ADHDgene Database

Gene Report

Basic Info

Approved Symbol	SV2C
Approved Name	synaptic vesicle glycoprotein 2C
Location	5q13
Position	chr5:75378997-75649764, +
External Links	HGNC: 30670 Entrez Gene: 22987 Ensembl: ENSG00000122012 UCSC: uc003kei.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Lesch[2011]_5	chr5:75590060-75782477 (NCBI Build 35 (hg17))	192417	5q13.3	Duplication	Paternal (affected)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 5)

ID	Name	Type	No. of Genes in ADHDgene
GO:0016021	integral to membrane	Cellular Component	845
GO:0006836	neurotransmitter transport	Biological Process	5
GO:0030054	cell junction	Cellular Component	77
GO:0022857	transmembrane transporter activity	Molecular Function	4
GO:0030672	synaptic vesicle membrane	Cellular Component	15

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04512	ECM-receptor interaction	13	The extracellular matrix (ECM) consists of a complex mixture...... The extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell and tissue structure and function. Specific interactions between cells and the ECM are mediated by transmembrane molecules, mainly integrins and perhaps also proteoglycans, CD36, or other cell-surface-associated components. These interactions lead to a direct or indirect control of cellular activities such as adhesion, migration, differentiation, proliferation, and apoptosis. In addition, integrins function as mechanoreceptors and provide a force-transmitting physical link between the ECM and the cytoskeleton. Integrins are a family of glycosylated, heterodimeric transmembrane adhesion receptors that consist of noncovalently bound alpha- and beta-subunits. More...

Genes shared at least 5 GO terms with SV2C (count: 0)

Genes shared at least 2 KEGG pathways with SV2C (count: 0)

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Region: chr5:75378997..75649764 View in gBrowse