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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
Atlas_Id 52234
Location 22q13.33  [Link to chromosome band 22q13]
Location_base_pair Starts at 51113070 and ends at 51171640 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
APPL2 (12q23.3) / SHANK3 (22q13.33)FBXO42 (1p36.13) / SHANK3 (22q13.33)MICB (6p21.33) / SHANK3 (22q13.33)
SHANK3 (22q13.33) / ACR (22q13.33)SHANK3 (22q13.33) / PLEKHA6 (1q32.1)SHANK3 (22q13.33) / PLXNB2 (22q13.33)
SHANK3 (22q13.33) / PPP6R2 (22q13.33)SHANK3 (22q13.33) / SH2D4A (8p21.3)SHANK3 (22q13.33) / SHANK3 (22q13.33)
SHANK3 (22q13.33) / TSNARE1 (8q24.3)SHANK3 22q13.33 / PLXNB2 22q13.33

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SHANK3   14294
Cards
Entrez_Gene (NCBI)SHANK3  85358  SH3 and multiple ankyrin repeat domains 3
AliasesDEL22q13.3; PROSAP2; PSAP2; SCZD15; 
SPANK-2
GeneCards (Weizmann)SHANK3
Ensembl hg19 (Hinxton)ENSG00000251322 [Gene_View]  chr22:51113070-51171640 [Contig_View]  SHANK3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000251322 [Gene_View]  chr22:51113070-51171640 [Contig_View]  SHANK3 [Vega]
ICGC DataPortalENSG00000251322
TCGA cBioPortalSHANK3
AceView (NCBI)SHANK3
Genatlas (Paris)SHANK3
WikiGenes85358
SOURCE (Princeton)SHANK3
Genomic and cartography
GoldenPath hg19 (UCSC)SHANK3  -     chr22:51113070-51171640 +  22q13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SHANK3  -     22q13.33   [Description]    (hg38-Dec_2013)
EnsemblSHANK3 - 22q13.33 [CytoView hg19]  SHANK3 - 22q13.33 [CytoView hg38]
Mapping of homologs : NCBISHANK3 [Mapview hg19]  SHANK3 [Mapview hg38]
OMIM606230   606232   613950   
Gene and transcription
Genbank (Entrez)AB051437 AB569469 AK074038 BC018856 BC045765
RefSeq transcript (Entrez)NM_001080420 NM_033517
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_008607 NT_011526 NW_004929431
Consensus coding sequences : CCDS (NCBI)SHANK3
Cluster EST : UnigeneHs.149035 [ NCBI ]
CGAP (NCI)Hs.149035
Alternative Splicing GalleryENSG00000251322
Gene ExpressionSHANK3 [ NCBI-GEO ]   SHANK3 [ EBI - ARRAY_EXPRESS ]   SHANK3 [ SEEK ]   SHANK3 [ MEM ]
Gene Expression Viewer (FireBrowse)SHANK3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)85358
GTEX Portal (Tissue expression)SHANK3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BYB0 (Uniprot)
NextProtQ9BYB0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BYB0
Splice isoforms : SwissVarQ9BYB0 (Swissvar)
PhosPhoSitePlusQ9BYB0
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    FERM_f0    PDZ    SAM    SAM/pointed    SH3_2    SH3_domain   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    FERM_f0 (PF16511)    PDZ (PF00595)    SAM_1 (PF00536)    SH3_2 (PF07653)   
Domain families : Pfam (NCBI)pfam12796    pfam16511    pfam00595    pfam00536    pfam07653   
Domain families : Smart (EMBL)ANK (SM00248)  PDZ (SM00228)  SAM (SM00454)  SH3 (SM00326)  
DMDM Disease mutations85358
Blocks (Seattle)SHANK3
SuperfamilyQ9BYB0
Human Protein AtlasENSG00000251322
Peptide AtlasQ9BYB0
IPIIPI00847618   IPI00872262   IPI00440952   IPI00019794   IPI00977226   
Protein Interaction databases
DIP (DOE-UCLA)Q9BYB0
IntAct (EBI)Q9BYB0
FunCoupENSG00000251322
BioGRIDSHANK3
STRING (EMBL)SHANK3
ZODIACSHANK3
Ontologies - Pathways
QuickGOQ9BYB0
Ontology : AmiGOMAPK cascade  actin binding  protein binding  cytoplasm  plasma membrane  synapse assembly  learning  learning  memory  protein C-terminus binding  zinc ion binding  SH3 domain binding  striatal medium spiny neuron differentiation  cell junction  GKAP/Homer scaffold activity  adult behavior  negative regulation of actin filament bundle assembly  social behavior  social behavior  ionotropic glutamate receptor binding  vocal learning  identical protein binding  neuron projection  dendritic spine  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  ciliary membrane  dendritic spine morphogenesis  positive