Property Summary

NCBI Gene PubMed Count 36
PubMed Score 63.68
PubTator Score 655.34

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (23)

Disease log2 FC p
malignant mesothelioma -1.800 5.9e-07
astrocytoma -2.300 4.9e-03
oligodendroglioma -2.000 8.0e-15
glioblastoma -4.700 2.6e-08
posterior fossa group A ependymoma -3.600 1.2e-12
medulloblastoma -3.700 5.4e-07
atypical teratoid / rhabdoid tumor -4.900 2.2e-12
medulloblastoma, large-cell -4.800 7.3e-06
primitive neuroectodermal tumor -2.400 3.7e-03
non-small cell lung cancer -1.382 2.5e-17
intraductal papillary-mucinous adenoma (... 1.100 9.8e-03
lung cancer -2.100 1.0e-04
interstitial cystitis -2.400 7.2e-06
pediatric high grade glioma -4.000 2.0e-08
pilocytic astrocytoma -4.800 3.9e-13
severe Alzheimer's disease -1.036 2.7e-02
lung carcinoma -1.700 2.6e-22
Pick disease -1.200 3.1e-02
Breast cancer -2.100 1.4e-09
ovarian cancer -2.900 1.3e-06
pituitary cancer -1.800 1.9e-03
chronic rhinosinusitis -1.198 3.5e-02
cystic fibrosis and chronic rhinosinusit... -1.123 4.7e-02

Protein-protein Interaction (10)

Gene RIF (12)

PMID Text
25560758 variants in the SHANK2 gene in a schizophrenia patient cohort
24811177 Knockdown of endogenous Shank2E or overexpression of a dominant-negative Shank2E mutant inhibited the glucocorticoid-mediated increase in CFTR.
24751538 syndapin I functions reflected direct, SH3 domain-mediated associations and functional interactions with ProSAP1/Shank2.
23468870 Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.
22699619 deletion of ProSAP1/Shank2 results in an early, brain-region-specific upregulation of ionotropic glutamate receptors at the synapse and increased levels of ProSAP2/Shank3
22346768 we confirmed that de novo SHANK2 deletions are present in patients with ASD and showed that several SHANK2 variants reduce the number of synapses in vitro
21994763 dominant negative effect translates into dose-dependent altered cognitive behavior of SHANK2-R462X-expressing mice, with an impact on the penetrance of ASD
20531469 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20473310 Observational study of gene-disease association. (HuGE Navigator)
20473310 we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation
20080968 betaPix up-regulates NHE3 membrane expression and activity by Shank2-mediated protein-protein interaction and by activating Rho GTPases in the apical regions of epithelial cells
16293618 Shank2 increased the membrane expression and basal activity of NHE3 and attenuated the cAMP-dependent inhibition of NHE3 activity.

AA Sequence

MKSLLNAFTKKEVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTATSHRSLSPQL      1 - 70
LQQMPSKPEGAAKTIGSYVPGPRSRSPSLNRLGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPK     71 - 140
RKLYSAVPGRLFVAVKPYQPQVDGEIPLHRGDRVKVLSIGEGGFWEGSARGHIGWFPAECVEEVQCKPRD    141 - 210
SQAETRADRSKKLFRHYTVGSYDSFDTSSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAF    211 - 280
PALQYLESVDEGGVAWQAGLRTGDFLIEVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTA    281 - 350
RKKAPPPPKRAPTTALTLRSKSMTSELEELVDKASVRKKKDKPEEIVPASKPSRAAENMAVEPRVATIKQ    351 - 420
RPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIPRGTMRRQKSIDSRIFLSGITEEERQFLAP    421 - 490
PMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGTIKPAFNQNSAAKVSPATRSD    491 - 560
TVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARR    561 - 630
KGMLVKQSNVEDSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFA    631 - 700
AAIAGAVRDREKRLEARRNSPAFLSTDLGDEDVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSAT    701 - 770
PREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASSGTAGPGNYVHPLTGRLLDPSSPLALA    771 - 840
LSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETENKYETDLGRD    841 - 910
RKGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGAL    911 - 980
QISAAPEPTTVPGRTIVAVGSMEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAA    981 - 1050
SVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSKKPASLSNCLPASFLPPPESFDAVADSGIEEVDSRSS   1051 - 1120
SDHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMKPIIHKSNALYQDALVE   1121 - 1190
EDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKL   1191 - 1260
AKPGEGLDSPMGAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPS   1261 - 1330
PVVSPTEMNKETLPAPLSAATASPSPALSDVFSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFT   1331 - 1400
TKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPNLQKEDLIDLGVTRVGHRMNIERALKQLLDR   1401 - 1470
//

Text Mined References (38)

PMID Year Title
25560758 2015 Identification and functional characterization of rare SHANK2 variants in schizophrenia.
24811177 2014 Serum- and glucocorticoid-induced protein kinase 1 (SGK1) increases the cystic fibrosis transmembrane conductance regulator (CFTR) in airway epithelial cells by phosphorylating Shank2E protein.
24751538 2014 ProSAP1 and membrane nanodomain-associated syndapin I promote postsynapse formation and function.
24124131 2014 The emerging role of SHANK genes in neuropsychiatric disorders.
23468870 2013 Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.
23432519 A genome-wide association study of recipient genotype and medium-term kidney allograft function.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23149075 2013 Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.
22699620 2012 Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function.
22699619 2012 Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2.
22346768 2012 Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
21994763 2012 Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20531469 2010 Functional impact of global rare copy number variation in autism spectrum disorders.
20473310 2010 Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
20080968 2010 BetaPix up-regulates Na+/H+ exchanger 3 through a Shank2-mediated protein-protein interaction.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17244609 2007 Dynamic regulation of cystic fibrosis transmembrane conductance regulator by competitive interactions of molecular adaptors.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16293618 2006 Shank2 associates with and regulates Na+/H+ exchanger 3.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12626503 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.
12504591 2002 The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11583995 2001 Dynamin isoform-specific interaction with the shank/ProSAP scaffolding proteins of the postsynaptic density and actin cytoskeleton.
11087996 Identification of proteins interacting with the rat somatostatin receptor subtype 2.
10964907 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.
10806096 2000 The Shank family of scaffold proteins.
10527873 1999 Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family.
10506216 1999 Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development.
10470851 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.
10433269 1999 Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins.
10373412 1999 Agonist-dependent interaction of the rat somatostatin receptor subtype 2 with cortactin-binding protein 1.
9742101 1998 Identification of a novel cortactin SH3 domain-binding protein and its localization to growth cones of cultured neurons.
9110174 1997 Large-scale concatenation cDNA sequencing.
8619474 1996 A "double adaptor" method for improved shotgun library construction.