Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	859
Gene name	Caveolin 3
Gene symbol	CAV3
Synonyms (NCBI Gene)	LGMD1CLQT9MPDTRMD2VIP-21VIP21
Chromosome	3
Chromosome location	3p25.3
Summary	This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting m

Show/Hide all (23)

miRTarBase ID	miRNA	Experiments
MIRT864581	hsa-miR-3187-3p	CLIP-seq
MIRT864582	hsa-miR-3188	CLIP-seq
MIRT864583	hsa-miR-3926	CLIP-seq
MIRT864584	hsa-miR-412	CLIP-seq
MIRT864585	hsa-miR-4269	CLIP-seq
MIRT864586	hsa-miR-4433	CLIP-seq
MIRT864587	hsa-miR-4435	CLIP-seq
MIRT864588	hsa-miR-4480	CLIP-seq
MIRT864589	hsa-miR-4514	CLIP-seq
MIRT864590	hsa-miR-4692	CLIP-seq
MIRT864591	hsa-miR-4701-5p	CLIP-seq
MIRT864592	hsa-miR-4742-5p	CLIP-seq
MIRT864593	hsa-miR-548s	CLIP-seq
MIRT864594	hsa-miR-588	CLIP-seq
MIRT864595	hsa-miR-3185	CLIP-seq
MIRT864596	hsa-miR-3611	CLIP-seq
MIRT864597	hsa-miR-4530	CLIP-seq
MIRT864595	hsa-miR-3185	CLIP-seq
MIRT864596	hsa-miR-3611	CLIP-seq
MIRT864597	hsa-miR-4530	CLIP-seq
MIRT864595	hsa-miR-3185	CLIP-seq
MIRT864596	hsa-miR-3611	CLIP-seq
MIRT864597	hsa-miR-4530	CLIP-seq

