ADHDgene Database

Gene Report

Basic Info

Approved Symbol	TPCN2
Symbol Alias	TPC2
Approved Name	two pore segment channel 2
Location	11q13.1
Position	chr11:68816350-68858072, +
External Links	HGNC: 20820 Entrez Gene: 219931 Ensembl: ENSG00000162341 UCSC: uc001oos.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_41	chr11:67841909-69060612 (NCBI Build 36.1 (hg18))	1167044	11q13.2	Gain

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: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0042802	identical protein binding	Molecular Function		70
GO:0051209	release of sequestered calcium ion into cytosol	Biological Process		9
GO:0072345	NAADP-sensitive calcium-release channel activity	Molecular Function	IDA[19620632]	1
GO:0005245	voltage-gated calcium channel activity	Molecular Function		22
GO:0005515	protein binding	Molecular Function		910
GO:0005765	lysosomal membrane	Cellular Component	IDA[19620632]	17
GO:0006874	cellular calcium ion homeostasis	Biological Process	IDA[19387438]	16
GO:0006939	smooth muscle contraction	Biological Process		10
GO:0010008	endosome membrane	Cellular Component	IDA[19620632]	27
GO:0016021	integral to membrane	Cellular Component		845
GO:0019901	protein kinase binding	Molecular Function		51

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04972	Pancreatic secretion	30	The pancreas performs both exocrine and endocrine functions....... The pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesize and secrete digestive enzymes. Stimulation of the cell by secretagogues such as acetylcholine (ACh) and cholecystokinin (CCK) causes the generation of an intracellular Ca2+ signal. This signal, in turn, triggers the fusion of the zymogen granules with the apical plasma membrane, leading to the polarised secretion of the enzymes. The major task of pancreatic duct cells is the secretion of fluid and bicarbonate ions (HCO3-), which neutralize the acidity of gastric contents that enter the duodenum. An increase in intracellular cAMP by secretin is one of the major signals of pancreatic HCO3- secretion. Activation of the CFTR Cl- channel and the CFTR-dependent Cl-/HCO3- exchange activities is responsible for cAMP-induced HCO3- secretion. More...

Genes shared at least 5 GO terms with TPCN2 (count: 0)

Genes shared at least 2 KEGG pathways with TPCN2 (count: 0)

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Region: chr11:68816350..68858072 View in gBrowse