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SHANK2 (SH3 and multiple ankyrin repeat domains 2)

Identity

Alias (NCBI)AUTS17
CORTBP1
CTTNBP1
ProSAP1
SHANK
SPANK-3
HGNC (Hugo) SHANK2
HGNC Alias symbCTTNBP1
ProSAP1
SHANK
SPANK-3
HGNC Previous nameCORTBP1
HGNC Previous namecortactin binding protein 1
LocusID (NCBI) 22941
Atlas_Id 42992
Location 11q13.3  [Link to chromosome band 11q13]
Location_base_pair Starts at 70467855 and ends at 70661841 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

 



External links

 

Nomenclature
HGNC (Hugo)SHANK2   14295
Cards
Entrez_Gene (NCBI)SHANK2    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]  chr11:70467855-70661841 [Contig_View]  SHANK2 [Vega]
ICGC DataPortalENSG00000162105
TCGA cBioPortalSHANK2
AceView (NCBI)SHANK2
Genatlas (Paris)SHANK2
SOURCE (Princeton)SHANK2
Genetics Home Reference (NIH)SHANK2
Genomic and cartography
GoldenPath hg38 (UCSC)SHANK2  -     chr11:70467855-70661841 -  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
Genome Data Viewer NCBISHANK2 [Mapview hg19]  
OMIM603290   613436   
Gene and transcription
Genbank (Entrez)AA464273 AB028945 AB208025 AB208026 AB208027
RefSeq transcript (Entrez)NM_001379226 NM_012309 NM_133266
Consensus coding sequences : CCDS (NCBI)SHANK2
Gene ExpressionSHANK2 [ NCBI-GEO ]   SHANK2 [ EBI - ARRAY_EXPRESS ]   SHANK2 [ SEEK ]   SHANK2 [ MEM ]
Gene Expression Viewer (FireBrowse)SHANK2 [ Firebrowse - Broad ]
GenevisibleExpression of SHANK2 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
PhosPhoSitePlusQ9UPX8
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)    SAM_DOMAIN (PS50105)    SH3 (PS50002)   
Domains : Interpro (EBI)PDZ    PDZ_6    PDZ_sf    SAM    SAM/pointed_sf    SH3-like_dom_sf    SH3_domain   
Domain families : Pfam (Sanger)PDZ_6 (PF17820)    SAM_1 (PF00536)    SH3_2 (PF07653)   
Domain families : Pfam (NCBI)pfam17820    pfam00536    pfam07653   
Domain families : Smart (EMBL)PDZ (SM00228)  SAM (SM00454)  SH3 (SM00326)  
Conserved Domain (NCBI)SHANK2
SuperfamilyQ9UPX8
AlphaFold pdb e-kbQ9UPX8   
Human Protein Atlas [tissue]ENSG00000162105-SHANK2 [tissue]
HPRD04479
Protein Interaction databases
DIP (DOE-UCLA)Q9UPX8
IntAct (EBI)Q9UPX8
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  learning  positive regulation of cell population proliferation  postsynaptic density  postsynaptic density  apical plasma membrane  SH3 domain binding  synaptic receptor adaptor activity  synaptic receptor adaptor activity  growth cone  adult behavior  brush border membrane  social behavior  ionotropic glutamate receptor binding  ionotropic glutamate receptor binding  negative regulation of hippo signaling  neuron projection  neuronal cell body  dendritic spine  dendritic spine  postsynaptic membrane  postsynaptic membrane  ciliary membrane  long-term synaptic potentiation  long-term synaptic depression  vocalization behavior  
Ontology : EGO-EBIphotoreceptor outer segment  photoreceptor inner segment  protein binding  cellular_component  cytosol  neurofilament  plasma membrane  synapse assembly  learning  positive regulation of cell population proliferation  postsynaptic density  postsynaptic density  apical plasma membrane  SH3 domain binding  synaptic receptor adaptor activity  synaptic receptor adaptor activity  growth cone  adult behavior  brush border membrane  social behavior  ionotropic glutamate receptor binding  ionotropic glutamate receptor binding  negative regulation of hippo signaling  neuron projection  neuronal cell body  dendritic spine  dendritic spine  postsynaptic membrane  postsynaptic membrane  ciliary membrane  long-term synaptic potentiation  long-term synaptic depression  vocalization behavior  
Pathways : KEGGGlutamatergic synapse   
NDEx NetworkSHANK2
Atlas of Cancer Signalling NetworkSHANK2
Wikipedia pathwaysSHANK2
Orthology - Evolution
OrthoDB22941
GeneTree (enSembl)ENSG00000162105
Phylogenetic Trees/Animal Genes : TreeFamSHANK2
Homologs : HomoloGeneSHANK2
Homology/Alignments : Family Browser (UCSC)SHANK2
Gene fusions - Rearrangements
Fusion : MitelmanARHGEF17/SHANK2 [11q13.4/11q13.3]  
Fusion : MitelmanGNA12/SHANK2 [7p22.3/11q13.3]  
Fusion : MitelmanSHANK2/ANXA13 [11q13.3/8q24.13]  
Fusion : MitelmanSHANK2/ARHGEF17 [11q13.3/11q13.4]  
Fusion : MitelmanSHANK2/BDNF-AS [11q13.3/11p14.1]  
Fusion : MitelmanSHANK2/C11orf49 [11q13.3/11p11.2]  
Fusion : MitelmanSHANK2/CPT1A [11q13.3/11q13.3]  
Fusion : MitelmanSHANK2/EFCAB6 [11q13.3/22q13.2]  
Fusion : MitelmanSHANK2/HMGN2P46 [11q13.3/15q21.1]  
Fusion : MitelmanSHANK2/LRTOMT [11q13.3/11q13.4]  
Fusion : MitelmanSHANK2/MS4A8 [11q13.3/11q12.2]  
Fusion : MitelmanSHANK2/NUMA1 [11q13.3/11q13.4]  
Fusion : MitelmanSHANK2/OPCML [11q13.3/11q25]  
Fusion : MitelmanSHANK2/PATL1 [11q13.3/11q12.1]  
Fusion : MitelmanSHANK2/TACC1 [11q13.3/8p11.22]  
Fusion : MitelmanSHANK2/WNT11 [11q13.3/11q13.5]  
Fusion : QuiverSHANK2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSHANK2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SHANK2
dbVarSHANK2
ClinVarSHANK2
MonarchSHANK2
1000_GenomesSHANK2 
Exome Variant ServerSHANK2
GNOMAD BrowserENSG00000162105
Varsome BrowserSHANK2
ACMGSHANK2 variants
VarityQ9UPX8
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)[gene] [transcripts] [variants]
BioMutaSHANK2
DgiDB (Drug Gene Interaction Database)SHANK2
DoCM (Curated mutations)SHANK2
CIViC (Clinical Interpretations of Variants in Cancer)SHANK2
Cancer3DSHANK2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603290    613436   
Orphanet
DisGeNETSHANK2
MedgenSHANK2
Genetic Testing Registry SHANK2
NextProtQ9UPX8 [Medical]
GENETestsSHANK2
Target ValidationSHANK2
Huge Navigator SHANK2 [HugePedia]
ClinGenSHANK2
Clinical trials, drugs, therapy
MyCancerGenomeSHANK2
Protein Interactions : CTDSHANK2
Pharm GKB GenePA37867
PharosQ9UPX8
Clinical trialSHANK2
Miscellaneous
canSAR (ICR)SHANK2
HarmonizomeSHANK2
DataMed IndexSHANK2
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSHANK2
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 Oct 4 15:31:03 CEST 2021

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