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	CAV3
Symbol Alias	VIP-21, LGMD1C, VIP21, LQT9
Approved Name	caveolin 3
Name Alias	M-caveolin
Location	3p25
Position	chr3:8775486-8883492, +
External Links	HGNC: 1529 Entrez Gene: 859 Ensembl: ENSG00000182533 UCSC: uc003brb.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 0)

Gene related SNPs (count: 19)

Literature-origin SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs53576	Chr3:8804371(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs13316193	Chr3:8802743(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs6770632	Chr3:8793724(Fwd)	3_prime_UTR_variant; intron_variant; nc_transcript_variant	1(0/1/0)
rs237885	Chr3:8795543(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs237895	Chr3:8807423(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant	1(0/1/0)

LD-proxies (count: 14)

rs_ID	Location	Functional Annotation
rs2268493	Chr3:8800840(Fwd)	intron_variant; nc_transcript_variant
rs2268492	Chr3:8800672(Fwd)	intron_variant; nc_transcript_variant
rs13087941	Chr3:8787220(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; synonymous_variant; upstream_gene_variant
rs11131149	Chr3:8802851(Fwd)	intron_variant; nc_transcript_variant
rs6777678	Chr3:8787061(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs6777088	Chr3:8786487(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs11916022	Chr3:8781331(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs2324728	Chr3:8792728(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs237884	Chr3:8793585(Fwd)	3_prime_UTR_variant; intron_variant; nc_transcript_variant
rs237897	Chr3:8808285(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs17297971	Chr3:8790164(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs7632287	Chr3:8791446(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs11706648	Chr3:8796547(Fwd)	intron_variant; nc_transcript_variant
rs237886	Chr3:8795587(Fwd)	intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 74)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 74)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:1901019	regulation of calcium ion transmembrane transporter activity	Biological Process		1
GO:2000649	regulation of sodium ion transmembrane transporter activity	Biological Process	IDA[17275750]	5
GO:0090002	establishment of protein localization to plasma membrane	Biological Process		1
GO:0090279	regulation of calcium ion import	Biological Process		1
GO:1900744	regulation of p38MAPK cascade	Biological Process		1
GO:1900825	regulation of membrane depolarization involved in regulation of cardiac muscle cell action potential	Biological Process	IMP[17275750]	2
GO:0061052	negative regulation of cell growth involved in cardiac muscle cell development	Biological Process		1
GO:0070836	caveola assembly	Biological Process	IDA[18936328]	1
GO:0071253	connexin binding	Molecular Function	IDA[19544087]	1
GO:0072659	protein localization to plasma membrane	Biological Process		4
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	Biological Process	IMP[17060380]	3
GO:0060347	heart trabecula formation	Biological Process		2
GO:0060373	regulation of ventricular cardiac muscle cell membrane depolarization	Biological Process	IDA[17060380]	3
GO:0060762	regulation of branching involved in mammary gland duct morphogenesis	Biological Process		1
GO:0001778	plasma membrane repair	Biological Process		3
GO:0000139	Golgi membrane	Cellular Component		95
GO:0005246	calcium channel regulator activity	Molecular Function		10
GO:0002027	regulation of heart rate	Biological Process	IMP[17060380]	5
GO:0005886	plasma membrane	Cellular Component	IDA[17060380]	772
GO:0005515	protein binding	Molecular Function	IPI[10988290]	910
GO:0006469	negative regulation of protein kinase activity	Biological Process		13
GO:0005901	caveola	Cellular Component		12
GO:0006897	endocytosis	Biological Process		23
GO:0006641	triglyceride metabolic process	Biological Process		8
GO:0007015	actin filament organization	Biological Process		12
GO:0007009	plasma membrane organization	Biological Process		2
GO:0007204	elevation of cytosolic calcium ion concentration	Biological Process		20
GO:0007517	muscle organ development	Biological Process	TAS[10988290]	16
GO:0007520	myoblast fusion	Biological Process		6
GO:0008016	regulation of heart contraction	Biological Process		8
GO:0008022	protein C-terminus binding	Molecular Function	IDA[10988290]	32
GO:0008104	protein localization	Biological Process		10
GO:0008284	positive regulation of cell proliferation	Biological Process		69
GO:0009986	cell surface	Cellular Component		70
GO:0010614	negative regulation of cardiac muscle hypertrophy	Biological Process	IMP[12847114]	1
GO:0010831	positive regulation of myotube differentiation	Biological Process		2
GO:0014819	regulation of skeletal muscle contraction	Biological Process	IMP[17524427]	1
GO:0016010	dystrophin-associated glycoprotein complex	Cellular Component	IDA[10988290]	2
GO:0016049	cell growth	Biological Process		11
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	Biological Process		2
GO:0017080	sodium channel regulator activity	Molecular Function	IDA[17060380]; IMP[17275750]	7
GO:0030018	Z disc	Cellular Component		17
GO:0031122	cytoplasmic microtubule organization	Biological Process		3
GO:0031116	positive regulation of microtubule polymerization	Biological Process		6
GO:0030315	T-tubule	Cellular Component		12
GO:0030154	cell differentiation	Biological Process		51
GO:0032403	protein complex binding	Molecular Function	IDA[10988290]	27
GO:0031982	vesicle	Cellular Component		6
GO:0031594	neuromuscular junction	Cellular Component		7
GO:0031579	membrane raft organization	Biological Process		1
GO:0042383	sarcolemma	Cellular Component	IDA[17060380]	11
GO:0038009	regulation of signal transduction by receptor internalization	Biological Process		1
GO:0033292	T-tubule organization	Biological Process	TAS[12847114]	1
GO:0032947	protein complex scaffold	Molecular Function	IPI[17060380]	5
GO:0043014	alpha-tubulin binding	Molecular Function		2
GO:0042632	cholesterol homeostasis	Biological Process		18
GO:0042593	glucose homeostasis	Biological Process		18
GO:0042391	regulation of membrane potential	Biological Process		9
GO:0044325	ion channel binding	Molecular Function		15
GO:0044432	endoplasmic reticulum part	Cellular Component		1
GO:0043407	negative regulation of MAP kinase activity	Biological Process	IMP[12847114]	7
GO:0043409	negative regulation of MAPK cascade	Biological Process		5
GO:0046716	muscle cell homeostasis	Biological Process		4
GO:0050998	nitric-oxide synthase binding	Molecular Function		3
GO:0045121	membrane raft	Cellular Component		22
GO:0045792	negative regulation of cell size	Biological Process	IMP[12847114]	2
GO:0051647	nucleus localization	Biological Process		1
GO:0051896	regulation of protein kinase B signaling cascade	Biological Process		3
GO:0051001	negative regulation of nitric-oxide synthase activity	Biological Process		2
GO:0051394	regulation of nerve growth factor receptor activity	Biological Process		1
GO:0055117	regulation of cardiac muscle contraction	Biological Process	IMP[17275750]	4
GO:0060299	negative regulation of sarcomere organization	Biological Process	IMP[12847114]	1
GO:0051926	negative regulation of calcium ion transport	Biological Process		4
GO:0055013	cardiac muscle cell development	Biological Process		1

