Property Summary

NCBI Gene PubMed Count 84
Grant Count 86
R01 Count 27
Funding $15,343,901.58
PubMed Score 158.76
PubTator Score 138.25

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9BYB0 D7UT47 Q8TET3 Shank3
Symbols PSAP2
SCZD15
PROSAP2
SPANK-2
DEL22q13.3

Gene

Gene RIF (44)

PMID Text
26966193 these data suggest that SHANK3 mutations predispose to autism, at least partially, by inducing an Ih channelopathy that may be amenable to pharmacological intervention.
26572867 post-transcriptional regulation of SHANK3 expression by three microRNAs (miRNAs), miR-7, miR-34a, and miR-504, is reported.
25931020 De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
25882257 miR-7 binds to 3-prime untranslated regions of SHANK3 mRNA and causes the alteration of neuronal morphology and function, potentially playing a crucial role in the pathophysiological process of schizophrenia
25646853 a mutation in SHANK3 that underscores its relevance in Autism Spectrum Disorder.
25048004 This study identified and confirmed SHANK3 protein changes within the postsynaptic density in schizophrenia
24700646 because the deletions in our patients do not involve the SHANK3 gene, we posit the existence of a new contiguous gene syndrome proximal to the smallest terminal deletions in the 22q13 region.
24398551 our results suggested that this commonly genetic variant in SHANK3 gene strikingly decreased the risk of ism spectrum disorder in China.
24382453 This study demonistrated that the uncoupling of ProSAP2/Shank3 nuclear shuttling from synaptic activity may represent a molecular mechanism that contributes to the pathology of SCZ in patients with mutations in ProSAP2/Shank3.
24186872 The ability to alter the epigenetic modification and expression of SHANK3 by environmental factors suggests that SHANK3 may be a valuable biomarker for dissecting the role of gene and environment interaction in the etiology of ASD.
More...

AA Sequence

MDGPGASAVVVRVGIPDLQQTKCLRLDPAAPVWAAKQRVLCALNHSLQDALNYGLFQPPSRGRAGKFLDE      1 - 70
ERLLQEYPPNLDTPLPYLEFRYKRRVYAQNLIDDKQFAKLHTKANLKKFMDYVQLHSTDKVARLLDKGLD     71 - 140
PNFHDPDSGECPLSLAAQLDNATDLLKVLKNGGAHLDFRTRDGLTAVHCATRQRNAAALTTLLDLGASPD    141 - 210
YKDSRGLTPLYHSALGGGDALCCELLLHDHAQLGITDENGWQEIHQACRFGHVQHLEHLLFYGADMGAQN    211 - 280
ASGNTALHICALYNQESCARVLLFRGANRDVRNYNSQTAFQVAIIAGNFELAEVIKTHKDSDVVPFRETP    281 - 350
SYAKRRRLAGPSGLASPRPLQRSASDINLKGEAQPAASPGPSLRSLPHQLLLQRLQEEKDRDRDADQESN    351 - 420
ISGPLAGRAGQSKISPSGPGGPGPAPGPGPAPPAPPAPPPRGPKRKLYSAVPGRKFIAVKAHSPQGEGEI    421 - 490
PLHRGEAVKVLSIGEGGFWEGTVKGRTGWFPADCVEEVQMRQHDTRPETREDRTKRLFRHYTVGSYDSLT    491 - 560
SHSDYVIDDKVAVLQKRDHEGFGFVLRGAKAETPIEEFTPTPAFPALQYLESVDVEGVAWRAGLRTGDFL    561 - 630
IEVNGVNVVKVGHKQVVALIRQGGNRLVMKVVSVTRKPEEDGARRRAPPPPKRAPSTTLTLRSKSMTAEL    631 - 700
EELASIRRRKGEKLDEMLAAAAEPTLRPDIADADSRAATVKQRPTSRRITPAEISSLFERQGLPGPEKLP    701 - 770
GSLRKGIPRTKSVGEDEKLASLLEGRFPRSTSMQDPVREGRGIPPPPQTAPPPPPAPYYFDSGPPPAFSP    771 - 840
PPPPGRAYDTVRSSFKPGLEARLGAGAAGLYEPGAALGPLPYPERQKRARSMIILQDSAPESGDAPRPPP    841 - 910
AATPPERPKRRPRPPGPDSPYANLGAFSASLFAPSKPQRRKSPLVKQLQVEDAQERAALAVGSPGPGGGS    911 - 980
FAREPSPTHRGPRPGGLDYGAGDGPGLAFGGPGPAKDRRLEERRRSTVFLSVGAIEGSAPGADLPSLQPS    981 - 1050
RSIDERLLGTGPTAGRDLLLPSPVSALKPLVSGPSLGPSGSTFIHPLTGKPLDPSSPLALALAARERALA   1051 - 1120
SQAPSRSPTPVHSPDADRPGPLFVDVQARDPERGSLASPAFSPRSPAWIPVPARREAEKVPREERKSPED   1121 - 1190
KKSMILSVLDTSLQRPAGLIVVHATSNGQEPSRLGGAEEERPGTPELAPAPMQSAAVAEPLPSPRAQPPG   1191 - 1260
GTPADAGPGQGSSEEEPELVFAVNLPPAQLSSSDEETREELARIGLVPPPEEFANGVLLATPLAGPGPSP   1261 - 1330
TTVPSPASGKPSSEPPPAPESAADSGVEEADTRSSSDPHLETTSTISTVSSMSTLSSESGELTDTHTSFA   1331 - 1400
DGHTFLLEKPPVPPKPKLKSPLGKGPVTFRDPLLKQSSDSELMAQQHHAASAGLASAAGPARPRYLFQRR   1401 - 1470
SKLWGDPVESRGLPGPEDDKPTVISELSSRLQQLNKDTRSLGEEPVGGLGSLLDPAKKSPIAAARLFSSL   1471 - 1540
GELSSISAQRSPGGPGGGASYSVRPSGRYPVARRAPSPVKPASLERVEGLGAGAGGAGRPFGLTPPTILK   1541 - 1610
SSSLSIPHEPKEVRFVVRSVSARSRSPSPSPLPSPASGPGPGAPGPRRPFQQKPLQLWSKFDVGDWLESI   1611 - 1680
HLGEHRDRFEDHEIEGAHLPALTKDDFVELGVTRVGHRMNIERALRQLDGS                      1681 - 1731
//

Text Mined References (89)

PMID Year Title
26966193 2016 Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons.
26572867 2015 Post-transcriptional regulation of SHANK3 expression by microRNAs related to multiple neuropsychiatric disorders.
25931020 2015 De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
25882257 2015 MicroRNA-7/Shank3 axis involved in schizophrenia pathogenesis.
25646853 2015 Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.
25048004 2015 Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia.
24700646 2014 Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.
24398551 2014 A commonly carried genetic variant, rs9616915, in SHANK3 gene is associated with a reduced risk of autism spectrum disorder: replication in a Chinese population.
24382453 2014 The PSD protein ProSAP2/Shank3 displays synapto-nuclear shuttling which is deregulated in a schizophrenia-associated mutation.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
More...