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SHANK3 Gene

protein-coding   GIFtS: 55
GCID: GC22P051112

SH3 And Multiple Ankyrin Repeat Domains 3

  See SHANK3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SH3 And Multiple Ankyrin Repeat Domains 31 2     KIAA16503 5
PROSAP22 3 5     SPANK-22
PSAP22 3 5     SH3 And Multiple Ankyrin Repeat Domains Protein 32
Proline Rich Synapse Associated Protein 21 2     ProSAP23
Shank Postsynaptic Density Protein1 2     Shank33
DEL22q13.32 5     Proline-Rich Synapse-Associated Protein 23
SCZD152 5     

External Ids:    HGNC: 142941   Entrez Gene: 853582   Ensembl: ENSG000002513227   OMIM: 6062305   UniProtKB: Q9BYB03   

Export aliases for SHANK3 gene to outside databases

Previous GC identifers: GC22P047663 GC22P047619 GC22P049291 GC22P049245 GC22P049402 GC22P034005


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SHANK3 Gene:
This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the
postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the
actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation
and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is
characterized by impairments in social interaction and communication, and restricted behavioral patterns and
interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the
neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional
isoforms have been described for this gene but they have not yet been experimentally verified. (provided by
RefSeq, Mar 2012)

GeneCards Summary for SHANK3 Gene:
SHANK3 (SH3 and multiple ankyrin repeat domains 3) is a protein-coding gene. Diseases associated with SHANK3 include ring chromosome 22, and autism spectrum disorder. GO annotations related to this gene include scaffold protein binding and protein C-terminus binding. An important paralog of this gene is SHANK1.

UniProtKB/Swiss-Prot: SHAN3_HUMAN, Q9BYB0
Function: Major scaffold postsynaptic density protein which interacts with multiple proteins and complexes to
orchestrate the dendritic spine and synapse formation, maturation and maintenance. Interconnects receptors of the
postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and
HOMER, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization
of the dendritic spine and synaptic junction through the interaction with Arp2/3 and WAVE1 complex as well as the
promotion of the F-actin clusters. By way of this control of actin dynamics, participates in the regulation of
developing neurons growth cone motility and the NMDA receptor-signaling. Also modulates GRIA1 exocytosis and
GRM5/MGLUR5 expression and signaling to control the AMPA and metabotropic glutamate receptor-mediated synaptic
transmission and plasticity. May be required at an early stage of synapse formation and be inhibited by IGF1 to
promote synapse maturation

Gene Wiki entry for SHANK3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011526.8  
Regulatory elements:
   Regulatory transcription factor binding sites in the SHANK3 gene promoter:
         E2F-3a   E2F-4   E2F-5   E2F-2   Meis-1b   PPAR-gamma1   E2F-1   E2F   Meis-1a   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SHANK3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SHANK3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.3   Ensembl cytogenetic band:  22q13.33   HGNC cytogenetic band: 22q13.3

SHANK3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SHANK3 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P051112:  view genomic region     (about GC identifiers)

Start:
51,112,843 bp from pter      End:
51,171,726 bp from pter
Size:
58,884 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SHAN3_HUMAN, Q9BYB0 (See protein sequence)
Recommended Name: SH3 and multiple ankyrin repeat domains protein 3  
Size: 1731 amino acids; 184667 Da
Subunit: May homomultimerize via its SAM domain. Interacts with BAIAP2, DBNL and SLC17A7/VGLUT1. Interacts with
DLGAP1/GKAP, GRM1/MGLUR1, GRM5/MGLUR5 and LZTS3 C-termini via its PDZ domain. Interacts with ABI1, HOMER1,
HOMER2, HOMER3 and CTTN/cortactin SH3 domain. Is part of a complex with DLG4/PSD-95 and DLGAP1/GKAP. Interacts
(via PDZ domain) with the GRIA1 subunit of the AMPA receptor (via PDZ-binding motif). Interacts with WASF1 and
CYFIP2; the interactions mediate the association of SHANK3 with the WAVE1 complex. Interacts with ARPC2; the
interaction probably mediates the association of SHANK3 with the Arp2/3 complex. Interacts (via ANK repeats) with
SHARPIN and SPTAN1. Interacts (via PDZ domain) with ARHGAP44 (probably via PDZ-binding motif); the interaction
takes place in dendritic spines and promotes GRIA1 exocytosis (By similarity)
Secondary accessions: D7UT47 Q8TET3
Alternative promoter usage: 2 isoforms:  Q9BYB0-1   Q9BYB0-3   (Produced by alternative promoter usage)