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04144	Endocytosis	39	Endocytosis is a mechanism for cells to remove ligands, nutr...... Endocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins entering through clathrin-dependent endocytosis (CDE) have sequences in their cytoplasmic domains that bind to the APs (adaptor-related protein complexes) and enable their rapid removal from the PM. In addition to APs and clathrin, there are numerous accessory proteins including dynamin. Depending on the various proteins that enter the endosome membrane, these cargoes are sorted to distinct destinations. Some cargoes, such as nutrient receptors, are recycled back to the PM. Ubiquitylated membrane proteins, such as activated growth-factor receptors, are sorted into intraluminal vesicles and eventually end up in the lysosome lumen via multivesicular endosomes (MVEs). There are distinct mechanisms of clathrin-independent endocytosis (CIE) depending upon the cargo and the cell type. More...
hsa05100	Bacterial invasion of epithelial cells	19	Many pathogenic bacteria can invade phagocytic and non-phago...... Many pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-phagocytic host cells (e.g. epithelial cells) using two mechanisms referred to as zipper model and trigger model. Listeria, Staphylococcus, Streptococcus, and Yersinia are examples of bacteria that enter using the zipper model. These bacteria express proteins on their surfaces that interact with cellular receptors, initiating signalling cascades that result in close apposition of the cellular membrane around the entering bacteria. Shigella and Salmonella are the examples of bacteria entering cells using the trigger model. These bacteria use type III secretion systems to inject protein effectors that interact with the actin cytoskeleton. More...
hsa04510	Focal adhesion	40	Cell-matrix adhesions play essential roles in important biol...... Cell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the cell-extracellular matrix contact points, specialized structures are formed and termed focal adhesions, where bundles of actin filaments are anchored to transmembrane receptors of the integrin family through a multi-molecular complex of junctional plaque proteins. Some of the constituents of focal adhesions participate in the structural link between membrane receptors and the actin cytoskeleton, while others are signalling molecules, including different protein kinases and phosphatases, their substrates, and various adapter proteins. Integrin signaling is dependent upon the non-receptor tyrosine kinase activities of the FAK and src proteins as well as the adaptor protein functions of FAK, src and Shc to initiate downstream signaling events. These signalling events culminate in reorganization of the actin cytoskeleton; a prerequisite for changes in cell shape and motility, and gene expression. Similar morphological alterations and modulation of gene expression are initiated by the binding of growth factors to their respective receptors, emphasizing the considerable crosstalk between adhesion- and growth factor-mediated signalling. More...

