,
"volume": "42",
"issue": "6",
"year": 2010,
"title": "Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.",
"URL": null,
"raw_pages": "489-91",
"medline_journal": "Nat Genet",
"ISO_journal": "Nat Genet",
"authors": [
"Berkel S",
"Marshall CR",
"Weiss B",
"Howe J",
"Roeth R",
"Moog U",
"Endris V",
"Roberts W",
"Szatmari P",
"Pinto D",
"Bonin M",
"Riess A",
"Engels H",
"Sprengel R",
"Scherer SW",
"Rappold GA."
],
"DOI_URL": null
},
"PUB00033560": {
"PMID": 16293618,
"ISBN": null,
"volume": "281",
"issue": "3",
"year": 2006,
"title": "Shank2 associates with and regulates Na+/H+ exchanger 3.",
"URL": null,
"raw_pages": "1461-9",
"medline_journal": "J Biol Chem",
"ISO_journal": "J. Biol. Chem.",
"authors": [
"Han W",
"Kim KH",
"Jo MJ",
"Lee JH",
"Yang J",
"Doctor RB",
"Moe OW",
"Lee J",
"Kim E",
"Lee MG."
],
"DOI_URL": "http://dx.doi.org/10.1074/jbc.M509786200"
},
"PUB00139020": {
"PMID": 26303658,
"ISBN": null,
"volume": "20",
"issue": "12",
"year": 2015,
"title": "Rare SHANK2 variants in schizophrenia.",
"URL": null,
"raw_pages": "1487-8",
"medline_journal": "Mol Psychiatry",
"ISO_journal": "Mol Psychiatry",
"authors": [
"Peykov S",
"Berkel S",
"Degenhardt F",
"Rietschel M",
"Nothen MM",
"Rappold GA."
],
"DOI_URL": null
},
"PUB00139015": {
"PMID": 27795858,
"ISBN": null,
"volume": "2016",
"issue": null,
"year": 2016,
"title": "Actin-Dependent Alterations of Dendritic Spine Morphology in Shankopathies.",
"URL": null,
"raw_pages": "8051861",
"medline_journal": "Neural Plast",
"ISO_journal": "Neural Plast",
"authors": [
"Sarowar T",
"Grabrucker AM."
],
"DOI_URL": null
},
"PUB00086096": {
"PMID": 10806096,
"ISBN": null,
"volume": "113 ( Pt 11)",
"issue": null,
"year": 2000,
"title": "The Shank family of scaffold proteins.",
"URL": null,
"raw_pages": "1851-6",
"medline_journal": "J Cell Sci",
"ISO_journal": "J. Cell. Sci.",
"authors": [
"Sheng M",
"Kim E."
],
"DOI_URL": null
},
"PUB00139021": {
"PMID": 26333830,
"ISBN": null,
"volume": "3",
"issue": "9",
"year": 2015,
"title": "Shank2 Regulates Renal Albumin Endocytosis. ",
"URL": null,
"raw_pages": "e12510",
"medline_journal": "Physiol Rep",
"ISO_journal": "Physiol Rep",
"authors": [
"Dobrinskikh E",
"Lewis L",
"Brian Doctor R",
"Okamura K",
"Lee MG",
"Altmann C",
"Faubel S",
"Kopp JB",
"Blaine J."
],
"DOI_URL": null
},
"PUB00139023": {
"PMID": 27641545,
"ISBN": null,
"volume": "32",
"issue": "5",
"year": 2017,
"title": "Depletion of SHANK2 inhibited the osteo/dentinogenic differentiation potentials of stem cells from apical papilla.",
"URL": null,
"raw_pages": "471-479",
"medline_journal": "Histol Histopathol",
"ISO_journal": "Histol Histopathol",
"authors": [
"Guo L",
"Jin L",
"Du J",
"Zhang C",
"Fan Z",
"Wang S."
],
"DOI_URL": null
},
"PUB00139024": {
"PMID": 27903723,
"ISBN": null,
"volume": "36",
"issue": "48",
"year": 2016,
"title": "Cerebellar Shank2 Regulates Excitatory Synapse Density, Motor Coordination, and Specific Repetitive and Anxiety-Like Behaviors.",
"URL": null,
"raw_pages": "12129-12143",
"medline_journal": "J Neurosci",
"ISO_journal": "J Neurosci",
"authors": [
"Ha S",
"Lee D",
"Cho YS",
"Chung C",
"Yoo YE",
"Kim J",
"Lee J",
"Kim W",
"Kim H",
"Bae YC",
"Tanaka-Yamamoto K",
"Kim E."
