Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SHANK2 (SH3 and multiple ankyrin repeat domains 2)

Identity

Alias_namesCORTBP1
cortactin binding protein 1
Alias_symbol (synonym)CTTNBP1
ProSAP1
SHANK
SPANK-3
Other aliasAUTS17
HGNC (Hugo) SHANK2
LocusID (NCBI) 22941
Atlas_Id 42992
Location 11q13.3  [Link to chromosome band 11q13]
Location_base_pair Starts at 70467856 and ends at 70661840 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARHGEF17 (11q13.4) / SHANK2 (11q13.3)GNA12 (7p22.3) / SHANK2 (11q13.3)RACK1 (5q35.3) / SHANK2 (11q13.3)
SHANK2 (11q13.3) / ANXA13 (8q24.13)SHANK2 (11q13.3) / ARHGEF17 (11q13.4)SHANK2 (11q13.3) / BDNF-AS (11p14.1)
SHANK2 (11q13.3) / C11orf49 (11p11.2)SHANK2 (11q13.3) / CPT1A (11q13.3)SHANK2 (11q13.3) / EFCAB6 (22q13.2)
SHANK2 (11q13.3) / HMGN2P46 (15q21.1)SHANK2 (11q13.3) / LRTOMT (11q13.4)SHANK2 (11q13.3) / MS4A8 (11q12.2)
SHANK2 (11q13.3) / NUMA1 (11q13.4)SHANK2 (11q13.3) / OPCML (11q25)SHANK2 (11q13.3) / PATL1 (11q12.1)
SHANK2 (11q13.3) / TACC1 (8p11.22)SHANK2 (11q13.3) / TFDP1 (13q34)SHANK2 (11q13.3) / U2SURP (3q23)
SHANK2 (11q13.3) / WNT11 (11q13.5)SHANK2 11q13.3 / ANXA13 8q24.13SHANK2 11q13.3 / ARHGEF17 11q13.4
SHANK2 11q13.3 / C11orf49 11p11.2SHANK2 11q13.3 / CPT1A 11q13.3SHANK2 11q13.3 / EFCAB6 22q13.2
SHANK2 11q13.3 / LRTOMT 11q13.4SHANK2 11q13.3 / NUMA1 11q13.4SHANK2 11q13.3 / OPCML 11q25
SHANK2 11q13.3 / PATL1 11q12.1SHANK2 11q13.3 / TACC1 8p11.22SHANK2 11q13.3 / WNT11 11q13.5

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 21 ]
  t(7;11)(p22;q13) GNA12/SHANK2
t(8;11)(p11;q13) SHANK2/TACC1
t(8;11)(q24;q13) SHANK2/ANXA13
t(11;11)(p11;q13) SHANK2/C11orf49
t(11;11)(p14;q13) SHANK2/BDNF-AS
t(11;11)(q12;q13) FADS1/SHANK2
t(11;11)(q12;q13) SHANK2/MS4A8
t(11;11)(q12;q13) SHANK2/PATL1
t(11;11)(q12;q13) SHANK2/MS4A8B
ARHGEF17/SHANK2 (11q13)
SHANK2/ACER3 (11q13)
SHANK2/ARHGEF17 (11q13)
SHANK2/CPT1A (11q13)
SHANK2/FCHSD2 (11q13)
SHANK2/LRTOMT (11q13)
SHANK2/NUMA1 (11q13)
SHANK2/WNT11 (11q13)
t(11;11)(q13;q14) SHANK2/TENM4
t(11;11)(q13;q25) SHANK2/OPCML
t(11;15)(q13;q21) SHANK2/HMGN2P46
t(11;22)(q13;q13) SHANK2/EFCAB6

