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, 1
External Links	HGNC: 1529 Entrez Gene: 859 Ensembl: ENSG00000182533 UCSC: uc003brb.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	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)
rs6770632	chr3:8793724(Fwd)	3_prime_UTR_variant; intron_variant; nc_transcript_variant	1(0/1/0)
rs53576	chr3:8804371(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)
rs237885	chr3:8795543(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs13316193	chr3:8802743(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)

LD-proxies (count: 14)

rs_ID	Location	Functional Annotation
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
rs6777678	chr3:8787061(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs13087941	chr3:8787220(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; synonymous_variant; upstream_gene_variant
rs11916022	chr3:8781331(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant
rs6777088	chr3:8786487(Fwd)	intron_variant; nc_transcript_variant; NMD_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
rs237886	chr3:8795587(Fwd)	intron_variant; nc_transcript_variant
rs11706648	chr3:8796547(Fwd)	intron_variant; nc_transcript_variant
rs2268493	chr3:8800840(Fwd)	intron_variant; nc_transcript_variant
rs11131149	chr3:8802851(Fwd)	intron_variant; nc_transcript_variant
rs2268492	chr3:8800672(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:0051926	negative regulation of calcium ion transport	biological process	IDA	4
GO:0042391	regulation of membrane potential	biological process	IDA	10
GO:0007520	myoblast fusion	biological process	IEA	6
GO:0045792	negative regulation of cell size	biological process	IMP[12847114]	3
GO:0051647	nucleus localization	biological process	IEA	1
GO:0030018	Z disc	cellular component	ISS	17
GO:0033292	T-tubule organization	biological process	TAS[12847114]	1
GO:0060299	negative regulation of sarcomere organization	biological process	IMP[12847114]	1
GO:0006897	endocytosis	biological process	ISS	26
GO:0045121	membrane raft	cellular component	ISS	24
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	biological process	IMP[17060380]	3
GO:0060762	regulation of branching involved in mammary gland duct morphogenesis	biological process	IEA	2
GO:0007517	muscle organ development	biological process	TAS[10988290]	17
GO:0010831	positive regulation of myotube differentiation	biological process	IEA	2
GO:2000649	regulation of sodium ion transmembrane transporter activity	biological process	IDA[17275750]	5
GO:0005886	plasma membrane	cellular component	IDA[17060380]	839
GO:0016049	cell growth	biological process	ISS	12
GO:0010614	negative regulation of cardiac muscle hypertrophy	biological process	IMP[12847114]	1
GO:0005515	protein binding	molecular function	IPI[10988290]	1015
GO:1900825	regulation of membrane depolarization involved in regulation of cardiac muscle cell action potential	biological process	IMP[17275750]	2
GO:0007015	actin filament organization	biological process	IEA	12
GO:0005246	calcium channel regulator activity	molecular function	IDA	10
GO:0050998	nitric-oxide synthase binding	molecular function	IEA	3
GO:0006469	negative regulation of protein kinase activity	biological process	ISS	17
GO:0051394	regulation of nerve growth factor receptor activity	biological process	IMP	1
GO:0051896	regulation of protein kinase B signaling cascade	biological process	IEA	4
GO:0055117	regulation of cardiac muscle contraction	biological process	IMP[17275750]	4
GO:0042632	cholesterol homeostasis	biological process	ISS	17
GO:0044325	ion channel binding	molecular function	IPI	16
GO:0090002	establishment of protein localization to plasma membrane	biological process	IEA	1
GO:0008284	positive regulation of cell proliferation	biological process	IEA	75
GO:0061052	negative regulation of cell growth involved in cardiac muscle cell development	biological process	IEA	1
GO:0031594	neuromuscular junction	cellular component	ISS	9
GO:0060373	regulation of ventricular cardiac muscle cell membrane depolarization	biological process	IDA[17060380]	3
GO:0007009	plasma membrane organization	biological process	ISS	2
GO:0070836	caveola assembly	biological process	IDA[18936328]	1
GO:0072659	protein localization to plasma membrane	biological process	ISS	4
GO:0038009	regulation of signal transduction by receptor internalization	biological process	IMP	1
GO:0030315	T-tubule	cellular component	ISS	12
GO:0043407	negative regulation of MAP kinase activity	biological process	IMP[12847114]	8
GO:0002027	regulation of heart rate	biological process	IMP[17060380]	5
GO:0042383	sarcolemma	cellular component	IDA[17060380]	12
GO:0060347	heart trabecula formation	biological process	IEA	2
GO:0044432	endoplasmic reticulum part	cellular component	IDA	1
GO:0000139	Golgi membrane	cellular component	IEA	106
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	biological process	IEA	2
GO:0031982	vesicle	cellular component	IEA	6
GO:0006641	triglyceride metabolic process	biological process	ISS	8
GO:0014819	regulation of skeletal muscle contraction	biological process	IMP[17524427]	1
GO:1900744	regulation of p38MAPK cascade	biological process	IEA	1
GO:0017080	sodium channel regulator activity	molecular function	IDA[17060380]; IMP[17275750]	7
GO:0043409	negative regulation of MAPK cascade	biological process	ISS	5
GO:0008022	protein C-terminus binding	molecular function	IDA[10988290]	42
GO:0007204	elevation of cytosolic calcium ion concentration	biological process	ISS	21
GO:0043014	alpha-tubulin binding	molecular function	IEA	2
GO:0032947	protein complex scaffold	molecular function	IPI[17060380]; ISS	7
GO:0046716	muscle cell homeostasis	biological process	ISS	4
GO:0031116	positive regulation of microtubule polymerization	biological process	ISS	6
GO:0009986	cell surface	cellular component	IEA	75
GO:1901019	regulation of calcium ion transmembrane transporter activity	biological process	IDA	1
GO:0051001	negative regulation of nitric-oxide synthase activity	biological process	ISS	2
GO:0055013	cardiac muscle cell development	biological process	IEA	1
GO:0005901	caveola	cellular component	IEA	13
GO:0031579	membrane raft organization	biological process	ISS	1
GO:0016010	dystrophin-associated glycoprotein complex	cellular component	IDA[10988290]	2
GO:0030154	cell differentiation	biological process	ISS	61
GO:0001778	plasma membrane repair	biological process	IEA	3
GO:0042593	glucose homeostasis	biological process	ISS	21
GO:0071253	connexin binding	molecular function	IDA[19544087]	1
GO:0032403	protein complex binding	molecular function	IDA[10988290]	30
GO:0031122	cytoplasmic microtubule organization	biological process	IEA	4
GO:0090279	regulation of calcium ion import	biological process	IDA	1
GO:0008104	protein localization	biological process	ISS	12
GO:0008016	regulation of heart contraction	biological process	ISS	8

