SHANK2 (SH3 and multiple ankyrin repeat domains 2)

2006-12-01  

Identity

HGNC
LOCATION
11q13.3
LOCUSID
ALIAS
AUTS17,CORTBP1,CTTNBP1,ProSAP1,SHANK,SPANK-3
FUSION GENES

Other Information

Locus ID:

NCBI: 22941
MIM: 603290
HGNC: 14295
Ensembl: ENSG00000162105

Variants:

dbSNP: 22941
ClinVar: 22941
TCGA: ENSG00000162105
COSMIC: SHANK2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162105ENST00000338508A6NHU9
ENSG00000162105ENST00000357171E7EX50
ENSG00000162105ENST00000409161E7EUA2
ENSG00000162105ENST00000412252H0Y7S5
ENSG00000162105ENST00000424924H7C1X5
ENSG00000162105ENST00000426687H7BZV1
ENSG00000162105ENST00000449833A0A0A0MSQ6
ENSG00000162105ENST00000468619A0A087X158
ENSG00000162105ENST00000601538Q9UPX8
ENSG00000162105ENST00000608988C9JFP8
ENSG00000162105ENST00000645599A0A2R8Y2H5
ENSG00000162105ENST00000654939A0A590UJF3
ENSG00000162105ENST00000656230Q9UPX8
ENSG00000162105ENST00000659264A0A590UJ45

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Pathways

PathwaySourceExternal ID
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
Neuronal SystemREACTOMER-HSA-112316
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
205314692010Functional impact of global rare copy number variation in autism spectrum disorders.778
226996192012Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2.200
204733102010Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.171
204733102010Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.171
223467682012Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.143
219947632012Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.40
162936182006Shank2 associates with and regulates Na+/H+ exchanger 3.25
255607582015Identification and functional characterization of rare SHANK2 variants in schizophrenia.22
270016142016Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.19
309111842019SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons.16

Citation

Dessen P

SHANK2 (SH3 and multiple ankyrin repeat domains 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-12-01

Online version: http://atlasgeneticsoncology.org/gene/42992/shank2