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	CACNA1B
Previous Symbol	CACNL1A5
Symbol Alias	Cav2.2, CACNN
Approved Name	calcium channel, voltage-dependent, N type, alpha 1B subunit
Location	9q34
Position	chr9:140772241-141019076, +
External Links	HGNC: 1389 Entrez Gene: 774 Ensembl: ENSG00000148408 UCSC: uc004cog.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by PBA pathway

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: 0)

Gene related GO terms (count: 11)

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: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005524	ATP binding	Molecular Function		228
GO:0005886	plasma membrane	Cellular Component		772
GO:0005515	protein binding	Molecular Function		910
GO:0007268	synaptic transmission	Biological Process		96
GO:0008022	protein C-terminus binding	Molecular Function	IPI[15728831]	32
GO:0005891	voltage-gated calcium channel complex	Cellular Component		19
GO:0006810	transport	Biological Process	TAS[1321501]	62
GO:0046872	metal ion binding	Molecular Function		170
GO:0051899	membrane depolarization	Biological Process		9
GO:0005245	voltage-gated calcium channel activity	Molecular Function		22

Gene related KEGG pathways (count: 4)

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...
hsa04742	Taste transduction	7	All taste pathways are proposed to converge on common elemen...... All taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na+ through the amiloride-sensitive Na+ channel (ENaC). Acids depolarize taste cells by a variety of mechanisms, including influx of protons (H+) through ENaC and a proton-gated cation channel (MDEG). Two putative umami receptors have been identified: a truncated variant of the metabotropic glutamate receptor mGluR4 and the heterodimer, T1R1 + T1R3. Umami receptors are coupled to a signaling pathway involving activation of PLCbeta2, production of IP3 and diacylglycerol, release of Ca2+ from intracellular stores and activation of a transient receptor potential channel, TRPM5. Bitter compounds, such as denatonium and PROP, activate particular T2R/TRB isoforms, which activate gustducin heterotrimers. Activated alpha-gustducin stimulates PDE to hydrolyze cAMP, whereas betagamma subunits activate PLCbeta2 to generate IP3, which leads to release of Ca2+ from internal stores. Artificial sweeteners activate GPCRs (T1R heterodimers) apparently linked via PLC to IP3 production and release of Ca2+ from intracellular stores. Sugars apparently activate GPCRs linked via AC to cAMP production which, in turn, may inhibit basolateral K+ channels through phosphorylation by cAMP-activated protein kinase A (PKA). 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 CACNA1B (count: 13)

Gene Symbol	Pathway Count	Pathway List
CACNA1A	8	plasma membrane; calcium channel activity; protein binding; synaptic transmission; voltage-gated calcium channel complex; metal ion binding; membrane depolarization; voltage-gated calcium channel activity;
CACNA1E	8	plasma membrane; calcium channel activity; synaptic transmission; voltage-gated calcium channel complex; transport; metal ion binding; membrane depolarization; voltage-gated calcium channel activity;
CACNB4	8	plasma membrane; calcium channel activity; protein binding; synaptic transmission; voltage-gated calcium channel complex; transport; membrane depolarization; voltage-gated calcium channel activity;
CACNG2	8	plasma membrane; calcium channel activity; protein binding; synaptic transmission; voltage-gated calcium channel complex; transport; membrane depolarization; voltage-gated calcium channel activity;
CACNA1C	7	plasma membrane; calcium channel activity; protein binding; synaptic transmission; voltage-gated calcium channel complex; metal ion binding; voltage-gated calcium channel activity;
CACNG4	7	plasma membrane; calcium channel activity; synaptic transmission; voltage-gated calcium channel complex; transport; membrane depolarization; voltage-gated calcium channel activity;
CACNB2	6	calcium channel activity; protein binding; synaptic transmission; voltage-gated calcium channel complex; transport; voltage-gated calcium channel activity;
CACNB3	6	calcium channel activity; synaptic transmission; voltage-gated calcium channel complex; transport; membrane depolarization; voltage-gated calcium channel activity;
ADCY4	5	ATP binding; plasma membrane; protein binding; synaptic transmission; metal ion binding;
CACNA1D	5	plasma membrane; calcium channel activity; voltage-gated calcium channel complex; metal ion binding; voltage-gated calcium channel activity;
CACNA1S	5	plasma membrane; calcium channel activity; voltage-gated calcium channel complex; metal ion binding; voltage-gated calcium channel activity;
GRIN2A	5	plasma membrane; calcium channel activity; protein binding; synaptic transmission; transport;
GRIN2B	5	plasma membrane; calcium channel activity; protein binding; synaptic transmission; transport;

Genes shared at least 2 KEGG pathways with CACNA1B (count: 16)

Gene Symbol	Pathway Count	Pathway List
CACNA1A	4	Type II diabetes mellitus; Calcium signaling pathway; Taste transduction; 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;
CACNA1E	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;
ADCY4	2	Calcium signaling pathway; Taste transduction;
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;
PLCB2	2	Calcium signaling pathway; Taste transduction;
PPP3R2	2	Calcium signaling pathway; MAPK signaling pathway;
PRKCB	2	Calcium signaling pathway; MAPK signaling pathway;

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Region: chr9:140772241..141019076 View in gBrowse