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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SHANK3 Gene

protein-coding   GIFtS: 55
GCID: GC22P051112

SH3 And Multiple Ankyrin Repeat Domains 3

Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
SH3 And Multiple Ankyrin Repeat Domains 31 2     SCZD152
PSAP22 3 5     SPANK-22
Proline Rich Synapse Associated Protein 21 2     SH3 And Multiple Ankyrin Repeat Domains Protein 32
Shank Postsynaptic Density Protein1 2     ProSAP23
DEL22q13.32 5     Shank33
PROSAP22 5     Proline-Rich Synapse-Associated Protein 23
KIAA16503 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 autism spectrum disorder, and phelan-mcdermid syndrome, and among its related super-pathways are Circadian entrainment and Cytoskeleton remodeling Neurofilaments. 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: Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that
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. May play a role in the
structural and functional organization of the dendritic spine and synaptic junction

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011526.7  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SHANK3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SHAN3_HUMAN, Q9BYB0 (See protein sequence)
Recommended Name: SH3 and multiple ankyrin repeat domains protein 3  
Size: 1741 amino acids; 186295 Da
Subunit: May homomultimerize via its SAM domain (By similarity). Interacts with DLGAP1/GKAP, MGLUR1A, MGLUR5
C-termini via its PDZ domain (By similarity). Interacts with HOMER1, HOMER2, HOMER3 and CTTN/cortactin SH3 domain
(By similarity). Is part of a complex with DLG4/PSD-95 and DLGAP1/GKAP. Interacts with DBNL. Interacts (via PDZ
domain) with LZTS3 (via C-terminus) (By similarity). Interacts with BAIAP2
Subcellular location: Cytoplasm (By similarity). Cell junction, synapse (By similarity). Cell junction, synapse,
postsynaptic cell membrane, postsynaptic density (By similarity). Note=Postsynaptic density of neuronal cells (By
similarity)
Secondary accessions: Q8TET3
Alternative splicing: 2 isoforms:  Q9BYB0-1   Q9BYB0-2   

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

Explore proteomics data for SHANK3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BYB0

  • SHANK3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SHANK3 Protein Expression
    REFSEQ proteins: NP_277052.1  
    ENSEMBL proteins: 
     ENSP00000464552   ENSP00000442518   ENSP00000446078  

    Human Recombinant Protein Products for SHANK3: 
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    Novus Biologicals SHANK3 Lysate
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    Cloud-Clone Corp. Proteins for SHANK3 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (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--

    SHANK3 for ontologies           About GeneDecksing



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

    5/8 InterPro protein domains (see all 8):
     IPR011511 SH3_2
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR001478 PDZ
     IPR021129 SAM_type1

    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
    Similarity: Contains 6 ANK repeats
    Similarity: Contains 1 PDZ (DHR) domain
    Similarity: Contains 1 SAM (sterile alpha motif) domain
    Similarity: Contains 1 SH3 domain


    SHANK3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SHAN3_HUMAN, Q9BYB0
    Function: Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that
    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. May play a role in the
    structural and functional organization of the dendritic spine and synaptic junction

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17474147
    GO:0008022protein C-terminus binding ISS--
    GO:0008270zinc ion binding ----
    GO:0017124SH3 domain binding IEA--
    GO:0030160GKAP/Homer scaffold activity ISS--
         
    SHANK3 for ontologies           About GeneDecksing


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

    SHANK3 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SHANK3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SHANK3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SHANK3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SHANK3 

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    8/89 QIAGEN miScript miRNA Assays for microRNAs that regulate SHANK3 (see all 89):
    hsa-miR-579 hsa-miR-3607-3p hsa-miR-631 hsa-miR-1914* hsa-miR-128 hsa-miR-374a hsa-miR-3150b-3p hsa-miR-3622b-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHANK3


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SHANK3 About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SHANK3
        Cytoplasmic microtubules


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


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


    SHANK3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SHANK3

    5/26 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): 5/31 biological process terms (GO ID links to tree view) (see all 31):    About this table

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

    SHANK3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SHANK3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about SHANK3 / SHAN3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)


    miRNA
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    8/89 QIAGEN miScript miRNA Assays for microRNAs that regulate SHANK3 (see all 89):
    hsa-miR-579 hsa-miR-3607-3p hsa-miR-631 hsa-miR-1914* hsa-miR-128 hsa-miR-374a hsa-miR-3150b-3p hsa-miR-3622b-3p
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SHANK3

