ENSG00000162105


Homo sapiens

Features
Gene ID: ENSG00000162105
  
Biological name :SHANK2
  
Synonyms : Q9UPX8 / SH3 and multiple ankyrin repeat domains 2 / SHANK2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q13.4
Gene start: 70467856
Gene end: 71252577
  
Corresponding Affymetrix probe sets: 1564377_at (Human Genome U133 Plus 2.0 Array)   213307_at (Human Genome U133 Plus 2.0 Array)   213308_at (Human Genome U133 Plus 2.0 Array)   215829_at (Human Genome U133 Plus 2.0 Array)   215830_at (Human Genome U133 Plus 2.0 Array)   243681_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000392674
Ensembl peptide - ENSP00000493501
Ensembl peptide - ENSP00000483920
Ensembl peptide - ENSP00000482553
Ensembl peptide - ENSP00000476264
Ensembl peptide - ENSP00000469689
Ensembl peptide - ENSP00000414876
Ensembl peptide - ENSP00000402944
Ensembl peptide - ENSP00000399423
Ensembl peptide - ENSP00000394939
Ensembl peptide - ENSP00000345193
Ensembl peptide - ENSP00000349694
Ensembl peptide - ENSP00000386491
Ensembl peptide - ENSP00000387324
Ensembl peptide - ENSP00000390636
Ensembl peptide - ENSP00000391570
NCBI entrez gene - 22941     See in Manteia.
OMIM - 603290
RefSeq - NM_133266
RefSeq - XM_017017390
RefSeq - XM_017017389
RefSeq - NM_012309
RefSeq - XM_005277932
RefSeq - XM_017017387
RefSeq - XM_017017388
RefSeq Peptide - NP_573573
RefSeq Peptide - NP_036441
swissprot - H7BZV1
swissprot - E7EX50
swissprot - H7C1X5
swissprot - Q9UPX8
swissprot - H7C027
swissprot - E7EUA2
swissprot - C9JFP8
swissprot - B7ZKU9
swissprot - A6NHU9
swissprot - A0A0A0MSQ6
swissprot - A0A087X158
swissprot - A0A087WZC6
swissprot - H0Y7S5
swissprot - H7BZP8
Ensembl - ENSG00000162105
  
Related genetic diseases (OMIM): 613436 - {Autism susceptibility 17}, 613436
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 shank2ENSDARG00000062325Danio rerio
 ENSGALG00000035916Gallus gallus
 ENSGALG00000038779Gallus gallus
 Q80Z38ENSMUSG00000037541Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9Y566 / SHANK1 / SH3 and multiple ankyrin repeat domains 1ENSG0000016168139
SHANK3 / SH3 and multiple ankyrin repeat domains 3ENSG0000025132239


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR001478  PDZ domain
 IPR001660  Sterile alpha motif domain
 IPR002110  Ankyrin repeat
 IPR013761  Sterile alpha motif/pointed domain superfamily
 IPR020683  Ankyrin repeat-containing domain
 IPR032425  Talin, N-terminal F0 domain
 IPR036028  SH3-like domain superfamily
 IPR036034  PDZ superfamily
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007416 synapse assembly ISS
 biological_processGO:0007612 learning IMP
 biological_processGO:0007613 memory IEA
 biological_processGO:0030534 adult behavior IMP
 biological_processGO:0035176 social behavior IMP
 biological_processGO:0035640 exploration behavior IEA
 biological_processGO:0051968 positive regulation of synaptic transmission, glutamatergic IEA
 biological_processGO:0060291 long-term synaptic potentiation ISS
 biological_processGO:0060292 long term synaptic depression ISS
 biological_processGO:0071625 vocalization behavior IMP
 cellular_componentGO:0001750 photoreceptor outer segment ISS
 cellular_componentGO:0001917 photoreceptor inner segment ISS
 cellular_componentGO:0005575 cellular_component ND
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005883 neurofilament ISS
 cellular_componentGO:0005886 plasma membrane ISS
 cellular_componentGO:0008328 ionotropic glutamate receptor complex ISS
 cellular_componentGO:0014069 postsynaptic density ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016324 apical plasma membrane ISS
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030426 growth cone ISS
 cellular_componentGO:0031526 brush border membrane ISS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection ISS
 cellular_componentGO:0043025 neuronal cell body ISS
 cellular_componentGO:0043197 dendritic spine ISS
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane ISS
 cellular_componentGO:0060170 ciliary membrane ISS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0017124 SH3 domain binding IEA
 molecular_functionGO:0030160 GKAP/Homer scaffold activity NAS
 molecular_functionGO:0035255 ionotropic glutamate receptor binding ISS


Pathways (from Reactome)
Pathway description
Neurexins and neuroligins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000170579 DLGAP1 / O14490 / DLG associated protein 1  / reaction / complex
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / complex / reaction
 ENSG00000116544 DLGAP3 / O95886 / DLG associated protein 3  / complex / reaction
 ENSG00000150672 DLG2 / Q15700 / discs large MAGUK scaffold protein 2  / reaction / complex
 ENSG00000136279 DBNL / Q9UJU6 / drebrin like  / reaction / complex
 ENSG00000051128 HOMER3 / Q9NSC5 / homer scaffolding protein 3  / reaction / complex
 ENSG00000080845 DLGAP4 / Q9Y2H0 / DLG associated protein 4  / complex / reaction
 ENSG00000198010 DLGAP2 / Q9P1A6 / DLG associated protein 2  / reaction / complex
 ENSG00000082458 DLG3 / Q92796 / discs large MAGUK scaffold protein 3  / reaction / complex
 ENSG00000152822 GRM1 / Q13255 / glutamate metabotropic receptor 1  / complex / reaction
 ENSG00000168959 GRM5 / P41594 / glutamate metabotropic receptor 5  / complex / reaction
 ENSG00000152413 HOMER1 / Q86YM7 / homer scaffolding protein 1  / complex / reaction
 ENSG00000103942 HOMER2 / Q9NSB8 / homer scaffolding protein 2  / reaction / complex
 ENSG00000179526 Q9H0F6 / SHARPIN / SHANK associated RH domain interactor  / reaction / complex






 

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