Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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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)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045211	postsynaptic membrane	cellular component	ISS	68
GO:0005886	plasma membrane	cellular component	ISS	360

GO terms by database search (count: 27)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007612	learning	biological process	IMP[20473310]	18
GO:0001917	photoreceptor inner segment	cellular component	ISS	3
GO:0030426	growth cone	cellular component	ISS	22
GO:0007613	memory	biological process	IEA	22
GO:0043005	neuron projection	cellular component	ISS	38
GO:0030534	adult behavior	biological process	IMP[20473310]	6
GO:0014069	postsynaptic density	cellular component	ISS	26
GO:0031526	brush border membrane	cellular component	ISS	5
GO:0030054	cell junction	cellular component	IEA	88
GO:0071625	vocalization behavior	biological process	IMP[20473310]	5
GO:0035176	social behavior	biological process	IMP[20473310]	17
GO:0017124	SH3 domain binding	molecular function	IEA	11
GO:0005515	protein binding	molecular function	IPI[11583995]	563
GO:0035255	ionotropic glutamate receptor binding	molecular function	ISS	8
GO:0060291	long-term synaptic potentiation	biological process	ISS[22699620]	14
GO:0035640	exploration behavior	biological process	IEA	4
GO:0030160	GKAP/Homer scaffold activity	molecular function	NAS[10506216]	1
GO:0016324	apical plasma membrane	cellular component	ISS	24
GO:0007416	synapse assembly	biological process	ISS[22699620]	8
GO:0005883	neurofilament	cellular component	ISS	4
GO:0005575	cellular_component	cellular component	ND	19
GO:0043025	neuronal cell body	cellular component	ISS	50
GO:0008328	ionotropic glutamate receptor complex	cellular component	ISS	6
GO:0060292	long term synaptic depression	biological process	ISS[22699620]	5
GO:0043197	dendritic spine	cellular component	ISS	21
GO:0001750	photoreceptor outer segment	cellular component	ISS	2
GO:0060170	ciliary membrane	cellular component	ISS	4

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

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

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
SHANK2	LPHN1	NO	in vitro;in vivo;yeast 2-hybrid	10964907 , 10958799
SHANK2	DLG4	NO	in vitro;yeast 2-hybrid	10527873
SHANK2	BAIAP2	NO	in vitro	12504591
SHANK2	CTTN	YES	in vitro;in vivo;yeast 2-hybrid	9742101
SHANK2	BAI2	NO	yeast 2-hybrid	10964907
SHANK2	DNM2	NO	in vitro;in vivo;yeast 2-hybrid	11583995
SHANK2	ARHGEF7	NO	in vitro;in vivo;yeast 2-hybrid	12626503
SHANK2	DLGAP1	YES	in vitro;yeast 2-hybrid	10527873
SHANK2	LPHN2	NO	in vitro;in vivo;yeast 2-hybrid	10964907
SHANK2	SSTR2	NO	in vitro;in vivo;yeast 2-hybrid	10373412 , 11087996

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs7119726	chr11:70612743 - 70612743(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Abdul Noor[2014]_33	chr11:69878242-70154458 (NCBI Build 36/hg18)	276000	11q13.3	duplication

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 11	chr11:0-135086622	2 (0/2/0)
11q14.3-11q21	chr11:22000000-97400000	1 (0/0/1)

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