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SHANK2 Gene

protein-coding   GIFtS: 63
GCID: GC11M070313

SH3 And Multiple Ankyrin Repeat Domains 2

(Previous name: cortactin binding protein 1)
(Previous symbol: CORTBP1)
  See SHANK2-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 21 2     SPANK-32
CORTBP11 2 3 5     Cortactin SH3 Domain-Binding Protein2
Cortactin-Binding Protein 12 3     GKAP/SAPAP Interacting Protein2
Proline-Rich Synapse-Associated Protein 12 3     Proline-Rich Synapse Associated Protein 12
AUTS172 5     SH3 And Multiple Ankyrin Repeat Domains Protein 22
Cortactin Binding Protein 11     CortBP13
CTTNBP12     KIAA10223
ProSAP12     PROSAP13
SHANK2     Shank23

External Ids:    HGNC: 142951   Entrez Gene: 229412   Ensembl: ENSG000001621057   OMIM: 6032905   UniProtKB: Q9UPX83   

Export aliases for SHANK2 gene to outside databases

Previous GC identifers: GC11M072645 GC11M071836 GC11M070536 GC11M070040 GC11M069991 GC11M066575


(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 SHANK2 Gene:
This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as
molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains
for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member
contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif.
The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the
molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the
adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism
spectrum disorder. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Feb 2014)

GeneCards Summary for SHANK2 Gene:
SHANK2 (SH3 and multiple ankyrin repeat domains 2) is a protein-coding gene. Diseases associated with SHANK2 include autism susceptibility 17, and autism spectrum disorder. GO annotations related to this gene include SH3 domain binding and GKAP/Homer scaffold activity. An important paralog of this gene is SHANK1.

UniProtKB/Swiss-Prot: SHAN2_HUMAN, Q9UPX8
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,
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 SHANK2 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_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SHANK2 gene promoter:
         Bach1   AML1a   Pbx1a   p53   CUTL1   XBP-1   Ik-3   GATA-2   POU2F1a   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSHANK2 promoter sequence
   Search Chromatin IP Primers for SHANK2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SHANK2


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

Entrez Gene cytogenetic band: 11q13.2   Ensembl cytogenetic band:  11q13.4   HGNC cytogenetic band: 11q13.2

SHANK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SHANK2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M070313:  view genomic region     (about GC identifiers)

Start:
70,313,961 bp from pter      End:
70,963,623 bp from pter
Size:
649,663 bases      Orientation:
minus 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: SHAN2_HUMAN, Q9UPX8 (See protein sequence)
Recommended Name: SH3 and multiple ankyrin repeat domains protein 2  
Size: 1470 amino acids; 158822 Da
Subunit: Is part of a complex with DLG4/PSD-95 and DLGAP1/GKAP. Interacts with CTTN/cortactin SH3 domain,
DLGAP1/GKAP and alpha-latrotoxin receptor 1. Interacts with DNM2, DBNL, GRID2, BAIAP2, SLC9A3, PLCB3 and CFTR.
Interacts (via proline-rich region) with PDE4D. Interacts with ABI1 (via SH3 domain)
Secondary accessions: C0SPG8 C0SPG9 Q3Y8G9 Q52LK2 Q9UKP1
Alternative splicing: 4 isoforms:  Q9UPX8-1   Q9UPX8-2   Q9UPX8-3   Q9UPX8-4   (Contains 6 ANK repeats at positions 196-226, 230-259, 263-293, 297-326, 330-359, 363-393)

Explore the universe of human proteins at neXtProt for SHANK2: NX_Q9UPX8

Explore proteomics data for SHANK2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Thr1288
  • Modification sites at PhosphoSitePlus

  • See SHANK2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_036441.2  NP_573573.2  

    ENSEMBL proteins: 
     ENSP00000386491   ENSP00000402944   ENSP00000414876   ENSP00000294018   ENSP00000387324  
     ENSP00000391570   ENSP00000392674   ENSP00000406307   ENSP00000405471   ENSP00000390636  
     ENSP00000388513   ENSP00000390735   ENSP00000345193   ENSP00000394536   ENSP00000399423  
     ENSP00000394939   ENSP00000349694  

    SHANK2 Human Recombinant Protein Products:

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    antibodies-online proteins for SHANK2 (2 products) 

     
    antibodies-online peptides for SHANK2

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    antibodies-online antibodies for SHANK2 (89 products) 