Genes shared at least 5 GO terms with CAV3 (count: 21)

Gene Symbol	Pathway Count	Pathway List
ANK3	8	protein localization to plasma membrane; plasma membrane; protein binding; plasma membrane organization; cell surface; T-tubule; sarcolemma; ion channel binding;
SCN3B	7	regulation of sodium ion transmembrane transporter activity; protein localization to plasma membrane; regulation of ventricular cardiac muscle cell membrane depolarization; plasma membrane; sodium channel regulator activity; Z disc; ion channel binding;
RYR2	6	regulation of heart rate; plasma membrane; protein binding; Z disc; ion channel binding; regulation of cardiac muscle contraction;
AKAP7	6	plasma membrane; protein binding; protein C-terminus binding; protein localization; T-tubule; protein complex scaffold;
APC	6	plasma membrane; protein binding; cytoplasmic microtubule organization; positive regulation of microtubule polymerization; negative regulation of MAPK cascade; muscle cell homeostasis;
LAMTOR1	6	plasma membrane; protein binding; cell growth; protein complex scaffold; cholesterol homeostasis; membrane raft;
CACNA1H	6	caveola; muscle organ development; myoblast fusion; regulation of heart contraction; sarcolemma; regulation of membrane potential;
GOPC	5	Golgi membrane; plasma membrane; protein binding; protein C-terminus binding; ion channel binding;
PLN	5	calcium channel regulator activity; protein binding; regulation of heart contraction; vesicle; negative regulation of calcium ion transport;
ACHE	5	plasma membrane; protein binding; muscle organ development; cell surface; neuromuscular junction;
ADAM17	5	plasma membrane; protein binding; positive regulation of cell proliferation; cell surface; membrane raft;
ADRA1A	5	plasma membrane; elevation of cytosolic calcium ion concentration; cell growth; Z disc; T-tubule;
ADRA2A	5	plasma membrane; protein binding; positive regulation of cell proliferation; glucose homeostasis; negative regulation of calcium ion transport;
CACNA1C	5	plasma membrane; protein binding; elevation of cytosolic calcium ion concentration; Z disc; glucose homeostasis;
CRYAB	5	plasma membrane; protein binding; muscle organ development; cell surface; Z disc;
GSK3B	5	plasma membrane; protein binding; myoblast fusion; negative regulation of MAP kinase activity; membrane raft;
INPPL1	5	plasma membrane; protein binding; endocytosis; actin filament organization; negative regulation of MAP kinase activity;
LRP5	5	plasma membrane; protein binding; endocytosis; positive regulation of cell proliferation; cholesterol homeostasis;
PTCH1	5	plasma membrane; protein binding; caveola; protein complex binding; glucose homeostasis;
DES	5	protein binding; regulation of heart contraction; Z disc; neuromuscular junction; sarcolemma;
NPC1	5	protein binding; endocytosis; vesicle; cholesterol homeostasis; membrane raft;

Genes shared at least 2 KEGG pathways with CAV3 (count: 10)

Gene Symbol	Pathway Count	Pathway List
CBL	2	Endocytosis; Bacterial invasion of epithelial cells;
CLTCL1	2	Endocytosis; Bacterial invasion of epithelial cells;
DNM1	2	Endocytosis; Bacterial invasion of epithelial cells;
BCAR1	2	Bacterial invasion of epithelial cells; Focal adhesion;
CRKL	2	Bacterial invasion of epithelial cells; Focal adhesion;
FN1	2	Bacterial invasion of epithelial cells; Focal adhesion;
ILK	2	Bacterial invasion of epithelial cells; Focal adhesion;
PIK3CG	2	Bacterial invasion of epithelial cells; Focal adhesion;
PIK3R1	2	Bacterial invasion of epithelial cells; Focal adhesion;
SHC3	2	Bacterial invasion of epithelial cells; Focal adhesion;

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Region: chr3:8775486..8883492 View in gBrowse