130

Show/Hide all (130)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000165	Process	MAPK cascade	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0001778	Process	Plasma membrane repair	IEA
GO:0002027	Process	Regulation of heart rate	IMP	17060380
GO:0002931	Process	Response to ischemia	IEA
GO:0003300	Process	Cardiac muscle hypertrophy	IEA
GO:0005246	Function	Calcium channel regulator activity	IDA	21084288
GO:0005515	Function	Protein binding	IPI	10988290, 19726876, 24567387, 25556234, 26497963, 28514442, 32296183, 32814053, 33961781
GO:0005783	Component	Endoplasmic reticulum	IDA	22792322
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IDA	17060380, 20472890
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005901	Component	Caveola	IEA
GO:0005901	Component	Caveola	ISS
GO:0005925	Component	Focal adhesion	IBA
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0006641	Process	Triglyceride metabolic process	ISS
GO:0006816	Process	Calcium ion transport	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006897	Process	Endocytosis	ISS
GO:0007009	Process	Plasma membrane organization	IEA
GO:0007009	Process	Plasma membrane organization	ISS
GO:0007015	Process	Actin filament organization	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	ISS
GO:0007517	Process	Muscle organ development	TAS	10988290
GO:0007520	Process	Myoblast fusion	IEA
GO:0008016	Process	Regulation of heart contraction	IMP	17275750
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008104	Process	Intracellular protein localization	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	IMP	12847114
GO:0010831	Process	Positive regulation of myotube differentiation	IEA
GO:0014704	Component	Intercalated disc	IEA
GO:0014819	Process	Regulation of skeletal muscle contraction	IMP	17524427
GO:0014902	Process	Myotube differentiation	IEA
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IDA	10988290
GO:0016020	Component	Membrane	IEA
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0017080	Function	Sodium channel regulator activity	IDA	17060380
GO:0017080	Function	Sodium channel regulator activity	IMP	17275750
GO:0019870	Function	Potassium channel inhibitor activity	IEA
GO:0019870	Function	Potassium channel inhibitor activity	ISS	22879586
GO:0019899	Function	Enzyme binding	IEA
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	ISS
GO:0030315	Component	T-tubule	IEA
GO:0030315	Component	T-tubule	ISS
GO:0031116	Process	Positive regulation of microtubule polymerization	IEA
GO:0031116	Process	Positive regulation of microtubule polymerization	ISS
GO:0031122	Process	Cytoplasmic microtubule organization	IEA
GO:0031579	Process	Membrane raft organization	IEA
GO:0031579	Process	Membrane raft organization	ISS
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031594	Component	Neuromuscular junction	ISS
GO:0031982	Component	Vesicle	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033292	Process	T-tubule organization	TAS	12847114
GO:0035995	Process	Detection of muscle stretch	IEA
GO:0035995	Process	Detection of muscle stretch	ISS
GO:0038009	Process	Regulation of signal transduction by receptor internalization	IMP	20472890
GO:0042383	Component	Sarcolemma	IDA	12847114, 17060380
GO:0042383	Component	Sarcolemma	IEA
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0042391	Process	Regulation of membrane potential	IDA	21084288
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0043014	Function	Alpha-tubulin binding	IEA
GO:0043409	Process	Negative regulation of MAPK cascade	IEA
GO:0043409	Process	Negative regulation of MAPK cascade	IMP	12847114
GO:0043409	Process	Negative regulation of MAPK cascade	ISS
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	17060380, 21084288
GO:0044877	Function	Protein-containing complex binding	IDA	10988290
GO:0045121	Component	Membrane raft	IEA
GO:0045121	Component	Membrane raft	ISS
GO:0045792	Process	Negative regulation of cell size	IMP	12847114
GO:0050998	Function	Nitric-oxide synthase binding	IEA
GO:0051394	Process	Regulation of nerve growth factor receptor activity	IMP	20472890
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IBA
GO:0051647	Process	Nucleus localization	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051924	Process	Regulation of calcium ion transport	IEA
GO:0051926	Process	Negative regulation of calcium ion transport	IDA	21084288
GO:0051926	Process	Negative regulation of calcium ion transport	IEA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0055117	Process	Regulation of cardiac muscle contraction	IMP	17275750
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0060090	Function	Molecular adaptor activity	IPI	17060380
GO:0060299	Process	Negative regulation of sarcomere organization	IMP	12847114
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	17060380
GO:0060347	Process	Heart trabecula formation	IEA
GO:0060373	Process	Regulation of ventricular cardiac muscle cell membrane depolarization	IDA	17060380
GO:0060762	Process	Regulation of branching involved in mammary gland duct morphogenesis	IEA
GO:0061052	Process	Negative regulation of cell growth involved in cardiac muscle cell development	IEA
GO:0070836	Process	Caveola assembly	IBA
GO:0070836	Process	Caveola assembly	IDA	18936328
GO:0070836	Process	Caveola assembly	IEA
GO:0070836	Process	Caveola assembly	IEA
GO:0071253	Function	Connexin binding	IDA	19544087
GO:0071253	Function	Connexin binding	IEA
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0072659	Process	Protein localization to plasma membrane	ISS
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IEA
GO:0086005	Process	Ventricular cardiac muscle cell action potential	ISS	22879586
GO:0090279	Process	Regulation of calcium ion import	IDA	21084288
GO:0098909	Process	Regulation of cardiac muscle cell action potential involved in regulation of contraction	IMP	17060380
GO:1900744	Process	Regulation of p38MAPK cascade	IEA
GO:1900825	Process	Regulation of membrane depolarization during cardiac muscle cell action potential	IMP	17275750
GO:1900826	Process	Negative regulation of membrane depolarization during cardiac muscle cell action potential	IEA
GO:1901380	Process	Negative regulation of potassium ion transmembrane transport	IEA
GO:1901380	Process	Negative regulation of potassium ion transmembrane transport	ISS	22879586
GO:1902305	Process	Regulation of sodium ion transmembrane transport	IDA	17060380, 17275750
GO:1904637	Process	Cellular response to ionomycin	IEA
GO:2000009	Process	Negative regulation of protein localization to cell surface	NAS	22879586
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	NAS	22879586
GO:2001288	Process	Positive regulation of caveolin-mediated endocytosis	IEA

MIM	HGNC	e!Ensembl
601253	1529	ENSG00000182533

P56539

Protein name

Caveolin-3 (M-caveolin)

Protein function

May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01146	Caveolin	15 → 148	Caveolin	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed predominantly in muscle. {ECO:0000269|PubMed:9545514}.