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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 6):
     IPR021129 SAM_type1
     IPR001452 SH3_domain
     IPR011511 SH3_2
     IPR013761 SAM/pointed
     IPR001660 SAM

    Graphical View of Domain Structure for InterPro Entry Q9UPX8

    ProtoNet protein and cluster: Q9UPX8

    2 Blocks protein domains:
    IPB001478 PDZ/DHR/GLGF domain
    IPB001660 Sterile alpha motif SAM


    UniProtKB/Swiss-Prot: SHAN2_HUMAN, Q9UPX8
    Domain: The PDZ domain is required for interaction with GRID2, PLCB3, CFTR and SLC9A3 (By similarity)
    Similarity: Belongs to the SHANK family
    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 SHANK2           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: SHAN2_HUMAN, Q9UPX8
    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,
    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): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11583995
    GO:0017124SH3 domain binding IEA--
    GO:0030160GKAP/Homer scaffold activity NAS10506216
    GO:0035255ionotropic glutamate receptor binding ISS--
         
    Find genes that share ontologies with SHANK2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SHANK2:
     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Shank2):
     behavior/neurological  growth/size/body  mortality/aging  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with SHANK2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SHANK2: Shank2tm1Mgle Shank2tm1.1Tmb

       genOway: Develop your customized and physiologically relevant rodent model for SHANK2

    miRNA
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    miRTarBase miRNAs that target SHANK2:
    hsa-mir-1307-3p (MIRT035822)

    Block miRNA regulation of human, mouse, rat SHANK2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SHANK2 (see all 165):
    hsa-miR-411* hsa-miR-631 hsa-miR-106a hsa-miR-519a hsa-miR-298 hsa-miR-130b hsa-miR-548y hsa-miR-3139
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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
    SHAN2_HUMAN, Q9UPX8: Apical cell membrane (By similarity). Cytoplasm (By similarity). Cell junction, synapse (By
    similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Cell
    projection, growth cone (By similarity). Cell projection, dendritic spine (By similarity). Note=Colocalizes with
    cortactin in growth cones in differentiating hippocampal neurons. Colocalized with PDE4D to the apical membrane
    of colonic crypt cells (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    plasma membrane3
    cytoskeleton2
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ISS--
    GO:0001917photoreceptor inner segment ISS--
    GO:0005575cellular_component ND--
    GO:0005737cytoplasm ----
    GO:0005883colocalizes with neurofilament ISS--

    Find genes that share ontologies with SHANK2           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 SHANK2 About    
    See pathways by source

    SuperPathContained pathways About
    1Circadian entrainment
    Glutamatergic synapse0.39
    2Regulation of CFTR activity norm and CF
    Regulation of CFTR activity norm and CF 0.38
    3Cytoplasmic microtubules
    Cytoplasmic microtubules0.32
    4Neuroscience
    Neuroscience


    Find genes that share SuperPaths with SHANK2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for SHANK2
        Neuroscience

    1 GeneGo (Thomson Reuters) Pathway for SHANK2
        Regulation of CFTR activity (norm and CF)


    1 Kegg Pathway  (Kegg details for SHANK2):
        Glutamatergic synapse

        Pathway & Disease-focused RT2 Profiler PCR Array including SHANK2: 
              GABA & Glutamate in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SHANK2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SHANK2 (Q9UPX81, 2, 3 ENSP000003451934) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3R1P279861, 2, 3, ENSP000002743354EBI-1570571,EBI-79464 MINT-8112231 I2D: score=3 STRING: ENSP00000274335
    PLCG1P191741, 2, 3, ENSP000002440074EBI-1570571,EBI-79387 MINT-8112759 I2D: score=3 STRING: ENSP00000244007
    CRKP461081, 3, ENSP000003005744EBI-1570571,EBI-886 I2D: score=2 STRING: ENSP00000300574
    NCK1P163331, 3, ENSP000002889864EBI-1570571,EBI-389883 I2D: score=2 STRING: ENSP00000288986
    GRB2P629931, 3, ENSP000003390074EBI-1570571,EBI-401755 I2D: score=2 STRING: ENSP00000339007
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007416synapse assembly ISS--
    GO:0007612learning IMP--
    GO:0030534adult behavior IMP--
    GO:0035176social behavior IMP--
    GO:0035556intracellular signal transduction ----

    Find genes that share ontologies with SHANK2           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 SHANK2 (SHAN2)