External links

Nomenclature
HGNC (Hugo)SHANK2   14295
Cards
Entrez_Gene (NCBI)SHANK2  22941  SH3 and multiple ankyrin repeat domains 2
AliasesAUTS17; CORTBP1; CTTNBP1; ProSAP1; 
SHANK; SPANK-3
GeneCards (Weizmann)SHANK2
Ensembl hg19 (Hinxton)ENSG00000162105 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162105 [Gene_View]  ENSG00000162105 [Sequence]  chr11:70467856-70661840 [Contig_View]  SHANK2 [Vega]
ICGC DataPortalENSG00000162105
TCGA cBioPortalSHANK2
AceView (NCBI)SHANK2
Genatlas (Paris)SHANK2
WikiGenes22941
SOURCE (Princeton)SHANK2
Genetics Home Reference (NIH)SHANK2
Genomic and cartography
GoldenPath hg38 (UCSC)SHANK2  -     chr11:70467856-70661840 -  11q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SHANK2  -     11q13.3   [Description]    (hg19-Feb_2009)
GoldenPathSHANK2 - 11q13.3 [CytoView hg19]  SHANK2 - 11q13.3 [CytoView hg38]
ImmunoBaseENSG00000162105
Mapping of homologs : NCBISHANK2 [Mapview hg19]  SHANK2 [Mapview hg38]
OMIM603290   613436   
Gene and transcription
Genbank (Entrez)AA464273 AB028945 AB208025 AB208026 AB208027
RefSeq transcript (Entrez)NM_012309 NM_133266
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SHANK2
Cluster EST : UnigeneHs.268726 [ NCBI ]
CGAP (NCI)Hs.268726
Alternative Splicing GalleryENSG00000162105
Gene ExpressionSHANK2 [ NCBI-GEO ]   SHANK2 [ EBI - ARRAY_EXPRESS ]   SHANK2 [ SEEK ]   SHANK2 [ MEM ]
Gene Expression Viewer (FireBrowse)SHANK2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22941
GTEX Portal (Tissue expression)SHANK2
Human Protein AtlasENSG00000162105-SHANK2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UPX8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UPX8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UPX8
Splice isoforms : SwissVarQ9UPX8
PhosPhoSitePlusQ9UPX8
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)    SAM_DOMAIN (PS50105)    SH3 (PS50002)   
Domains : Interpro (EBI)PDZ    PDZ_sf    SAM    SAM/pointed_sf    SH3-like_dom_sf    SH3_domain   
Domain families : Pfam (Sanger)PDZ (PF00595)    SAM_1 (PF00536)    SH3_2 (PF07653)   
Domain families : Pfam (NCBI)pfam00595    pfam00536    pfam07653   
Domain families : Smart (EMBL)PDZ (SM00228)  SAM (SM00454)  SH3 (SM00326)  
Conserved Domain (NCBI)SHANK2
DMDM Disease mutations22941
Blocks (Seattle)SHANK2
SuperfamilyQ9UPX8
Human Protein Atlas [tissue]ENSG00000162105-SHANK2 [tissue]
Peptide AtlasQ9UPX8
HPRD04479
IPIIPI00929746   IPI00107633   IPI00939371   IPI00952742   IPI01011578   IPI00916114   IPI00915354   IPI00854885   IPI00796455   IPI00916764   IPI00916592   IPI00916363   IPI00916891   
Protein Interaction databases
DIP (DOE-UCLA)Q9UPX8
IntAct (EBI)Q9UPX8
FunCoupENSG00000162105
BioGRIDSHANK2
STRING (EMBL)SHANK2
ZODIACSHANK2
Ontologies - Pathways
QuickGOQ9UPX8
Ontology : AmiGOphotoreceptor outer segment  photoreceptor inner segment  protein binding  cellular_component  cytosol  neurofilament  plasma membrane  synapse assembly  synapse assembly  learning  ionotropic glutamate receptor complex  ionotropic glutamate receptor complex  postsynaptic density  postsynaptic density  apical plasma membrane  SH3 domain binding  cell junction  receptor signaling complex scaffold activity  GKAP/Homer scaffold activity  GKAP/Homer scaffold activity  dendrite  growth cone  adult behavior  brush border membrane  social behavior  ionotropic glutamate receptor binding  ionotropic glutamate receptor binding  neuron projection  neuron projection  neuronal cell body  dendritic spine  dendritic spine  neuron spine  postsynaptic membrane  postsynaptic membrane  brain morphogenesis  synaptic growth at neuromuscular junction  positive regulation of synaptic transmission, glutamatergic  ciliary membrane  long-term synaptic potentiation  long-term synaptic potentiation  long-term synaptic depression  dendritic spine morphogenesis  positive regulation of dendritic spine development  vocalization behavior  postsynaptic density assembly  regulation of AMPA receptor activity  positive regulation of excitatory postsynaptic potential  