Sequence

MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAEPVGTYSFDGVWKV
SYTTFTVSKYWCYRLLSTLLGVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHI
YSLCIRTFCNPLFAALGQVCSSIKVVLRKEV

Sequence length

151

Interactions

View interactions

	KEGG		Reactome
	Endocytosis Focal adhesion Prion disease Bacterial invasion of epithelial cells Proteoglycans in cancer Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy Viral myocarditis Fluid shear stress and atherosclerosis		Smooth Muscle Contraction

730

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Likely pathogenic	rs2124988278	RCV001814536
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs116840789	RCV002381245
CAV3-related disorder	Likely pathogenic	rs116840796	RCV003398568
Distal myopathy, Tateyama type	Pathogenic; Likely pathogenic	rs1008642, rs116840787, rs1708139265	RCV000008786 RCV002496441 RCV001249608
Elevated circulating creatine kinase concentration	Likely pathogenic; Pathogenic	rs116840789, rs116840787, rs1708139265	RCV000008774 RCV002496441 RCV001249608
Hypertrophic cardiomyopathy 1	Pathogenic; Likely pathogenic	rs116840787, rs1708139265	RCV002496441 RCV001249608
Long QT syndrome	Likely pathogenic; Pathogenic	rs2124988406, rs796052171, rs116840805, rs116840789, rs1008642, rs2470062110, rs2470062381, rs199476324, rs116840787	RCV001806710 RCV000190168 RCV005089211 RCV001384920 RCV001212042 RCV003531781 RCV003648589 RCV002513227 RCV001238633 RCV000539792 RCV001050053
Long QT syndrome 9	Pathogenic; Likely pathogenic	rs104893713, rs104893715, rs121909281, rs116840787, rs1708139265	RCV000008788 RCV000008792 RCV000008793 RCV002496441 RCV001249608
Myopathy with tubular aggregates	Likely pathogenic; Pathogenic	rs116840789	RCV004585993
Rippling muscle disease 2	Pathogenic; Likely pathogenic	rs116840805, rs199476331, rs116840782, rs116840789, rs116840773, rs1559654264, rs116840787, rs1708139265	RCV000008765 RCV000008767 RCV000008770 RCV000008772 RCV000008775 RCV003990627 RCV002496441 RCV001249608

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs1558991	RCV005903895
Cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs140575619, rs121909281, rs559206877, rs730880422, rs772475990, rs72546667, rs116840776, rs72546668, rs112626848, rs201267913, rs201893621, rs116840795, rs116840774, rs116840775, rs61147808 View all (9 more)	RCV001171084 RCV000770193 RCV000769180 RCV001171083 RCV000770192 RCV001171080 RCV000769171 RCV000769173 RCV000769174 RCV001798766 RCV000769172 RCV001171082 RCV001171081 RCV000769170 RCV000769169 RCV000770194 RCV000029456 RCV000769178 RCV000769177 RCV000769181 RCV000769175 RCV000769176 RCV000769179 RCV000769182 RCV000770195
Caveolinopathy	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs140575619, rs759446749, rs201593267, rs72546666, rs730880422, rs72546667, rs116840776, rs28936686, rs199476335, rs121909280, rs72546668, rs768764242, rs187370461, rs184247243, rs886058917 View all (40 more)	RCV001145924 RCV001796985 RCV001150161 RCV000272881 RCV001144022 RCV001150159 RCV001144018 RCV005357099 RCV004786247 RCV001150160 RCV001144019 RCV000373246 RCV000274592 RCV000332801 RCV000398812 RCV000320326 RCV000329785 RCV000399735 RCV000293226 RCV000401136 RCV000377300 RCV000260095 RCV000384894 RCV000301555 RCV000310544 RCV000307329 RCV000315025 RCV001145928 RCV000283263 RCV000341746 RCV000369159 RCV001144017 RCV000322919 RCV000339745 RCV000366101 RCV000354374 RCV000294459 RCV000331722 RCV000349095 RCV001144020 RCV001144021 RCV001145925 RCV001145926 RCV001145927 RCV001145929 RCV001145930 RCV001145931 RCV001148709 RCV001148710 RCV001148711 RCV001148712 RCV001148713 RCV001150268 RCV001150269 RCV001150270
Cervical cancer	Benign	rs1558991	RCV005903897
Congenital long QT syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs72546666, rs768764242, rs187370461, rs184247243, rs886058917, rs560215660, rs66667169, rs771619043, rs886058916, rs541417547, rs185369734, rs186579720, rs886058920, rs77367257, rs886058918 View all (11 more)	RCV000327913 RCV000352365 RCV000271070 RCV000372537 RCV000340817 RCV000267669 RCV000277007 RCV000301814 RCV000289305 RCV000279895 RCV000319152 RCV000265868 RCV000378597 RCV000265235 RCV000368691 RCV000363903 RCV000275212 RCV000323134 RCV000289056 RCV000314528 RCV000379199 RCV000271441 RCV000259430 RCV000396877 RCV000391443 RCV000402310
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	rs72546668, rs886058918	RCV004764897 RCV000399123
Joubert syndrome 9	Uncertain significance	rs1575477812	RCV000984999
Limb-girdle muscular dystrophy	Benign; Likely benign; Conflicting classifications of pathogenicity	rs72546667, rs116840776	RCV000171805 RCV000171752
Limb-Girdle Muscular Dystrophy, Dominant	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs72546666, rs72546667, rs768764242, rs187370461, rs184247243, rs886058917, rs560215660, rs66667169, rs771619043, rs886058916, rs541417547, rs185369734, rs186579720, rs886058920, rs77367257 View all (13 more)	RCV000288053 RCV000362621 RCV000278635 RCV000384165 RCV000278021 RCV000400679 RCV000326289 RCV000289785 RCV000353360 RCV000387331 RCV000338268 RCV000295594 RCV000317046 RCV000268979 RCV000359937 RCV000313896 RCV000358181 RCV000367461 RCV000286772 RCV000347204 RCV000280736 RCV000267755 RCV000397797 RCV000393888 RCV000314609 RCV000347017 RCV000276614 RCV000399401
Long QT syndrome 1	Benign; Likely benign; Conflicting classifications of pathogenicity	rs72546667, rs116840776, rs72546668, rs112626848	RCV000987086 RCV000987087 RCV000987088 RCV000987089
Long QT syndrome 2/9, digenic	Conflicting classifications of pathogenicity	rs72546668	RCV000008791
Long QT syndrome 9, acquired, susceptibility to	risk factor	rs104893714	RCV000008789
Malignant tumor of esophagus	Benign	rs1558991	RCV005903896
Primary familial hypertrophic cardiomyopathy	Uncertain significance	rs121909280	RCV000008785
Rippling muscle disease 2, autosomal recessive	Conflicting classifications of pathogenicity	rs28936686	RCV000008780
See cases	Conflicting classifications of pathogenicity	rs112626848	RCV002252075
SUDDEN INFANT DEATH SYNDROME	Uncertain significance	rs28936685	RCV001787372
Thymoma	Benign	rs1558991	RCV005903898
Tip-toe gait	Conflicting classifications of pathogenicity	rs116840771	RCV002226447

