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	CACNA1E
Previous Symbol	CACNL1A6
Symbol Alias	Cav2.3, BII, CACH6
Approved Name	calcium channel, voltage-dependent, R type, alpha 1E subunit
Location	1q25-q31
Position	chr1:181382238-181777219, +
External Links	HGNC: 1392 Entrez Gene: 777 Ensembl: ENSG00000198216 UCSC: uc001gow.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by PBA pathway; 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)
1q25.3	chr1:180300000-185800000	1 (1/0/0)

Gene related GO terms (count: 21)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005262	calcium channel activity	Molecular Function		40

GO terms by database search (count: 20)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0046872	metal ion binding	Molecular Function		170
GO:0048266	behavioral response to pain	Biological Process		4
GO:0050796	regulation of insulin secretion	Biological Process		22
GO:0051899	membrane depolarization	Biological Process		9
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	Biological Process		3
GO:0090273	regulation of somatostatin secretion	Biological Process		1
GO:0006810	transport	Biological Process	TAS[8071363]	62
GO:0007268	synaptic transmission	Biological Process		96
GO:0007626	locomotory behavior	Biological Process		24
GO:0008542	visual learning	Biological Process		12
GO:0019233	sensory perception of pain	Biological Process		17
GO:0030317	sperm motility	Biological Process		6
GO:0042593	glucose homeostasis	Biological Process		18
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0005891	voltage-gated calcium channel complex	Cellular Component		19
GO:0006112	energy reserve metabolic process	Biological Process		25
GO:0005886	plasma membrane	Cellular Component		772
GO:0002027	regulation of heart rate	Biological Process		5
GO:0005245	voltage-gated calcium channel activity	Molecular Function	IDA[8071363]	22
GO:0001662	behavioral fear response	Biological Process		7

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04930	Type II diabetes mellitus	14	Insulin resistance is strongly associated with type II diabe...... Insulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Serine/threonine phosphorylation, interaction with SOCS, regulation of the expression, modification of the cellular localization, and degradation represent the molecular mechanisms stimulated by them. Various kinases (ERK, JNK, IKKbeta, PKCzeta, PKCtheta and mTOR) are involved in this process. More...
hsa04020	Calcium signaling pathway	63	Ca2+ that enters the cell from the outside is a principal so...... Ca2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this external source of signal Ca2+ by activating various entry channels with widely different properties. The voltage-operated channels (VOCs) are found in excitable cells and generate the rapid Ca2+ fluxes that control fast cellular processes. There are many other Ca2+-entry channels, such as the receptor-operated channels (ROCs), for example the NMDA (N-methyl-D-aspartate) receptors (NMDARs) that respond to glutamate. There also are second-messenger-operated channels (SMOCs) and store-operated channels (SOCs). More...
hsa04010	MAPK signaling pathway	69	The mitogen-activated protein kinase (MAPK) cascade is a hig...... The mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals express at least four distinctly regulated groups of MAPKs, extracellular signal-related kinases (ERK)-1/2, Jun amino-terminal kinases (JNK1/2/3), p38 proteins (p38alpha/beta/gamma/delta) and ERK5, that are activated by specific MAPKKs: MEK1/2 for ERK1/2, MKK3/6 for the p38, MKK4/7 (JNKK1/2) for the JNKs, and MEK5 for ERK5. Each MAPKK, however, can be activated by more than one MAPKKK, increasing the complexity and diversity of MAPK signalling. Presumably each MAPKKK confers responsiveness to distinct stimuli. For example, activation of ERK1/2 by growth factors depends on the MAPKKK c-Raf, but other MAPKKKs may activate ERK1/2 in response to pro-inflammatory stimuli. More...

Genes shared at least 5 GO terms with CACNA1E (count: 21)