Explore the universe of human proteins at neXtProt for SHANK3: NX_Q9BYB0

Explore proteomics data for SHANK3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SHANK3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_277052.1  
    ENSEMBL proteins: 
     ENSP00000464552   ENSP00000442518   ENSP00000446078  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing
    SAMD: Sterile alpha motif (SAM) domain containing

    Selected InterPro protein domains (see all 8):
     IPR021129 SAM_type1
     IPR001452 SH3_domain
     IPR002110 Ankyrin_rpt
     IPR011511 SH3_2
     IPR013761 SAM/pointed

    Graphical View of Domain Structure for InterPro Entry Q9BYB0

    ProtoNet protein and cluster: Q9BYB0

    1 Blocks protein domain: IPB001660 Sterile alpha motif SAM

    UniProtKB/Swiss-Prot: SHAN3_HUMAN, Q9BYB0
    Domain: In isoform 1, the N-terminal region preceding the ANK repeats interacts with the 6 ANK repeats in an
    intramolecular manner, thereby restricting access to ligands, such as SHARPIN and SPTAN1 (By similarity)
    Similarity: Contains 6 ANK repeats
    Similarity: Contains 1 PDZ (DHR) domain
    Similarity: Contains 1 SAM (sterile alpha motif) domain
    Similarity: Contains 1 SH3 domain


    Find genes that share domains with SHANK3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SHAN3_HUMAN, Q9BYB0
    Function: Major scaffold postsynaptic density protein which interacts with multiple proteins and complexes to
    orchestrate the dendritic spine and synapse formation, maturation and maintenance. Interconnects receptors of the
    postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and
    HOMER, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization
    of the dendritic spine and synaptic junction through the interaction with Arp2/3 and WAVE1 complex as well as the
    promotion of the F-actin clusters. By way of this control of actin dynamics, participates in the regulation of
    developing neurons growth cone motility and the NMDA receptor-signaling. Also modulates GRIA1 exocytosis and
    GRM5/MGLUR5 expression and signaling to control the AMPA and metabotropic glutamate receptor-mediated synaptic
    transmission and plasticity. May be required at an early stage of synapse formation and be inhibited by IGF1 to
    promote synapse maturation

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI17474147
    GO:0008022protein C-terminus binding ISS--
    GO:0008270zinc ion binding ISS--
    GO:0017124SH3 domain binding ISS--
         
    Find genes that share ontologies with SHANK3           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Shank3):
     behavior/neurological  growth/size/body  integument  nervous system  no phenotypic analysis 
     taste/olfaction 

    Find genes that share phenotypes with SHANK3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SHANK3: Shank3tm1.1Geno Shank3tm1.2Bux

       genOway: Develop your customized and physiologically relevant rodent model for SHANK3

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SHAN3_HUMAN, Q9BYB0: Cytoplasm. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell
    projection, dendritic spine (By similarity). Note=In neuronal cells, extends into the region subjacent to the
    postsynaptic density (PSD) (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol3
    plasma membrane3
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane ISS--
    GO:0014069postsynaptic density ----
    GO:0030054cell junction IEA--
    GO:0043005neuron projection ISS--

    Find genes that share ontologies with SHANK3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SHANK3 About    
    See pathways by source

    SuperPathContained pathways About
    1Circadian entrainment
    Glutamatergic synapse0.39
    2Cytoplasmic microtubules
    Cytoplasmic microtubules0.32
    3Signaling events regulated by Ret tyrosine kinase
    Signaling events regulated by Ret tyrosine kinase


    Find genes that share SuperPaths with SHANK3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SHANK3
        Signaling events regulated by Ret tyrosine kinase


    1 Kegg Pathway  (Kegg details for SHANK3):
        Glutamatergic synapse

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SHANK3
    Interactions:

        Search GeneGlobe Interaction Network for SHANK3

    Selected Interacting proteins for SHANK3 (Q9BYB01, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLCG1P191741, 2, 3EBI-1752330,EBI-79387 MINT-8112771 I2D: score=3 
    ABL1P005192, 3MINT-8110755 I2D: score=3 
    FYNP062412, 3MINT-8111523 I2D: score=3 
    PIK3R1P279862, 3MINT-8112243 I2D: score=3 
    SRCP129312, 3MINT-8113275 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 33):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade ISS--
    GO:0001838embryonic epithelial tube formation ----
    GO:0007416synapse assembly ISS--
    GO:0007612learning ISS--
    GO:0007613memory ISS--

    Find genes that share ontologies with SHANK3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SHANK3 (SHAN3)

