ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

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	chr11:70313961-70963623, -
External Links	HGNC: 14295 Entrez Gene: 22941 Ensembl: ENSG00000162105 UCSC: uc001oqc.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 15)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0060170	cilium membrane	Cellular Component		5
GO:0045211	postsynaptic membrane	Cellular Component		41
GO:0043197	dendritic spine	Cellular Component		12
GO:0043005	neuron projection	Cellular Component		35
GO:0005515	protein binding	Molecular Function	IPI[17474147]	910
GO:0005575	cellular_component	Cellular Component		98
GO:0005737	cytoplasm	Cellular Component		690
GO:0005886	plasma membrane	Cellular Component		772
GO:0008328	ionotropic glutamate receptor complex	Cellular Component		2
GO:0014069	postsynaptic density	Cellular Component		23
GO:0017124	SH3 domain binding	Molecular Function		22
GO:0030054	cell junction	Cellular Component		77
GO:0030160	GKAP/Homer scaffold activity	Molecular Function	NAS[10506216]	1
GO:0035255	ionotropic glutamate receptor binding	Molecular Function		6
GO:0035556	intracellular signal transduction	Biological Process		44

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04724	Glutamatergic synapse	43	Glutamate is the major excitatory neurotransmitter in the ma...... Glutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synaptic cleft, glutamate acts on postsynaptic ionotropic glutamate receptors (iGluRs) to mediate fast excitatory synaptic transmission. Glutamate can also act on metabotropic glutamate receptors (mGluRs) and exert a variety of modulatory effects through their coupling to G proteins and the subsequent recruitment of second messenger systems. Presynaptically localized Group II and Group III mGluRs are thought to represent the classical inhibitory autoreceptor mechanism that suppresses excess glutamate release. After its action on these receptors, glutamate can be removed from the synaptic cleft by EAATs located either on the presynaptic terminal, neighboring glial cells, or the postsynaptic neuron. In glia, glutamate is converted to glutamine, which is then transported back to the presynaptic terminal and converted back to glutamate. More...

Genes shared at least 5 GO terms with SHANK2 (count: 14)

Gene Symbol	Pathway Count	Pathway List
CNIH2	6	postsynaptic membrane; dendritic spine; protein binding; postsynaptic density; cell junction; intracellular signal transduction;
GOPC	6	postsynaptic membrane; protein binding; cytoplasm; plasma membrane; postsynaptic density; cell junction;
GRIN2B	6	postsynaptic membrane; neuron projection; protein binding; plasma membrane; postsynaptic density; cell junction;
GSK3B	6	dendritic spine; protein binding; cytoplasm; plasma membrane; ionotropic glutamate receptor binding; intracellular signal transduction;
BAIAP2	6	neuron projection; protein binding; cytoplasm; plasma membrane; SH3 domain binding; cell junction;
ARHGAP32	5	postsynaptic membrane; protein binding; plasma membrane; postsynaptic density; cell junction;
ARRB2	5	postsynaptic membrane; protein binding; cytoplasm; plasma membrane; postsynaptic density;
DLG2	5	postsynaptic membrane; protein binding; plasma membrane; postsynaptic density; cell junction;
GABBR2	5	postsynaptic membrane; neuron projection; cytoplasm; plasma membrane; cell junction;
GRID2	5	postsynaptic membrane; dendritic spine; plasma membrane; ionotropic glutamate receptor complex; cell junction;
GRIN2A	5	postsynaptic membrane; protein binding; plasma membrane; postsynaptic density; cell junction;
GRIN3A	5	postsynaptic membrane; neuron projection; protein binding; postsynaptic density; cell junction;
RAPSN	5	postsynaptic membrane; cytoplasm; plasma membrane; cell junction; ionotropic glutamate receptor binding;
SNAP25	5	neuron projection; protein binding; cytoplasm; plasma membrane; cell junction;

Genes shared at least 2 KEGG pathways with SHANK2 (count: 0)

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Region: chr11:70313961..70963623 View in gBrowse