Ontology : EGO-EBIphotoreceptor outer segment  photoreceptor inner segment  protein binding  cellular_component  cytosol  neurofilament  plasma membrane  synapse assembly  synapse assembly  learning  ionotropic glutamate receptor complex  ionotropic glutamate receptor complex  postsynaptic density  postsynaptic density  apical plasma membrane  SH3 domain binding  cell junction  receptor signaling complex scaffold activity  GKAP/Homer scaffold activity  GKAP/Homer scaffold activity  dendrite  growth cone  adult behavior  brush border membrane  social behavior  ionotropic glutamate receptor binding  ionotropic glutamate receptor binding  neuron projection  neuron projection  neuronal cell body  dendritic spine  dendritic spine  neuron spine  postsynaptic membrane  postsynaptic membrane  brain morphogenesis  synaptic growth at neuromuscular junction  positive regulation of synaptic transmission, glutamatergic  ciliary membrane  long-term synaptic potentiation  long-term synaptic potentiation  long-term synaptic depression  dendritic spine morphogenesis  positive regulation of dendritic spine development  vocalization behavior  postsynaptic density assembly  regulation of AMPA receptor activity  positive regulation of excitatory postsynaptic potential  
Pathways : KEGGGlutamatergic synapse   
NDEx NetworkSHANK2
Atlas of Cancer Signalling NetworkSHANK2
Wikipedia pathwaysSHANK2
Orthology - Evolution
OrthoDB22941
GeneTree (enSembl)ENSG00000162105
Phylogenetic Trees/Animal Genes : TreeFamSHANK2
HOGENOMQ9UPX8
Homologs : HomoloGeneSHANK2
Homology/Alignments : Family Browser (UCSC)SHANK2
Gene fusions - Rearrangements
Fusion : MitelmanARHGEF17/SHANK2 [11q13.4/11q13.3]  [t(11;11)(q13;q13)]  
Fusion : MitelmanGNA12/SHANK2 [7p22.3/11q13.3]  [t(7;11)(p22;q13)]  
Fusion : MitelmanSHANK2/ANXA13 [11q13.3/8q24.13]  [t(8;11)(q24;q13)]  
Fusion : MitelmanSHANK2/ARHGEF17 [11q13.3/11q13.4]  [t(11;11)(q13;q13)]  
Fusion : MitelmanSHANK2/BDNF-AS [11q13.3/11p14.1]  [t(11;11)(p14;q13)]  
Fusion : MitelmanSHANK2/C11orf49 [11q13.3/11p11.2]  [t(11;11)(p11;q13)]  
Fusion : MitelmanSHANK2/CPT1A [11q13.3/11q13.3]  [t(11;11)(q13;q13)]  
Fusion : MitelmanSHANK2/EFCAB6 [11q13.3/22q13.2]  [t(11;22)(q13;q13)]  
Fusion : MitelmanSHANK2/HMGN2P46 [11q13.3/15q21.1]  [t(11;15)(q13;q21)]  
Fusion : MitelmanSHANK2/LRTOMT [11q13.3/11q13.4]  [t(11;11)(q13;q13)]  
Fusion : MitelmanSHANK2/MS4A8 [11q13.3/11q12.2]  [t(11;11)(q12;q13)]  
Fusion : MitelmanSHANK2/NUMA1 [11q13.3/11q13.4]  [t(11;11)(q13;q13)]  
Fusion : MitelmanSHANK2/OPCML [11q13.3/11q25]  [t(11;11)(q13;q25)]  
Fusion : MitelmanSHANK2/PATL1 [11q13.3/11q12.1]  [t(11;11)(q12;q13)]  
Fusion : MitelmanSHANK2/TACC1 [11q13.3/8p11.22]  [t(8;11)(p11;q13)]  
Fusion : MitelmanSHANK2/WNT11 [11q13.3/11q13.5]  [t(11;11)(q13;q13)]  
Fusion PortalSHANK2 11q13.3 ANXA13 8q24.13 BRCA
Fusion PortalSHANK2 11q13.3 ARHGEF17 11q13.4 BRCA
Fusion PortalSHANK2 11q13.3 C11orf49 11p11.2 LUSC
Fusion PortalSHANK2 11q13.3 CPT1A 11q13.3 BRCA
Fusion PortalSHANK2 11q13.3 EFCAB6 22q13.2 LUAD
Fusion PortalSHANK2 11q13.3 LRTOMT 11q13.4 BLCA
Fusion PortalSHANK2 11q13.3 NUMA1 11q13.4 BRCA
Fusion PortalSHANK2 11q13.3 OPCML 11q25 BRCA
Fusion PortalSHANK2 11q13.3 PATL1 11q12.1 BRCA
Fusion PortalSHANK2 11q13.3 TACC1 8p11.22 BRCA
Fusion PortalSHANK2 11q13.3 WNT11 11q13.5 LUAD
Fusion : QuiverSHANK2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSHANK2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SHANK2
dbVarSHANK2
ClinVarSHANK2
1000_GenomesSHANK2 
Exome Variant ServerSHANK2
ExAC (Exome Aggregation Consortium)ENSG00000162105
GNOMAD BrowserENSG00000162105
Varsome BrowserSHANK2
Genetic variants : HAPMAP22941
Genomic Variants (DGV)SHANK2 [DGVbeta]
DECIPHERSHANK2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSHANK2 
Mutations
ICGC Data PortalSHANK2 
TCGA Data PortalSHANK2 
Broad Tumor PortalSHANK2
OASIS PortalSHANK2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSHANK2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSHANK2
Mutations and Diseases : HGMDSHANK2
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch SHANK2
DgiDB (Drug Gene Interaction Database)SHANK2
DoCM (Curated mutations)SHANK2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SHANK2 (select a term)
intoGenSHANK2
Cancer3DSHANK2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603290    613436   
Orphanet
DisGeNETSHANK2
MedgenSHANK2
Genetic Testing Registry SHANK2
NextProtQ9UPX8 [Medical]
TSGene22941
GENETestsSHANK2
Target ValidationSHANK2
Huge Navigator SHANK2 [HugePedia]
snp3D : Map Gene to Disease22941
BioCentury BCIQSHANK2
ClinGenSHANK2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22941
Chemical/Pharm GKB GenePA37867
Clinical trialSHANK2
Miscellaneous
canSAR (ICR)SHANK2 (select the gene name)
DataMed IndexSHANK2
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSHANK2
EVEXSHANK2
GoPubMedSHANK2
iHOPSHANK2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 18:07:18 CET 2019
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