Details for: CAV3

Gene ID: 859

Symbol: CAV3

Ensembl ID: ENSG00000182533

Description: caveolin 3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 27.1963
    Cell Significance Index: -12.8400
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 1.3907
    Cell Significance Index: 22.4400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.1891
    Cell Significance Index: 822.4000
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.7603
    Cell Significance Index: 18.5500
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.6833
    Cell Significance Index: 11.6800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.6320
    Cell Significance Index: 13.1100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.4566
    Cell Significance Index: 17.2900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.4253
    Cell Significance Index: 18.8100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4192
    Cell Significance Index: 32.1700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2846
    Cell Significance Index: 56.4700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.2793
    Cell Significance Index: 7.1800
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 0.2758
    Cell Significance Index: 2.6400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2607
    Cell Significance Index: 7.5100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2338
    Cell Significance Index: 14.3700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.2153
    Cell Significance Index: 5.3700
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 0.1434
    Cell Significance Index: 0.5400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.1169
    Cell Significance Index: 1.4500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1089
    Cell Significance Index: 39.0700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0997
    Cell Significance Index: 2.3900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0893
    Cell Significance Index: 1.5300
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.0882
    Cell Significance Index: 2.7900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0782
    Cell Significance Index: 22.5000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0691
    Cell Significance Index: 1.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0592
    Cell Significance Index: 109.2100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.0464
    Cell Significance Index: 0.3900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0395
    Cell Significance Index: 60.7600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0264
    Cell Significance Index: 1.4800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0251
    Cell Significance Index: 34.1500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.0226
    Cell Significance Index: 0.3800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0152
    Cell Significance Index: 28.6800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0025
    Cell Significance Index: 1.1200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0054
    Cell Significance Index: -0.1500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0069
    Cell Significance Index: -4.4100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0159
    Cell Significance Index: -3.1900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0178
    Cell Significance Index: -13.2200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0198
    Cell Significance Index: -10.8200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0238
    Cell Significance Index: -13.4200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0314
    Cell Significance Index: -4.5700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0375
    Cell Significance Index: -2.5200
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0463
    Cell Significance Index: -0.2800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0475
    Cell Significance Index: -0.6800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0544
    Cell Significance Index: -0.8000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0602
    Cell Significance Index: -10.8500
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.0697
    Cell Significance Index: -0.9400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0740
    Cell Significance Index: -15.6000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0785
    Cell Significance Index: -13.4100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0792
    Cell Significance Index: -10.8800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0914
    Cell Significance Index: -11.2400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1144
    Cell Significance Index: -11.9100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1150
    Cell Significance Index: -1.2500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1245
    Cell Significance Index: -14.2600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1266
    Cell Significance Index: -2.6500
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.1283
    Cell Significance Index: -1.7600
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1372
    Cell Significance Index: -1.9500
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.1793
    Cell Significance Index: -2.3200
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.1844
    Cell Significance Index: -2.5500
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.1862
    Cell Significance Index: -1.8300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1927
    Cell Significance Index: -6.7700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1981
    Cell Significance Index: -2.2500
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.1990
    Cell Significance Index: -2.8300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.2172
    Cell Significance Index: -5.2600
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2213
    Cell Significance Index: -2.7600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2216
    Cell Significance Index: -10.4200
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.2243
    Cell Significance Index: -1.5200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2350
    Cell Significance Index: -12.2100
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.2400
    Cell Significance Index: -2.6200
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.2444
    Cell Significance Index: -2.7000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2582
    Cell Significance Index: -5.0400
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.2654
    Cell Significance Index: -3.3500
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: -0.2677
    Cell Significance Index: -2.1300
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.2680
    Cell Significance Index: -2.5400
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.2690
    Cell Significance Index: -2.6100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.2720
    Cell Significance Index: -12.3300
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.2754
    Cell Significance Index: -2.4900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2795
    Cell Significance Index: -6.1200
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.2827
    Cell Significance Index: -2.7300
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.2894
    Cell Significance Index: -3.7900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2996
    Cell Significance Index: -9.8100
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.3007
    Cell Significance Index: -7.6600
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.3010
    Cell Significance Index: -3.8600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3031
    Cell Significance Index: -8.2500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3052
    Cell Significance Index: -10.6900
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: -0.3179
    Cell Significance Index: -2.5100
  • Cell Name: paneth cell (CL0000510)
    Fold Change: -0.3238
    Cell Significance Index: -3.3500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3245
    Cell Significance Index: -10.3400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3262
    Cell Significance Index: -8.7100
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.3323
    Cell Significance Index: -1.7400
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.3356
    Cell Significance Index: -5.0200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.3357
    Cell Significance Index: -9.5800
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: -0.3399
    Cell Significance Index: -2.7000
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.3730
    Cell Significance Index: -2.2900
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.3751
    Cell Significance Index: -2.4400
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.3815
    Cell Significance Index: -2.7400
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: -0.3820
    Cell Significance Index: -2.2000
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.3874
    Cell Significance Index: -4.5200
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.3918
    Cell Significance Index: -4.0900
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.4023
    Cell Significance Index: -4.7400
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.4155
    Cell Significance Index: -3.4300
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    Fold Change: -0.4202
    Cell Significance Index: -3.8200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4270
    Cell Significance Index: -12.2400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** CAV3 is a member of the caveolin family, characterized by its unique structure, composed of three tandem repeats of the 18-kDa caveolin protein. This protein exhibits a high degree of sequence homology with caveolin-1 and caveolin-2, but lacks the transmembrane domain present in these proteins. CAV3 is predominantly expressed in skeletal and cardiac muscle cells, as well as in certain neuronal populations, such as retinal bipolar neurons and goblet cells. **Pathways and Functions:** CAV3 is involved in a wide range of cellular processes, including: 1. **Cardiac muscle contraction:** CAV3 regulates the actin cytoskeleton, influencing muscle contraction and relaxation. 2. **Muscle organ development:** CAV3 plays a crucial role in muscle cell differentiation, fusion, and development. 3. **Cell signaling:** CAV3 interacts with various signaling molecules, including dystrophin-associated glycoproteins, connexins, and nitric oxide synthases, modulating cell growth, differentiation, and survival. 4. **Endocytosis and exocytosis:** CAV3 regulates caveolae-mediated endocytosis and exocytosis, impacting cellular homeostasis and signal transduction. 5. **Cytoskeletal organization:** CAV3 interacts with cytoskeletal proteins, such as actin and tubulin, to maintain cytoskeletal structure and function. **Clinical Significance:** Dysregulation of CAV3 has been implicated in various diseases, including: 1. **Muscular dystrophy:** Mutations in CAV3 have been linked to limb-girdle muscular dystrophy type 2B. 2. **Cardiac hypertrophy:** Overexpression of CAV3 has been observed in cardiac hypertrophy and heart failure. 3. **Neurological disorders:** Altered expression of CAV3 has been associated with neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. **Therapeutic Applications:** CAV3 represents a promising therapeutic target for the treatment of muscular and cardiac diseases. Inhibitors of CAV3 signaling pathways may offer novel therapeutic strategies for diseases characterized by dysregulated CAV3 expression. In conclusion, CAV3 is a multifunctional protein with significant implications in cardiac and muscular functions. Further research into the molecular mechanisms of CAV3 will provide valuable insights into the development of novel therapeutic strategies for diseases associated with CAV3 dysregulation.