Show/Hide Text Mining Associations (42)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arrhythmias Cardiac	Associate	29326130
Breast Neoplasms	Associate	36790286
Carcinoma Intraductal Noninfiltrating	Associate	36790286
Cardiomyopathies	Associate	18793348
Cardiomyopathy Hypertrophic	Associate	27483260
Cleft Soft Palate	Associate	26597319
Coronary Artery Disease	Associate	29557990
Coronary Restenosis	Associate	29557990
Death	Associate	17275750
Distal Myopathies	Associate	27312022
Fused Teeth	Associate	22245016
Hepatopulmonary Syndrome	Associate	20346360
Inclusion Body Myopathy 3 Autosomal Dominant	Associate	22245016
Lipodystrophy Congenital Generalized	Associate	32349771
Long QT Syndrome	Associate	17275750, 19029296, 20809527, 28648120, 29326130, 30079003, 30588629
Long Qt Syndrome 9	Associate	30588629
Long QT syndrome type 3	Associate	17275750
Medulloblastoma	Associate	35243582
Motor Neuron Disease	Associate	35468848
Mouth Neoplasms	Associate	36790286
Muscle Neoplasms	Associate	21294223
Muscle Weakness	Associate	11786420
Muscular Diseases	Associate	27739254, 31036801
Muscular Dystrophies	Associate	18793348, 19835634, 21412170
Muscular Dystrophies Limb Girdle	Associate	10386585, 11786420, 21172462
Muscular Dystrophy Duchenne	Associate	31036801
Muscular Dystrophy Facioscapulohumeral	Associate	22245016
Muscular Dystrophy Limb Girdle Type 1C	Associate	21412170, 27312022
Myalgia	Associate	27312022
Myasthenia Gravis	Associate	30734484
Myopathy with Lactic Acidosis Hereditary	Associate	27312022
Myotonia	Associate	15314133, 27312022
Neoplasms	Associate	36790286
Neuromuscular Diseases	Associate	27312022
Neuromuscular Junction Diseases	Associate	39236304
Precancerous Conditions	Associate	36790286
Retinal Dystrophies	Associate	31036801
Rhabdomyolysis	Associate	27312022
Rippling muscle disease 1	Associate	15314133, 21294223, 22245016, 27312022, 36522170
Sudden Infant Death	Associate	17275750
Thymoma	Associate	30734484
Usher syndrome type 1C	Associate	11786420

CAV3 (caveolin 3)