• Gene id: 859

Gene Summary

• Gene Symbol: CAV3   Gene   UCSC   Ensembl
• Aliases: LGMD1C, LQT9, MPDT, RMD2, VIP-21, VIP21
• Gene name: caveolin 3
• Alternate names: caveolin-3, M-caveolin, cavolin 3,
• Gene location: 3p25.3 (8733801: 8746757)     Exons: 2     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 601253

SNPs

rs1801085

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27128971A>G
NC_000007.13   g.27168590A>G
NM_002141.4   c.*254T>C
NM_002141.5   c.*254T>C|SEQ=[A/G]|GENE=HOXA3
HOXA4   3201
HOXA-AS2   285943

Protein Summary

• Protein general information: P56539  
  • Name: Caveolin 3 (M caveolin)
  • Length: 151  
  • Mass: 17259
  • Tissue specificity: Expressed predominantly in muscle. {ECO
• Sequence:

  MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRL
  LSTLLGVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKE
  V

• Structural information:
  • Interpro: IPR031091  IPR001612  IPR018361  
  • Prosite: PS01210
  • STRING: ENSP00000341940
• Other Databases: GeneCards:  CAV3  Malacards:  CAV3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005901	caveola	IBA	colocalizes with
GO:0030154	cell differentiation	IBA	biological process
GO:0044325	ion channel binding	IBA	molecular function
GO:0051480	regulation of cytosolic calcium ion concentration	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005925	focal adhesion	IBA	colocalizes with
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0060090	molecular adaptor activity	IBA	molecular function
GO:0070836	caveola assembly	IBA	biological process
GO:0071253	connexin binding	IBA	molecular function
GO:1900825	regulation of membrane depolarization during cardiac muscle cell action potential	IBA	biological process
GO:0005901	caveola	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005901	caveola	IEA	cellular component
GO:0023051	regulation of signaling	IEA	biological process
GO:0044325	ion channel binding	IEA	molecular function
GO:0046716	muscle cell cellular homeostasis	IEA	biological process
GO:0060090	molecular adaptor activity	IEA	molecular function
GO:0070836	caveola assembly	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0051926	negative regulation of calcium ion transport	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0070836	caveola assembly	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0038009	regulation of signal transduction by receptor internalization	IMP	biological process
GO:0051394	regulation of nerve growth factor receptor activity	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901017	negative regulation of potassium ion transmembrane transporter activity	IEA	biological process
GO:0086005	ventricular cardiac muscle cell action potential	IEA	biological process
GO:0044325	ion channel binding	IEA	molecular function
GO:0032991	protein-containing complex	IEA	cellular component
GO:0031116	positive regulation of microtubule polymerization	IEA	biological process
GO:0030315	T-tubule	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0014704	intercalated disc	IEA	cellular component
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0008016	regulation of heart contraction	IEA	biological process
GO:0005901	caveola	IEA	cellular component
GO:1900826	negative regulation of membrane depolarization during cardiac muscle cell action potential	IEA	biological process
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:0055013	cardiac muscle cell development	IEA	biological process
GO:0051926	negative regulation of calcium ion transport	IEA	biological process
GO:0051924	regulation of calcium ion transport	IEA	biological process
GO:0051647	nucleus localization	IEA	biological process
GO:0051001	negative regulation of nitric-oxide synthase activity	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0044325	ion channel binding	IEA	molecular function
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0035995	detection of muscle stretch	IEA	biological process
GO:0031122	cytoplasmic microtubule organization	IEA	biological process
GO:0030315	T-tubule	IEA	cellular component
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0014902	myotube differentiation	IEA	biological process
GO:0007015	actin filament organization	IEA	biological process
GO:0005901	caveola	IEA	cellular component
GO:2001288	positive regulation of caveolin-mediated endocytosis	IEA	biological process
GO:1901380	negative regulation of potassium ion transmembrane transport	IEA	biological process
GO:0071417	cellular response to organonitrogen compound	IEA	biological process
GO:0061052	negative regulation of cell growth involved in cardiac muscle cell development	IEA	biological process
GO:0060090	molecular adaptor activity	IEA	molecular function
GO:0050998	nitric-oxide synthase binding	IEA	molecular function
GO:0042383	sarcolemma	IEA	cellular component
GO:0031982	vesicle	IEA	cellular component
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0019899	enzyme binding	IEA	molecular function
GO:0019870	potassium channel inhibitor activity	IEA	molecular function
GO:0009986	cell surface	IEA	cellular component
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:1900744	regulation of p38MAPK cascade	IEA	biological process
GO:0071253	connexin binding	IEA	molecular function
GO:0070836	caveola assembly	IEA	biological process
GO:0060762	regulation of branching involved in mammary gland duct morphogenesis	IEA	biological process
GO:0060347	heart trabecula formation	IEA	biological process
GO:0051896	regulation of protein kinase B signaling	IEA	biological process
