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SHANK3 (SH3 and multiple ankyrin repeat domains 3)

Identity

Other namesDEL22q13.3
PROSAP2
PSAP2
SCZD15
SPANK-2
HGNC (Hugo) SHANK3
LocusID (NCBI) 85358
Location 22q13.33
Location_base_pair Starts at 51113070 and ends at 51171640 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)SHANK3   14294
Cards
Entrez_Gene (NCBI)SHANK3  85358  SH3 and multiple ankyrin repeat domains 3
GeneCards (Weizmann)SHANK3
Ensembl (Hinxton)ENSG00000251322 [Gene_View]  chr22:51113070-51171640 [Contig_View]  SHANK3 [Vega]
AceView (NCBI)SHANK3
Genatlas (Paris)SHANK3
WikiGenes85358
SOURCE (Princeton)NM_001080420 NM_033517
Genomic and cartography
GoldenPath (UCSC)SHANK3  -  22q13.33   chr22:51113070-51171640 +  22q13.33   [Description]    (hg19-Feb_2009)
EnsemblSHANK3 - 22q13.33 [CytoView]
Mapping of homologs : NCBISHANK3 [Mapview]
OMIM606230   606232   613950   
Gene and transcription
Genbank (Entrez)AB051437 AB569469 AK074038 BC018856 BC045765
RefSeq transcript (Entrez)NM_001080420 NM_033517
RefSeq genomic (Entrez)AC_000154 NC_000022 NC_018933 NG_008607 NT_011526 NW_001838756 NW_004929431
Consensus coding sequences : CCDS (NCBI)SHANK3
Cluster EST : UnigeneHs.149035 [ NCBI ]
CGAP (NCI)Hs.149035
Alternative Splicing : Fast-db (Paris)GSHG0033018
Alternative Splicing GalleryENSG00000251322
Gene ExpressionSHANK3 [ NCBI-GEO ]     SHANK3 [ SEEK ]   SHANK3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BYB0 (Uniprot)
NextProtQ9BYB0  [Medical]
With graphics : InterProQ9BYB0
Splice isoforms : SwissVarQ9BYB0 (Swissvar)
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    PDZ (PS50106)    SAM_DOMAIN (PS50105)    SH3 (PS50002)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    PDZ    SAM    SAM/pointed    SAM_type1    SH3_2    SH3_domain   
Related proteins : CluSTrQ9BYB0
Domain families : Pfam (Sanger)Ank_2 (PF12796)    PDZ (PF00595)    SAM_1 (PF00536)    SH3_2 (PF07653)   
Domain families : Pfam (NCBI)pfam12796    pfam00595    pfam00536    pfam07653   
Domain families : Smart (EMBL)ANK (SM00248)  PDZ (SM00228)  SAM (SM00454)  SH3 (SM00326)  
DMDM Disease mutations85358
Blocks (Seattle)Q9BYB0
Human Protein AtlasENSG00000251322
Peptide AtlasQ9BYB0
IPIIPI00847618   IPI00872262   IPI00440952   IPI00019794   IPI00977226   
Protein Interaction databases
DIP (DOE-UCLA)Q9BYB0
IntAct (EBI)Q9BYB0
FunCoupENSG00000251322
BioGRIDSHANK3
InParanoidQ9BYB0
Interologous Interaction database Q9BYB0
IntegromeDBSHANK3
STRING (EMBL)SHANK3
Ontologies - Pathways
Ontology : AmiGOMAPK cascade  protein binding  cytoplasm  plasma membrane  synapse assembly  learning  memory  protein C-terminus binding  zinc ion binding  SH3 domain binding  striatal medium spiny neuron differentiation  cell junction  GKAP/Homer scaffold activity  negative regulation of actin filament bundle assembly  social behavior  ionotropic glutamate receptor binding  identical protein binding  neuron projection  neuron spine  postsynaptic membrane  negative regulation of cell volume  positive regulation of long-term neuronal synaptic plasticity  brain morphogenesis  positive regulation of synapse structural plasticity  positive regulation of synaptic transmission, glutamatergic  cilium membrane  dendritic spine morphogenesis  positive regulation of dendritic spine development  regulation of dendritic spine morphogenesis  vocalization behavior  postsynaptic density assembly  scaffold protein binding  alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering  N-methyl-D-aspartate receptor clustering  guanylate kinase-associated protein clustering  neuronal postsynaptic density  regulation of long-term synaptic potentiation  positive regulation of glutamate receptor signaling pathway  regulation of long term synaptic depression  positive regulation of excitatory postsynaptic membrane potential  positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity  
Ontology : EGO-EBIMAPK cascade  protein binding  cytoplasm  plasma membrane  synapse assembly  learning  memory  protein C-terminus binding  zinc ion binding  SH3 domain binding  striatal medium spiny neuron differentiation  cell junction  GKAP/Homer scaffold activity  negative regulation of actin filament bundle assembly  social behavior  ionotropic glutamate receptor binding  identical protein binding  neuron projection  neuron spine  postsynaptic membrane  negative regulation of cell volume  positive regulation of long-term neuronal synaptic plasticity  brain morphogenesis  positive regulation of synapse structural plasticity  positive regulation of synaptic transmission, glutamatergic  cilium membrane  dendritic spine morphogenesis  positive regulation of dendritic spine development  regulation of dendritic spine morphogenesis  vocalization behavior  postsynaptic density assembly  scaffold protein binding  alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering  N-methyl-D-aspartate receptor clustering  guanylate kinase-associated protein clustering  neuronal postsynaptic density  regulation of long-term synaptic potentiation  positive regulation of glutamate receptor signaling pathway  regulation of long term synaptic depression  positive regulation of excitatory postsynaptic membrane potential  positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity  
Pathways : KEGGGlutamatergic synapse   
REACTOMESHANK3
Protein Interaction DatabaseSHANK3
Wikipedia pathwaysSHANK3
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SHANK3
SNP (GeneSNP Utah)SHANK3
SNP : HGBaseSHANK3
Genetic variants : HAPMAPSHANK3
1000_GenomesSHANK3 
ICGC programENSG00000251322 
Somatic Mutations in Cancer : COSMICSHANK3 
CONAN: Copy Number AnalysisSHANK3 
Mutations and Diseases : HGMDSHANK3
OMIM606230    606232    613950   
GENETestsSHANK3
Disease Genetic AssociationSHANK3
Huge Navigator SHANK3 [HugePedia]  SHANK3 [HugeCancerGEM]
Genomic VariantsSHANK3  SHANK3 [DGVbeta]
Exome VariantSHANK3
dbVarSHANK3
ClinVarSHANK3
snp3D : Map Gene to Disease85358
General knowledge
Homologs : HomoloGeneSHANK3
Homology/Alignments : Family Browser (UCSC)SHANK3
Phylogenetic Trees/Animal Genes : TreeFamSHANK3
Chemical/Protein Interactions : CTD85358
Chemical/Pharm GKB GenePA37866
Clinical trialSHANK3
Cancer Resource (Charite)ENSG00000251322
Other databases
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
CoreMineSHANK3
iHOPSHANK3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Mar 31 09:40:38 CEST 2014

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