],
"DOI_URL": null
},
"PUB00139022": {
"PMID": 27581745,
"ISBN": null,
"volume": "7",
"issue": null,
"year": 2016,
"title": "Dysfunctional cerebellar Purkinje cells contribute to autism-like behaviour in Shank2-deficient mice.",
"URL": null,
"raw_pages": "12627",
"medline_journal": "Nat Commun",
"ISO_journal": "Nat Commun",
"authors": [
"Peter S",
"Ten Brinke MM",
"Stedehouder J",
"Reinelt CM",
"Wu B",
"Zhou H",
"Zhou K",
"Boele HJ",
"Kushner SA",
"Lee MG",
"Schmeisser MJ",
"Boeckers TM",
"Schonewille M",
"Hoebeek FE",
"De Zeeuw CI."
],
"DOI_URL": null
},
"PUB00068275": {
"PMID": 15632121,
"ISBN": null,
"volume": "280",
"issue": "13",
"year": 2005,
"title": "The interaction of phospholipase C-beta3 with Shank2 regulates mGluR-mediated calcium signal.",
"URL": null,
"raw_pages": "12467-73",
"medline_journal": "J Biol Chem",
"ISO_journal": "J. Biol. Chem.",
"authors": [
"Hwang JI",
"Kim HS",
"Lee JR",
"Kim E",
"Ryu SH",
"Suh PG."
],
"DOI_URL": "http://dx.doi.org/10.1074/jbc.M410740200"
},
"PUB00139018": {
"PMID": 24445315,
"ISBN": null,
"volume": "592",
"issue": "8",
"year": 2014,
"title": "Shank2 mutant mice display a hypersecretory response to cholera toxin.",
"URL": null,
"raw_pages": "1809-21",
"medline_journal": "J Physiol",
"ISO_journal": "J Physiol",
"authors": [
"Jung ES",
"Park J",
"Gee HY",
"Jung J",
"Noh SH",
"Lee JS",
"Richter W",
"Namkung W",
"Lee MG."
],
"DOI_URL": null
},
"PUB00139019": {
"PMID": 25560758,
"ISBN": null,
"volume": "20",
"issue": "12",
"year": 2015,
"title": "Identification and functional characterization of rare SHANK2 variants in schizophrenia.",
"URL": null,
"raw_pages": "1489-98",
"medline_journal": "Mol Psychiatry",
"ISO_journal": "Mol Psychiatry",
"authors": [
"Peykov S",
"Berkel S",
"Schoen M",
"Weiss K",
"Degenhardt F",
"Strohmaier J",
"Weiss B",
"Proepper C",
"Schratt G",
"Nothen MM",
"Boeckers TM",
"Rietschel M",
"Rappold GA."
],
"DOI_URL": null
},
"PUB00130197": {
"PMID": 15236236,
"ISBN": null,
"volume": "475",
"issue": "4",
"year": 2004,
"title": "The postsynaptic scaffold proteins ProSAP1/Shank2 and Homer1 are associated with glutamate receptor complexes at rat retinal synapses.",
"URL": null,
"raw_pages": "551-63",
"medline_journal": "J Comp Neurol",
"ISO_journal": "J Comp Neurol",
"authors": [
"Brandstatter JH",
"Dick O",
"Boeckers TM."
],
"DOI_URL": null
},
"PUB00139016": {
"PMID": 14977424,
"ISBN": null,
"volume": "380",
"issue": "Pt 1",
"year": 2004,
"title": "Characterization of an ankyrin repeat-containing Shank2 isoform (Shank2E) in liver epithelial cells.",
"URL": null,
"raw_pages": "181-91",
"medline_journal": "Biochem J",
"ISO_journal": "Biochem J",
"authors": [
"McWilliams RR",
"Gidey E",
"Fouassier L",
"Weed SA",
"Doctor RB."
],
"DOI_URL": null
}
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