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SHANK3 expression in normal human tissues (normalized intensities)      SHANK3 embryonic expression: see
    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 
     5/7 selected tissues (see all 7) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 8 entries
             PureStem ES-335, Meso-latp Progenitor
             Human Renal Glomerular Endothelial Cells (HRGEC)   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             PureStem endothelial progenitor 30-MV2-12
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiac Crescent Cells Cardiac Crescent
             Human Pulmonary Artery Endothelial Cells (HPAEC)   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Human Umbilical Vein Endothelial Cells (HUVEC) (ScienceCell)   
     
     Kidney (Urinary System)
             Human Renal Glomerular Endothelial Cells (HRGEC)   

    See SHANK3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SHANK3

    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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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHANK3

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SHANK3 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Shank35 SH3/ankyrin domain gene 3   --   15 (44.96 cM) 89499623 
    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
    67(a)
    1 ↔ 1
    GL343837.1(74615-166283)
    zebrafish
    (Danio rerio)
    Actinopterygii shank3b6
    shank3a6
    (see all 3)
    SH3 and multiple ankyrin repeat domains 3a
    (see all 3)
    57(a)
    56(a)
    (see all 3)
    1 ↔ 1
    possible ortholog
    (see all 3)
    4(8617516-8648949)
    18(7127177-7294650)
    fruit fly
    (Drosophila melanogaster)
    Insecta Prosap6
    Prosap
    20(a)
    1 → many
    2R(9947961-10028403)
    worm
    (Caenorhabditis elegans)
    Secernentea shn-16
    Protein SHN-1, isoform c
    22(a)
    1 → many
    II(11384585-11390862)


    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)
    About This Section
    Paralogs for SHANK3 gene
    SHANK12  SHANK22  
    6 SIMAP similar genes for SHANK3 using alignment to 10 protein entries:     SHAN3_HUMAN (see all proteins):
    ARHGEF7    ARHGAP23    SHANK2    OSBPL1A    RAI14    HACE1

    SHANK3 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1462 SNPs in SHANK3 are shown (see all 1462)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0658004
    Schizophrenia 15 (SCZD15)4--see VAR_0658002 R W mis40--------
    VAR_0657994
    ----see VAR_0657992 H Q mis40--------
    VAR_0658084
    ----see VAR_0658082 P T mis40--------
    VAR_0658054
    ----see VAR_0658052 R K mis40--------
    VAR_0328064
    ----see VAR_0328062 A T mis40--------
    VAR_0658044
    ----see VAR_0658042 P H mis40--------
    VAR_0658034
    ----see VAR_0658032 G V mis40--------
    VAR_0328054
    ----see VAR_0328052 A G mis40--------
    VAR_0658064
    ----see VAR_0658062 V G mis40--------
    VAR_0328084
    ----see VAR_0328082 R C mis40--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/26 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606230   
    OMIM disorders: 606232  
    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 autism spectrum disorders (ASD). 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)
  • 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

  • 20/22 diseases for SHANK3 (see all 22):    About MalaCards
    autism spectrum disorder    phelan-mcdermid syndrome    trisomy 22    jacobsen syndrome
    psychotic disorder    asperger syndrome    intellectual disability    hepatitis a
    autoimmune hepatitis    schizoaffective disorder    schizophrenia    hypogonadism
    mood disorder    mental retardation    dementia    bipolar disorder
    hepatitis    cerebritis    alzheimer's disease    prostate cancer

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

    SHANK3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for SHANK3 gene, integrated from 9 sources (see all 82):
    (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. (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. (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. (2001)
    4. The Shank family of scaffold proteins. (PubMed id 10806096)1, 2, 3 Sheng M. and Kim E. (2000)
    5. Association study of SHANK3 gene polymorphisms with a utism in Chinese Han population. (PubMed id 19566951)1, 4, 9 Qin J....Zhang D. (2009)
    6. De novo mutations in the gene encoding the synaptic s caffolding protein SHANK3 in patients ascertained for schizophrenia. (PubMed id 20385823)1, 2 Gauthier J....Rouleau G.A. (2010)
    7. Linkage and candidate gene studies of autism spectrum disorders in European populations. (PubMed id 20442744)1, 4 Holt R....Monaco A.P. (2010)
    8. Inherited genetic variant predisposes to aggressive b ut not indolent prostate cancer. (PubMed id 20080650)1, 4 Xu J....Isaacs W.B. (2010)
    9. Replication study of candidate genes for cognitive abilities: the Lothian Birth Cohort 1936. (PubMed id 19077115)1, 4 Houlihan L.M....Deary I.J. (2009)
    10. Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. (PubMed id 19384346)1, 4 Sykes N.H....Monaco A.P. (2009)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 85358 HGNC: 14294 AceView: SHANK3.1 Ensembl:ENSG00000251322 euGenes: HUgn85358
    ECgene: SHANK3 Kegg: 85358 H-InvDB: SHANK3

    (According to HUGE)
    About This Section
    HUGE: KIAA1650

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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