    1 Novoseek inferred chemical compound relationship for SHANK3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 20.6 1 16495462 (1)



    Find genes that share compounds with SHANK3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SHANK3 gene (2 alternative transcripts): 
    NM_033517.1  NM_001080420.1  

    Unigene Cluster for SHANK3:

    SH3 and multiple ankyrin repeat domains 3
    Hs.149035  [show with all ESTs]
    Unigene Representative Sequence: NM_033517
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000414786 ENST00000262795(uc003bne.1) ENST00000445220(uc003bnf.1)

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    Additional mRNA sequence: 

    AB051437.1 AB569469.1 AK074038.1 BC018856.2 BC045765.1 BC062987.1 

    12 DOTS entries:

    DT.109155  DT.109915  DT.40271224  DT.100774274  DT.120643169  DT.120643207  DT.426095  DT.95228505 
    DT.100802585  DT.92010270  DT.92421124  DT.95280735 

    3 AceView cDNA sequences:

    AA443953 AA444132 BF737674 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SHANK3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGTGGGGTGT
    SHANK3 Expression
    About this image


    SHANK3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Heart (Cardiovascular System)
             Cardiac Crescent Cells Cardiac Crescent
    SHANK3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SHANK3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.149035

    UniProtKB/Swiss-Prot: SHAN3_HUMAN, Q9BYB0
    Tissue specificity: Expressed in the cerebral cortex and the cerebellum

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SHANK3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Shank31 , 5 SH3/ankyrin domain gene 31, 5 87.79(n)1
    94.68(a)1
      15 (44.96 cM)5
    582341  NM_021423.31  NP_067398.21 
     894996235 
    chicken
    (Gallus gallus)
    Aves SHANK36
    SH3 and multiple ankyrin repeat domains 3
    46(a)
    1 ↔ 1
    1(179394-421343)
    lizard
    (Anolis carolinensis)
    Reptilia SHANK36
    SH3 and multiple ankyrin repeat domains 3
    69(a)
    1 ↔ 1
    GL343837.1(74615-166283)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia shank31 SH3 and multiple ankyrin repeat domains 3 65.59(n)
    70.92(a)
      100488068  XM_002941835.2  XP_002941881.2 
    zebrafish
    (Danio rerio)
    Actinopterygii shank3b1 SH3 and multiple ankyrin repeat domains 3b 62.34(n)
    65.7(a)
      566152  XM_005164598.1  XP_005164655.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Prosap6
    Prosap
    24(a)
    1 → many
    2R(9947961-10028403)
    worm
    (Caenorhabditis elegans)
    Secernentea shn-16
    Protein SHN-1, isoform b (shn-1) mRNA, complete cd...
    31(a)
    1 → many
    II(11384585-11390862) WBGene00006444


    ENSEMBL Gene Tree for SHANK3 (if available)
    TreeFam Gene Tree for SHANK3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SHANK3 gene
    SHANK12  SHANK22  
    6 SIMAP similar genes for SHANK3 using alignment to 9 protein entries:     SHAN3_HUMAN (see all proteins):
    ARHGEF7    ARHGAP23    SHANK2    OSBPL1A    RAI14    HACE1

    Find genes that share paralogs with SHANK3           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for SHANK3
    PGOHUM00000239381


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SHANK3 (see all 1477)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0702594
    Phelan-McDermid syndrome (PHEDE)4--see VAR_0702592 P A mis40--------
    VAR_0702704
    Phelan-McDermid syndrome (PHEDE)4--see VAR_0702702 A S mis40--------
    VAR_0658004
    Schizophrenia 15 (SCZD15)4--see VAR_0658002 R W mis40--------
    rs802591021,2
    C,F--51111103(+) CCACCC/TCTCCC 1 -- us2k11Minor allele frequency- T:0.03NA 120
    rs1144018421,2
    F--51111139(+) CTCAGC/TTGCAC 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1174525841,2
    C,F--51111155(+) AGGCCA/CGGCCA 1 -- us2k11Minor allele frequency- C:0.02EA 120
    rs1380381391,2
    --51111218(+) CAACCA/GTCTAG 1 -- us2k10--------
    rs1871818311,2
    --51111252(+) ACCCAC/TACACC 1 -- us2k10--------
    rs1136517921,2
    C,F--51111340(+) GTGAGG/ACCCTG 1 -- us2k12Minor allele frequency- A:0.08CSA WA 120
    rs746114521,2
    F--51111429(+) AGGTGC/GTGGTC 1 -- us2k11Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for SHANK3 (51112843 - 51171726 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SHANK3 (see all 26):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661079CNV Deletion23128226
    esv1075589CNV Deletion17803354
    esv988358CNV Deletion20482838
    esv1327937CNV Deletion17803354
    esv1399411CNV Deletion17803354
    esv1007050CNV Deletion20482838
    esv1009137CNV Deletion20482838
    esv1366623CNV Insertion17803354
    nsv513599CNV Insertion21212237
    nsv428394CNV Loss18775914