    4 Novoseek inferred chemical compound relationships for SHANK2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 50.7 9 15814786 (3), 19309525 (1), 10798399 (1), 19635471 (1) (see all 7)
    nmda 50.2 4 10433269 (2), 17898222 (1), 11498055 (1)
    inositol 1,4,5 trisphosphate 43.8 2 19309525 (1), 10798399 (1)
    calcium 6.25 4 15872106 (1), 15689540 (1), 15632121 (1), 18491060 (1)



    Find genes that share compounds with SHANK2           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 SHANK2 gene (2 alternative transcripts): 
    NM_012309.4  NM_133266.4  

    Unigene Cluster for SHANK2:

    SH3 and multiple ankyrin repeat domains 2
    Hs.268726  [show with all ESTs]
    Unigene Representative Sequence: NM_012309
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000409161 ENST00000424924 ENST00000412252 ENST00000294018 ENST00000409530(uc010rqo.1)
    ENST00000426687 ENST00000445654 ENST00000470759 ENST00000468619 ENST00000498519
    ENST00000460048 ENST00000425049 ENST00000419988 ENST00000425585 ENST00000458632
    ENST00000457074 ENST00000413503 ENST00000482659
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    hsa-miR-411* hsa-miR-631 hsa-miR-106a hsa-miR-519a hsa-miR-298 hsa-miR-130b hsa-miR-548y hsa-miR-3139
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    Additional mRNA sequence: 

    AB028945.1 AB208025.1 AB208026.1 AB208027.1 AF131790.1 AK095088.1 AK096045.1 AK128563.1 
    BC041371.2 BC093885.1 BC112097.1 BC113876.1 BC114484.1 BC127191.1 BC127192.1 BC143389.1 
    BX648718.1 DQ152234.1 

    10 DOTS entries:

    DT.456127  DT.91802823  DT.95305890  DT.40192945  DT.99936743  DT.120737651  DT.99936333  DT.451570 
    DT.95140197  DT.99956115 

    Selected AceView cDNA sequences (see all 93):

    AL157605 AI820534 AK095088 CN479529 F13328 AF131790 BX491930 AB028945 
    Z38294 BQ276250 F11855 Z42008 BX477724 BF435773 NM_012309 AI821382 
    BX279972 AA994779 AA456428 BU501150 AA643954 Z41838 NM_133266 BI551471 

    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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    SHANK2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTAGTTTCT
    SHANK2 Expression
    About this image


    SHANK2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
    SHANK2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SHANK2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.268726

    UniProtKB/Swiss-Prot: SHAN2_HUMAN, Q9UPX8
    Tissue specificity: Isoform 3 is present in epithelial colonic cells (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Array including SHANK2: 
              GABA & Glutamate in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHANK2

    (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 SHANK2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Shank21 , 5 SH3/ankyrin domain gene 21, 5 85.84(n)1
    89.09(a)1
      7 (88.45 cM)5
    2102741  NM_001113373.21  NP_001106844.21 
     1440019285 
    chicken
    (Gallus gallus)
    Aves SHANK21 SH3 and multiple ankyrin repeat domains 2 75.4(n)
    82.37(a)
      428858  XM_426415.4  XP_426415.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    79(a)
    77(a)
    1 ↔ many
    1 ↔ many
    GL343283.1(390103-391970)
    GL343283.1(243701-303600)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.200652 Xenopus laevis transcribed sequence 87.79(n)    BJ070703.1 
    zebrafish
    (Danio rerio)
    Actinopterygii shank21 SH3 and multiple ankyrin repeat domains 2 64.98(n)
    65.61(a)
      567595  NM_001128347.1  NP_001121819.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Prosap6
    Prosap
    25(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 SHANK2 (if available)
    TreeFam Gene Tree for SHANK2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SHANK2 gene
    SHANK12  SHANK32  
    Selected SIMAP similar genes for SHANK2 using alignment to 19 protein entries:     SHAN2_HUMAN (see all proteins) (see all similar genes):
    CORTBP1    ATP6V0A1    DNMT1    DCTN5    KLHL2    COL24A1
    FAM210A    RNF217    ZNF28    ZNF546    APOD    ASB11
    CATSPERG    CTSS    EDRF1    ERBB2    ZNF737    CFLAR

    Find genes that share paralogs with SHANK2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for SHANK2
    PGOHUM00000233726


    (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 SHANK2 (see all 14100)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1404343541,2
    Cuntested170331925(+) TCCTCG/AATCCC 4 /I syn11Minor allele frequency- A:0.00NA 4546
    rs57925261,2
    C--66743730(+) gtatg-/AGTGTGT 1 -- int11Minor allele frequency- AG:0.00NA 2
    rs603486451,2
    C--70297925(+) AAAAA-/A/AAAA
            