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04510	Focal adhesion	40

Genes shared at least 5 GO terms with CAV3 (count: 23)

Gene Symbol	Pathway Count	Pathway List
ANK3	8	plasma membrane; protein binding; ion channel binding; plasma membrane organization; protein localization to plasma membrane; T-tubule; sarcolemma; cell surface;
TSC2	7	negative regulation of cell size; endocytosis; protein binding; negative regulation of protein kinase activity; negative regulation of MAP kinase activity; caveola; protein localization;
SCN3B	7	Z disc; regulation of sodium ion transmembrane transporter activity; plasma membrane; ion channel binding; regulation of ventricular cardiac muscle cell membrane depolarization; protein localization to plasma membrane; sodium channel regulator activity;
CACNA1H	6	regulation of membrane potential; myoblast fusion; muscle organ development; sarcolemma; caveola; regulation of heart contraction;
RYR2	6	Z disc; plasma membrane; protein binding; regulation of cardiac muscle contraction; ion channel binding; regulation of heart rate;
LAMTOR1	6	membrane raft; plasma membrane; cell growth; protein binding; cholesterol homeostasis; protein complex scaffold;
APC	6	plasma membrane; protein binding; negative regulation of MAPK cascade; muscle cell homeostasis; positive regulation of microtubule polymerization; cytoplasmic microtubule organization;
AKAP7	6	plasma membrane; protein binding; T-tubule; protein C-terminus binding; protein complex scaffold; protein localization;
ADRA2A	5	negative regulation of calcium ion transport; plasma membrane; protein binding; positive regulation of cell proliferation; glucose homeostasis;
PLN	5	negative regulation of calcium ion transport; protein binding; calcium channel regulator activity; vesicle; regulation of heart contraction;
GSK3B	5	myoblast fusion; membrane raft; plasma membrane; protein binding; negative regulation of MAP kinase activity;
CACNA1C	5	Z disc; plasma membrane; protein binding; elevation of cytosolic calcium ion concentration; glucose homeostasis;
CRYAB	5	Z disc; muscle organ development; plasma membrane; protein binding; cell surface;
DES	5	Z disc; protein binding; neuromuscular junction; sarcolemma; regulation of heart contraction;
ADRA1A	5	Z disc; plasma membrane; cell growth; T-tubule; elevation of cytosolic calcium ion concentration;
INPPL1	5	endocytosis; plasma membrane; protein binding; actin filament organization; negative regulation of MAP kinase activity;
NPC1	5	endocytosis; membrane raft; protein binding; cholesterol homeostasis; vesicle;
LRP5	5	endocytosis; plasma membrane; protein binding; cholesterol homeostasis; positive regulation of cell proliferation;
ADAM17	5	membrane raft; plasma membrane; protein binding; positive regulation of cell proliferation; cell surface;
ACHE	5	muscle organ development; plasma membrane; protein binding; neuromuscular junction; cell surface;
AXIN1	5	plasma membrane; protein binding; protein C-terminus binding; protein complex scaffold; cytoplasmic microtubule organization;
GOPC	5	plasma membrane; protein binding; ion channel binding; Golgi membrane; protein C-terminus binding;
PTCH1	5	plasma membrane; protein binding; caveola; glucose homeostasis; protein complex binding;

Genes shared at least 2 KEGG pathways with CAV3 (count: 0)

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Region: chr3:8775486..8883492 View in gBrowse