Evidence Detail for SHANK3

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Basic Information Top
Gene Symbol:SHANK3 ( DEL22q13.3,KIAA1650,PROSAP2,PSAP2,SPANK-2 )
Gene Full Name: SH3 and multiple ankyrin repeat domains 3
Band: 22q13.3
Quick LinksEntrez ID:85358; OMIM: 606230; Uniprot ID:F2Z3L0_HUMAN; ENSEMBL ID: ENSG00000251322
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 2 (10) 0 (0) 0 (0) 3 (3) 25 (3)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMChromosome 22q13.3 deletion syndrome (606232)
Description22q13 deletion syndrome (Phelan-McDermid syndrome) is caused by deletions of SHANK3; ASD or autistic features are frequent. SHANK3 mutations have also been reported in individuals with ASD
Reference(s)20186804; 17173049; 18615476; 19736351; 15286229; 17999366; 10735630;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Moessner, 2007_1 human ---ASD genetics: mutation screen
  • Subjects: 400
  • Normal Controls: -
  • Methods: mutation screen
  • Evidence Details: One de novo mutation and two gene deletions were discovered, indicating a contribution of 0.75% in this cohort. One additional SHANK3 deletion was characterized in two ASD-affected siblings from another collection, which brings the total number of published mutations in unrelated ASD-affected families to seven. The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing.
Durand, 2007_1 human bloodASD genetics: mutation screen
  • Subjects: 227
  • Normal Controls: 190
  • Methods: FISH, direct sequencing
  • Evidence Details: A mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders
Gauthier, 2008_1 human ASD genetics: mutation screen
  • Subjects: 427(66 female: 361 male)
  • Normal Controls: 190
  • Methods: mutation screen
  • Evidence Details: We report the identification of two putative causative mutations: one being a de novo deletion at an intronic donor splice site and one missense transmitted from an epileptic father.
Gauthier, 2008_2 human cultured lymphoblastoid cellsASD RNA regulation
  • Subjects: 1
  • Normal Controls: 1
  • Methods: RT-PCR
  • Evidence Details: p.L68P will lead to aberrant splicing of the transcript.
Bozidagi, 2011_1 mouse ---- mouse model
  • Subjects: -
  • Normal Controls: -
  • Methods: qPCR, Immunoblotting, confocal imaging, behavioral analyses
  • Evidence Details: We documented specific deficits in synaptic function and plasticity, along with reduced reciprocal social interactions in Shank3 heterozygous mice. Our results are consistent with altered synaptic development and function in Shank3 haploinsufficiency, highlighting the importance of Shank3 in synaptic function and supporting a link between deficits in synapse function and neurodevelopmental disorders.
Yasuda, 2011_1 human lymphoblastoid cellsASD mRNA expression level
  • Subjects: 35
  • Normal Controls: 35
  • Methods: RT-PCR
  • Evidence Details: The mRNA expression levels of SHANK3 normalized by b-actin or TBP were significantly decreased in the individuals with ASD compared to controls
Kelleher lii, 2012_1 human bloodASD Mutation screen
  • Subjects: 290
  • Normal Controls: 300
  • Methods: direct sequencing
  • Evidence Details: 14 functional rare mutation was found in ASD case, 3 in control
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000015 22 22q13.31-13.33 loss 1 - Denovo CNVs; Sebat, 2007
AutCNV0000159 22 22q13.31-13.33 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0000160 22 22q13.33 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0000277 22 22q13 gain 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000282 22 22q13 loss 1 - Denovo CNVs; Prasad, 2000
AutCNV0000296 22 22q13.3 loss 1 - Denovo CNVs; Goizet, 2000
AutCNV0000385 22 22q13.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000386 22 22q13.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000710 22 22q13.2-qter loss 1 - CNVs Only Present In Patients; Chen, 2011
AutCNV0000724 22 22q13 loss 1 - Denovo CNVs; Bremer, 2011
AutCNV0000831 22 22q13.33 gain 1 - bothparents Pinto, 2010
AutCNV0001468 22 22q13.33 gain 1 - p Pinto, 2010
AutCNV0004395 22 22q13.31-q13.33 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004396 22 22q13.31-q13.33 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004397 22 22q13.33 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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