regulation of dendritic spine development  regulation of dendritic spine morphogenesis  vocalization behavior  vocalization behavior  postsynaptic density assembly  scaffold protein binding  AMPA glutamate receptor clustering  NMDA glutamate receptor clustering  guanylate kinase-associated protein clustering  neuronal postsynaptic density  regulation of long-term synaptic potentiation  positive regulation of long-term synaptic potentiation  positive regulation of glutamate receptor signaling pathway  regulation of long term synaptic depression  positive regulation of excitatory postsynaptic potential  positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity  
Ontology : EGO-EBIMAPK cascade  actin binding  protein binding  cytoplasm  plasma membrane  synapse assembly  learning  learning  memory  protein C-terminus binding  zinc ion binding  SH3 domain binding  striatal medium spiny neuron differentiation  cell junction  GKAP/Homer scaffold activity  adult behavior  negative regulation of actin filament bundle assembly  social behavior  social behavior  ionotropic glutamate receptor binding  vocal learning  identical protein binding  neuron projection  dendritic spine  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  ciliary membrane  dendritic spine morphogenesis  positive regulation of dendritic spine development  regulation of dendritic spine morphogenesis  vocalization behavior  vocalization behavior  postsynaptic density assembly  scaffold protein binding  AMPA glutamate receptor clustering  NMDA glutamate receptor clustering  guanylate kinase-associated protein clustering  neuronal postsynaptic density  regulation of long-term synaptic potentiation  positive regulation of long-term synaptic potentiation  positive regulation of glutamate receptor signaling pathway  regulation of long term synaptic depression  positive regulation of excitatory postsynaptic potential  positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity  
Pathways : KEGGGlutamatergic synapse   
NDEx NetworkSHANK3
Atlas of Cancer Signalling NetworkSHANK3
Wikipedia pathwaysSHANK3
Orthology - Evolution
OrthoDB85358
GeneTree (enSembl)ENSG00000251322
Phylogenetic Trees/Animal Genes : TreeFamSHANK3
Homologs : HomoloGeneSHANK3
Homology/Alignments : Family Browser (UCSC)SHANK3
Gene fusions - Rearrangements
Fusion: TCGASHANK3 22q13.33 PLXNB2 22q13.33 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerSHANK3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SHANK3
dbVarSHANK3
ClinVarSHANK3
1000_GenomesSHANK3 
Exome Variant ServerSHANK3
ExAC (Exome Aggregation Consortium)SHANK3 (select the gene name)
Genetic variants : HAPMAP85358
Genomic Variants (DGV)SHANK3 [DGVbeta]
Mutations
ICGC Data PortalSHANK3 
TCGA Data PortalSHANK3 
Broad Tumor PortalSHANK3
OASIS PortalSHANK3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSHANK3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SHANK3
DgiDB (Drug Gene Interaction Database)SHANK3
DoCM (Curated mutations)SHANK3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SHANK3 (select a term)
intoGenSHANK3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)22:51113070-51171640  ENSG00000251322
CONAN: Copy Number AnalysisSHANK3 
Mutations and Diseases : HGMDSHANK3
OMIM606230    606232    613950   
MedgenSHANK3
Genetic Testing Registry SHANK3
NextProtQ9BYB0 [Medical]
TSGene85358
GENETestsSHANK3
Huge Navigator SHANK3 [HugePedia]
snp3D : Map Gene to Disease85358
BioCentury BCIQSHANK3
ClinGenSHANK3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD85358
Chemical/Pharm GKB GenePA37866
Clinical trialSHANK3
Miscellaneous
canSAR (ICR)SHANK3 (select the gene name)
Probes
Litterature
PubMed88 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSHANK3
EVEXSHANK3
GoPubMedSHANK3
iHOPSHANK3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 19 19:13:03 CEST 2016

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