Gene Symbol	Pathway Count	Pathway List
CACNA1C	11	metal ion binding; regulation of insulin secretion; synaptic transmission; visual learning; glucose homeostasis; small molecule metabolic process; voltage-gated calcium channel complex; energy reserve metabolic process; calcium channel activity; plasma membrane; voltage-gated calcium channel activity;
CACNA1A	10	metal ion binding; regulation of insulin secretion; membrane depolarization; synaptic transmission; small molecule metabolic process; voltage-gated calcium channel complex; energy reserve metabolic process; calcium channel activity; plasma membrane; voltage-gated calcium channel activity;
CACNA1B	8	metal ion binding; membrane depolarization; transport; synaptic transmission; voltage-gated calcium channel complex; calcium channel activity; plasma membrane; voltage-gated calcium channel activity;
CACNA1D	8	metal ion binding; regulation of insulin secretion; small molecule metabolic process; voltage-gated calcium channel complex; energy reserve metabolic process; calcium channel activity; plasma membrane; voltage-gated calcium channel activity;
CACNB4	7	membrane depolarization; transport; synaptic transmission; voltage-gated calcium channel complex; calcium channel activity; plasma membrane; voltage-gated calcium channel activity;
CACNG2	7	membrane depolarization; transport; synaptic transmission; voltage-gated calcium channel complex; calcium channel activity; plasma membrane; voltage-gated calcium channel activity;
CACNG4	7	membrane depolarization; transport; synaptic transmission; voltage-gated calcium channel complex; calcium channel activity; plasma membrane; voltage-gated calcium channel activity;
GRIN2B	6	behavioral response to pain; transport; synaptic transmission; calcium channel activity; plasma membrane; behavioral fear response;
CACNB3	6	membrane depolarization; transport; synaptic transmission; voltage-gated calcium channel complex; calcium channel activity; voltage-gated calcium channel activity;
GRIN2A	6	transport; synaptic transmission; visual learning; sensory perception of pain; calcium channel activity; plasma membrane;
ADCY4	5	metal ion binding; synaptic transmission; small molecule metabolic process; energy reserve metabolic process; plasma membrane;
CACNA1S	5	metal ion binding; voltage-gated calcium channel complex; calcium channel activity; plasma membrane; voltage-gated calcium channel activity;
ADRA2A	5	regulation of insulin secretion; glucose homeostasis; small molecule metabolic process; energy reserve metabolic process; plasma membrane;
ITPR2	5	regulation of insulin secretion; transport; small molecule metabolic process; energy reserve metabolic process; plasma membrane;
SNAP25	5	regulation of insulin secretion; synaptic transmission; small molecule metabolic process; energy reserve metabolic process; plasma membrane;
STX1A	5	regulation of insulin secretion; synaptic transmission; small molecule metabolic process; energy reserve metabolic process; plasma membrane;
VAMP2	5	regulation of insulin secretion; synaptic transmission; small molecule metabolic process; energy reserve metabolic process; plasma membrane;
CHRNA4	5	membrane depolarization; synaptic transmission; locomotory behavior; sensory perception of pain; plasma membrane;
CACNA1G	5	transport; synaptic transmission; voltage-gated calcium channel complex; calcium channel activity; regulation of heart rate;
CACNB2	5	transport; synaptic transmission; voltage-gated calcium channel complex; calcium channel activity; voltage-gated calcium channel activity;
DBH	5	synaptic transmission; locomotory behavior; visual learning; glucose homeostasis; small molecule metabolic process;

Genes shared at least 2 KEGG pathways with CACNA1E (count: 14)

Gene Symbol	Pathway Count	Pathway List
CACNA1A	3	Type II diabetes mellitus; Calcium signaling pathway; MAPK signaling pathway;
CACNA1B	3	Type II diabetes mellitus; Calcium signaling pathway; MAPK signaling pathway;
CACNA1C	3	Type II diabetes mellitus; Calcium signaling pathway; MAPK signaling pathway;
CACNA1D	3	Type II diabetes mellitus; Calcium signaling pathway; MAPK signaling pathway;
CACNA1G	3	Type II diabetes mellitus; Calcium signaling pathway; MAPK signaling pathway;
MAPK1	2	Type II diabetes mellitus; MAPK signaling pathway;
MAPK3	2	Type II diabetes mellitus; MAPK signaling pathway;
MAPK9	2	Type II diabetes mellitus; MAPK signaling pathway;
CACNA1F	2	Calcium signaling pathway; MAPK signaling pathway;
CACNA1H	2	Calcium signaling pathway; MAPK signaling pathway;
CACNA1I	2	Calcium signaling pathway; MAPK signaling pathway;
CACNA1S	2	Calcium signaling pathway; MAPK signaling pathway;
PPP3R2	2	Calcium signaling pathway; MAPK signaling pathway;
PRKCB	2	Calcium signaling pathway; MAPK signaling pathway;

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Region: chr1:181382238..181777219 View in gBrowse