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	CACNA1H
Symbol Alias	Cav3.2
Approved Name	calcium channel, voltage-dependent, T type, alpha 1H subunit
Location	16p13.3
Position	chr16:1203241-1271772, +
External Links	HGNC: 1395 Entrez Gene: 8912 Ensembl: ENSG00000196557 UCSC: uc002cks.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: 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:0007411	axon guidance	Biological Process		65
GO:0007517	muscle organ development	Biological Process	NAS[9670923]	16
GO:0006810	transport	Biological Process	TAS[9670923]	62
GO:0006936	muscle contraction	Biological Process	TAS[9670923]	18
GO:0008332	low voltage-gated calcium channel activity	Molecular Function		3
GO:0016021	integral to membrane	Cellular Component		845
GO:0007520	myoblast fusion	Biological Process	TAS[10861024]	6
GO:0008016	regulation of heart contraction	Biological Process	TAS[9670923]	8
GO:0005891	voltage-gated calcium channel complex	Cellular Component		19
GO:0005901	caveola	Cellular Component		12
GO:2000344	positive regulation of acrosome reaction	Biological Process		2
GO:0097110	scaffold protein binding	Molecular Function		6
GO:0035865	cellular response to potassium ion	Biological Process	IEP[19342457]	1
GO:0034651	cortisol biosynthetic process	Biological Process	IMP[19342457]	1
GO:0032870	cellular response to hormone stimulus	Biological Process	IEP[19342457]	7
GO:0032342	aldosterone biosynthetic process	Biological Process	IMP[19342457]	1
GO:0070509	calcium ion import	Biological Process		6
GO:0046872	metal ion binding	Molecular Function		170
GO:0042391	regulation of membrane potential	Biological Process		9
GO:0042383	sarcolemma	Cellular Component		11

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
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 CACNA1H (count: 7)

Gene Symbol	Pathway Count	Pathway List
CACNA1G	8	axon guidance; transport; low voltage-gated calcium channel activity; voltage-gated calcium channel complex; calcium channel activity; scaffold protein binding; calcium ion import; regulation of membrane potential;
CACNA1S	6	axon guidance; muscle contraction; myoblast fusion; voltage-gated calcium channel complex; calcium channel activity; metal ion binding;
CACNB2	6	axon guidance; transport; voltage-gated calcium channel complex; calcium channel activity; calcium ion import; sarcolemma;
CAV3	6	muscle organ development; myoblast fusion; regulation of heart contraction; caveola; regulation of membrane potential; sarcolemma;
CACNA1C	5	axon guidance; integral to membrane; voltage-gated calcium channel complex; calcium channel activity; metal ion binding;
CACNA1D	5	axon guidance; voltage-gated calcium channel complex; calcium channel activity; calcium ion import; metal ion binding;
CACNA1F	5	axon guidance; integral to membrane; voltage-gated calcium channel complex; calcium channel activity; metal ion binding;

Genes shared at least 2 KEGG pathways with CACNA1H (count: 11)

Gene Symbol	Pathway Count	Pathway List
CACNA1A	2	Calcium signaling pathway; MAPK signaling pathway;
CACNA1B	2	Calcium signaling pathway; MAPK signaling pathway;
CACNA1C	2	Calcium signaling pathway; MAPK signaling pathway;
CACNA1D	2	Calcium signaling pathway; MAPK signaling pathway;
CACNA1E	2	Calcium signaling pathway; MAPK signaling pathway;
CACNA1F	2	Calcium signaling pathway; MAPK signaling pathway;
CACNA1G	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: chr16:1203241..1271772 View in gBrowse