CAV3 caveolin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CAV3provided by HGNC
Official Full Name: caveolin 3provided by HGNC
Primary source: HGNC:HGNC:1529
See related: Ensembl:ENSG00000182533 MIM:601253; AllianceGenome:HGNC:1529
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LQT9; MPDT; RMD2; VIP21; LGMD1C; VIP-21
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 molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]
Expression: Biased expression in heart (RPKM 7.8), esophagus (RPKM 2.8) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 3p25.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (8733802..8746758)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (8724971..8737928)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (8775488..8788444)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Caveolin and NOS in the Development of Muscular Dystrophy.
Title: Caveolin and NOS in the Development of Muscular Dystrophy.
Genetic Defect in Submucosal Gland-Associated Caveolin-3: A New Paradigm in Esophageal Adenocarcinoma Risk.
Title: Genetic Defect in Submucosal Gland-Associated Caveolin-3: A New Paradigm in Esophageal Adenocarcinoma Risk.
The T-type calcium channel Ca V 3.2 regulates bladder afferent responses to mechanical stimuli.
Title: The T-type calcium channel Ca V 3.2 regulates bladder afferent responses to mechanical stimuli.
Differential Expression of Caveolin-3, Suppression of Tumorigenicity 2, and Growth Differentiation Factor-15 Genes and Their Association with Acute Myocardial Infarction: A Cross-Sectional Study in a Multi-Specialty Hospital in Tamil Nadu.
Title: Differential Expression of Caveolin-3, Suppression of Tumorigenicity 2, and Growth Differentiation Factor-15 Genes and Their Association with Acute Myocardial Infarction: A Cross-Sectional Study in a Multi-Specialty Hospital in Tamil Nadu.
Caveolin-3 prevents swelling-induced membrane damage via regulation of ICl,swell activity.
Title: Caveolin-3 prevents swelling-induced membrane damage via regulation of I(Cl,swell) activity.
Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes.
Title: Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes.
A novel missense mutation in CAV3 gene in an Italian family with persistent hyperCKemia, myalgia and hypercholesterolemia: Double-trouble.
Title: A novel missense mutation in CAV3 gene in an Italian family with persistent hyperCKemia, myalgia and hypercholesterolemia: Double-trouble.
A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies.
Title: A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies.
Caveolin proteins electrochemical oxidation and interaction with cholesterol.
Title: Caveolin proteins electrochemical oxidation and interaction with cholesterol.
LQT9 Cav3 mutations, F97C and S141R, modulate Kv 4 and Cav 1.2 channels to contribute to action potential prolongation.
Title: Long QT syndrome caveolin-3 mutations differentially modulate K(v) 4 and Ca(v) 1.2 channels to contribute to action potential prolongation.

Submit: New GeneRIF Correction See all GeneRIFs (90)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Distal myopathy, Tateyama type MedGen: C3280443 OMIM: 614321 GeneReviews: Not available	Compare labs
Elevated circulating creatine kinase concentration MedGen: C0241005 OMIM: 123320 GeneReviews: Not available	Compare labs
Hypertrophic cardiomyopathy 1 MedGen: C3495498 OMIM: 192600 GeneReviews: Hypertrophic Cardiomyopathy Overview	Compare labs
Long QT syndrome 9 MedGen: C2678485 OMIM: 611818 GeneReviews: Long QT Syndrome Overview	Compare labs
Rippling muscle disease 2 MedGen: C1832560 OMIM: 606072 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S1597 (e-PCR), detects polymorphism
- UniSTS:5411

NoName (e-PCR)
- UniSTS:480806

RH92828 (e-PCR)
- UniSTS:90920

NoName (e-PCR)
- UniSTS:482395

NoName (e-PCR)
- UniSTS:486894

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-tubulin binding	IEA Inferred from Electronic Annotation more info
enables calcium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables connexin binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables molecular adaptor activity	IPI Inferred from Physical Interaction more info	PubMed
enables nitric-oxide synthase binding	IEA Inferred from Electronic Annotation more info
enables potassium channel inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
enables sodium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium channel regulator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in T-tubule organization	TAS Traceable Author Statement more info	PubMed
involved_in actin filament organization	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transport	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell development	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle hypertrophy	IEA Inferred from Electronic Annotation more info
involved_in caveola assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within caveola assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cholesterol homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cytoplasmic microtubule organization	IEA Inferred from Electronic Annotation more info
involved_in detection of muscle stretch	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart trabecula formation	IEA Inferred from Electronic Annotation more info
involved_in membrane raft organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle organ development	TAS Traceable Author Statement more info	PubMed
involved_in myoblast fusion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cardiac muscle hypertrophy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell growth involved in cardiac muscle cell development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell size	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of membrane depolarization during cardiac muscle cell action potential	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of potassium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of potassium ion transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein localization to cell surface	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleus localization	IEA Inferred from Electronic Annotation more info
involved_in plasma membrane organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in plasma membrane repair	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of caveolin-mediated endocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of microtubule polymerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of myotube differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ubiquitin-dependent protein catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of branching involved in mammary gland duct morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of calcium ion import	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cardiac muscle cell action potential involved in regulation of contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cytosolic calcium ion concentration	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane depolarization during cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of membrane potential	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of nerve growth factor receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of p38MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of signal transduction by receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of skeletal muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of sodium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of ventricular cardiac muscle cell membrane depolarization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info
involved_in triglyceride metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular cardiac muscle cell action potential	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in T-tubule	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with Z disc	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with caveola	IBA Inferred from Biological aspect of Ancestor more info
located_in caveola	ISS Inferred from Sequence or Structural Similarity more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
part_of dystrophin-associated glycoprotein complex	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with focal adhesion	IBA Inferred from Biological aspect of Ancestor more info
located_in intercalated disc	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane raft	ISS Inferred from Sequence or Structural Similarity more info
located_in neuromuscular junction	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: caveolin-3

Names: M-caveolin; cavolin 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008797.2 RefSeqGene

Range

4991..17956

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_329

mRNA and Protein(s)

NM_001234.5 → NP_001225.1 caveolin-3

See identical proteins and their annotated locations for NP_001225.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) is shorter than variant 1, since it lacks a differentially spliced intron located in the 3' UTR, but both transcripts encode identical proteins.

Source sequence(s)

AA993189, AC068312, AK291892, Y14747

Consensus CDS

CCDS2569.1

UniProtKB/Swiss-Prot

A8K777, P56539, Q3T1A4

UniProtKB/TrEMBL

A0A1I9UVK8

Related

ENSP00000380525.2, ENST00000397368.2

Conserved Domains (1) summary

pfam01146
Location:17 → 148

Caveolin
NM_033337.3 → NP_203123.1 caveolin-3

See identical proteins and their annotated locations for NP_203123.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) is longer than variant 2, since it includes a differentially spliced intron located in the 3' UTR, but both transcripts encode identical proteins.

Source sequence(s)

AA993189, AK291892, BC102033, BX114193

Consensus CDS

CCDS2569.1

UniProtKB/Swiss-Prot

A8K777, P56539, Q3T1A4

UniProtKB/TrEMBL

A0A1I9UVK8

Related

ENSP00000341940.2, ENST00000343849.3

Conserved Domains (1) summary

pfam01146
Location:17 → 148

Caveolin