    Human Gene Mutation Database (HGMD): SHANK3
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SHANK3
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606230   
    OMIM disorders: 606232  613950  
    UniProtKB/Swiss-Prot: SHAN3_HUMAN, Q9BYB0
  • Note=A chromosomal aberration involving SHANK3 is found in patients with chromosome 22q13.3 deletion
    syndrome. Translocation t(12;22)(q24.1;q13.3) with APPL2/DIP13B
  • Note=Defects in SHANK3 are associated with neuropsychiatric disorders such as autism spectrum disorders
    (ASD), bipolar affective disorders and early dementia onset. ASD are characterized by impairments in reciprocal
    social interaction and communication as well as restricted and stereotyped patterns of interest and activities.
    ASD include forms with moderate to severe cognitive impairment and milder forms with higher cognitive ability
    (Asperger syndrome). Gene duplication is associated with hyperkinetic neuropsychiatric disorders
    (PubMed:24153177) such as hyperactivity, auditory overstimulation, epilepsy and bipolar affective disorders,
    among others
  • Phelan-McDermid syndrome (PHEDE) [MIM:606232]: A developmental disorder with variable features. Common
    features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely
    delayed speech, autistic behavior, and minor dysmorphic features. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Schizophrenia 15 (SCZD15) [MIM:613950]: A complex, multifactorial psychotic disorder or group of
    disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in
    mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego
    boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects
    emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be
    mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive
    function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are
    often given the diagnosis of schizoaffective disorder. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 7 diseases for SHANK3:    
    About MalaCards
    ring chromosome 22    autism spectrum disorder    trisomy 22    schizophrenia 15
    phelan-mcdermid syndrome    jacobsen syndrome    schizophrenia

    3 diseases from the University of Copenhagen DISEASES database for SHANK3:
    Autistic disorder     Asperger syndrome     Intellectual disability

    Find genes that share disorders with SHANK3           About GenesLikeMe

    1 Novoseek inferred disease relationship for SHANK3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 55.4 1 16284256 (1)

    Genetic Association Database (GAD): SHANK3
    Human Genome Epidemiology (HuGE) Navigator: SHANK3 (8 documents)

    Export disorders for SHANK3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SHANK3 gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with SHANK3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. (PubMed id 11431708)1, 2, 3, 9 Bonaglia M.C.... Zuffardi O. (Am. J. Hum. Genet. 2001)
    2. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. (PubMed id 17173049)1, 2, 3, 9 Durand C.M.... Bourgeron T. (Nat. Genet. 2007)
    3. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PubMed id 11258795)1, 2, 3 Hirosawa M.... Ohara O. (DNA Res. 2001)
    4. The Shank family of scaffold proteins. (PubMed id 10806096)1, 2, 3 Sheng M. and Kim E. (J. Cell Sci. 2000)
    5. Association study of SHANK3 gene polymorphisms with autism in Chinese Han population. (PubMed id 19566951)1, 4, 9 Qin J....Zhang D. (BMC Med. Genet. 2009)
    6. SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. (PubMed id 24153177)1, 2 Han K.... Zoghbi H.Y. (Nature 2013)
    7. SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. (PubMed id 24132240)1, 2 Shcheglovitov A.... Dolmetsch R.E. (Nature 2013)
    8. Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. (PubMed id 22892527)1, 2 Boccuto L....Schwartz C.E. (Eur. J. Hum. Genet. 2013)
    9. De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. (PubMed id 20385823)1, 2 Gauthier J.... Rouleau G.A. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    10. Linkage and candidate gene studies of autism spectrum disorders in European populations. (PubMed id 20442744)1, 4 Holt R....Monaco A.P. (Eur. J. Hum. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 85358 HGNC: 14294 AceView: SHANK3.1 Ensembl:ENSG00000251322 euGenes: HUgn85358
    ECgene: SHANK3 Kegg: 85358 H-InvDB: SHANK3

    (According to HUGE)
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    HUGE: KIAA1650

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SHANK3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SHANK3 gene:
    Search GeneIP for patents involving SHANK3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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