BDgene

Gene Report

Basic Info
Approved Symbol SHANK2
Previous Symbol CORTBP1
Symbol Alias CTTNBP1, ProSAP1, SHANK, SPANK-3
Approved Name SH3 and multiple ankyrin repeat domains 2
Previous Name cortactin binding protein 1
Location 11q13.2
Position chr11:70467856-71252577, -1
External Links HGNC: 14295
Entrez Gene: 22941
Ensembl: ENSG00000162105
UCSC: uc031xtx.1
No. of Studies 2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ? NO
Overlap with MDD? NO
Gene related studies (count: 2)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Noor A., 2014 In another case, we identified a 276 kb duplication encompassing several genes, including the seven 30-most exons of the SHANK2 gene(NM_012309). Positive Comment on Study
Djurovic, S.,2010 SNP: rs7119726 No significant association of this gene was observed in BD. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 29)

GO terms by PBA (count: 2)

GO terms by database search (count: 27)


Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 10)

Related other genetic factors
Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

LD-proxies (count: 0)


Gene related CNVs (count: 1)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Gene relationship with MDD

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Region: chr11:70467856..71252577 View in gBrowse
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