GO:0043409	negative regulation of MAPK cascade	IEA	biological process
GO:0043014	alpha-tubulin binding	IEA	molecular function
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0031579	membrane raft organization	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0010831	positive regulation of myotube differentiation	IEA	biological process
GO:0010614	negative regulation of cardiac muscle hypertrophy	IEA	biological process
GO:0008104	protein localization	IEA	biological process
GO:0007520	myoblast fusion	IEA	biological process
GO:0007009	plasma membrane organization	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0006641	triglyceride metabolic process	IEA	biological process
GO:0006469	negative regulation of protein kinase activity	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0001778	plasma membrane repair	IEA	biological process
GO:0005246	calcium channel regulator activity	IDA	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0017080	sodium channel regulator activity	IDA	molecular function
GO:0071253	connexin binding	IDA	molecular function
GO:0017080	sodium channel regulator activity	IMP	molecular function
GO:0019870	potassium channel inhibitor activity	ISS	molecular function
GO:0060090	molecular adaptor activity	IPI	molecular function
GO:0060373	regulation of ventricular cardiac muscle cell membrane depolarization	IDA	biological process
GO:0090279	regulation of calcium ion import	IDA	biological process
GO:1901019	regulation of calcium ion transmembrane transporter activity	IDA	biological process
GO:2000649	regulation of sodium ion transmembrane transporter activity	IDA	biological process
GO:2000649	regulation of sodium ion transmembrane transporter activity	IDA	biological process
GO:0008016	regulation of heart contraction	ISS	biological process
GO:0014819	regulation of skeletal muscle contraction	IMP	biological process
GO:0030154	cell differentiation	ISS	biological process
GO:0030315	T-tubule	ISS	cellular component
GO:0031116	positive regulation of microtubule polymerization	ISS	biological process
GO:0033292	T-tubule organization	TAS	biological process
GO:0042593	glucose homeostasis	ISS	biological process
GO:0042632	cholesterol homeostasis	ISS	biological process
GO:0045121	membrane raft	ISS	cellular component
GO:0045792	negative regulation of cell size	IMP	biological process
GO:0051001	negative regulation of nitric-oxide synthase activity	ISS	biological process
GO:0055117	regulation of cardiac muscle contraction	IMP	biological process
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:0086005	ventricular cardiac muscle cell action potential	ISS	biological process
GO:1901017	negative regulation of potassium ion transmembrane transporter activity	ISS	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0042383	sarcolemma	IDA	cellular component
GO:0042383	sarcolemma	IDA	cellular component
GO:0042391	regulation of membrane potential	IDA	biological process
GO:0035995	detection of muscle stretch	ISS	biological process
GO:0098909	regulation of cardiac muscle cell action potential involved in regulation of contraction	IMP	biological process
GO:0002027	regulation of heart rate	IMP	biological process
GO:0006469	negative regulation of protein kinase activity	ISS	biological process
GO:0006641	triglyceride metabolic process	ISS	biological process
GO:0006897	endocytosis	ISS	biological process
GO:0007009	plasma membrane organization	ISS	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	ISS	biological process
GO:0008104	protein localization	ISS	biological process
GO:0010614	negative regulation of cardiac muscle hypertrophy	IMP	biological process
GO:0030018	Z disc	ISS	colocalizes with
GO:0031579	membrane raft organization	ISS	biological process
GO:0031594	neuromuscular junction	ISS	cellular component
GO:0043407	negative regulation of MAP kinase activity	IMP	biological process
GO:0043409	negative regulation of MAPK cascade	ISS	biological process
GO:0060299	negative regulation of sarcomere organization	IMP	biological process
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	IMP	biological process
GO:1900825	regulation of membrane depolarization during cardiac muscle cell action potential	IMP	biological process
GO:1901380	negative regulation of potassium ion transmembrane transport	ISS	biological process
GO:2000009	negative regulation of protein localization to cell surface	NAS	biological process
GO:2000060	positive regulation of ubiquitin-dependent protein catabolic process	NAS	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0008022	protein C-terminus binding	IDA	molecular function
GO:0016010	dystrophin-associated glycoprotein complex	IDA	cellular component
GO:0007517	muscle organ development	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04510	Focal adhesion
hsa05205	Proteoglycans in cancer
hsa05418	Fluid shear stress and atherosclerosis
hsa05100	Bacterial invasion of epithelial cells

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Long QT syndrome	KEGG:H00720
Distal myopathy	KEGG:H00594
Limb-girdle muscular dystrophy 1C	KEGG:H00567
Rippling muscle disease	KEGG:H02179
Idiopathic hyperCKemia	KEGG:H02181
Distal myopathy, Tateyama type	KEGG:H02182
Limb-girdle muscular dystrophy	KEGG:H00593
Long QT syndrome	KEGG:H00720
Distal myopathy	KEGG:H00594
Limb-girdle muscular dystrophy 1C	KEGG:H00567
Rippling muscle disease	KEGG:H02179
Idiopathic hyperCKemia	KEGG:H02181
Distal myopathy, Tateyama type	KEGG:H02182
Muscular dystrophy	PMID:9537420
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)