    GGCCC
    2 -- int11NA 2
    rs1446582141,2
    C--70313532(+) TGCTCA/GGGGAA 2 -- ds50010--------
    rs1485089401,2
    --70313593(+) ACTGAC/TGTACT 2 -- ds50010--------
    rs2022040401,2
    --70313608(+) CATCG-/TTTTTT 2 -- ds50010--------
    rs1887758551,2
    C--70313746(+) TGATAC/TTGATG 2 -- ds50010--------
    rs1422060891,2
    C--70313834(+) CCTGTA/GGTTAA 2 -- ds50010--------
    rs1922156821,2
    C--70313863(+) AAAATC/TCTCAA 2 -- ds50010--------
    rs618858731,2
    --70313873(+) AACACA/GTTTTG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for SHANK2 (70313961 - 70563961 bp, first 250kb of SHANK2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SHANK2 (see all 62):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658655CNV Deletion23128226
    esv2744725CNV Deletion23290073
    esv2744736CNV Deletion23290073
    esv2744728CNV Deletion23290073
    esv2744737CNV Deletion23290073
    esv2744724CNV Deletion23290073
    esv2663201CNV Deletion23128226
    esv2744738CNV Deletion23290073
    esv2744716CNV Deletion23290073
    esv2072312CNV Deletion18987734

    Human Gene Mutation Database (HGMD): SHANK2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SHANK2
    DNA2.0 Custom Variant and Variant Library Synthesis for SHANK2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603290   
    OMIM disorders: 613436  
    UniProtKB/Swiss-Prot: SHAN2_HUMAN, Q9UPX8
  • Autism 17 (AUTS17) [MIM:613436]: A complex multifactorial, pervasive developmental disorder characterized
    by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of
    interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals
    with autism also manifest moderate mental retardation. Note=Disease susceptibility is associated with variations
    affecting the gene represented in this entry

  • 3 diseases for SHANK2:    
    About MalaCards
    autism susceptibility 17    autism spectrum disorder    secretory diarrhea

    2 diseases from the University of Copenhagen DISEASES database for SHANK2:
    Secretory diarrhea     Autistic disorder

    Find genes that share disorders with SHANK2           About GenesLikeMe

    Genetic Association Database (GAD): SHANK2
    Human Genome Epidemiology (HuGE) Navigator: SHANK2 (2 documents)

    Export disorders for SHANK2 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 SHANK2 gene, integrated from 10 sources (see all 80):
    (articles sorted by number of sources associating them with SHANK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. (PubMed id 20473310)1, 2, 4 Berkel S.... Rappold G.A. (Nat. Genet. 2010)
    2. Characterization of the shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development. (PubMed id 10506216)1, 2, 3 Lim S....Kim E. (J. Biol. Chem. 1999)
    3. The Shank family of scaffold proteins. (PubMed id 10806096)1, 2, 9 Sheng M. and Kim E. (J. Cell Sci. 2000)
    4. Functional impact of global rare copy number variation in autism spectrum disorders. (PubMed id 20531469)1, 4 Pinto D....Betancur C. (Nature 2010)
    5. Shank2 associates with and regulates Na+/H+ exchanger 3. (PubMed id 16293618)1, 2 Han W.... Lee M.G. (J. Biol. Chem. 2006)
    6. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)1, 2 Taylor T.D....Sakaki Y. (Nature 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42. (PubMed id 12504591)1, 2 Soltau M.... Kreienkamp H.-J. (Mol. Cell. Neurosci. 2002)
    9. Dynamin isoform-specific interaction with the shank/ProSAP scaffolding proteins of the postsynaptic density and actin cytoskeleton. (PubMed id 11583995)1, 2 Okamoto P.M.... Vallee R.B. (J. Biol. Chem. 2001)
    10. 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. (PubMed id 10470851)1, 2 Kikuno R.... Ohara O. (DNA Res. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 22941 HGNC: 14295 AceView: SHANK2 Ensembl:ENSG00000162105 euGenes: HUgn22941
    ECgene: SHANK2 Kegg: 22941 H-InvDB: SHANK2

    (According to HUGE)
    About This Section

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    HUGE: KIAA1022

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

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    NameDescription
    PharmGKB entry for SHANK2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SHANK2 gene:
    Search GeneIP for patents involving SHANK2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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