Genular Protein ID: 3488070543

Symbol: CAV3_HUMAN

Name: Caveolin-3

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9537420

Title: Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

PubMed ID: 9537420

DOI: 10.1038/ng0498-365

PubMed ID: 9545514

Title: Molecular cloning of human caveolin 3.

PubMed ID: 9545514

DOI: 10.1016/s0925-4439(97)00095-1

PubMed ID: 9536092

Title: Caveolin-3 in muscular dystrophy.

PubMed ID: 9536092

DOI: 10.1093/hmg/7.5.871

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10988290

Title: Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members.

PubMed ID: 10988290

DOI: 10.1074/jbc.m005321200

PubMed ID: 11532985

Title: The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

PubMed ID: 11532985

DOI: 10.1093/hmg/10.17.1761

PubMed ID: 19262564

Title: SRBC/cavin-3 is a caveolin adapter protein that regulates caveolae function.

PubMed ID: 19262564

DOI: 10.1038/emboj.2009.46

PubMed ID: 21362625

Title: Caveolin-3 undergoes SUMOylation by the SUMO E3 ligase PIASy: sumoylation affects G-protein-coupled receptor desensitization.

PubMed ID: 21362625

DOI: 10.1074/jbc.m110.214270

PubMed ID: 24567387

Title: MURC/Cavin-4 facilitates recruitment of ERK to caveolae and concentric cardiac hypertrophy induced by alpha1-adrenergic receptors.

PubMed ID: 24567387

DOI: 10.1073/pnas.1315359111

PubMed ID: 26497963

Title: The coiled-coil domain of MURC/cavin-4 is involved in membrane trafficking of caveolin-3 in cardiomyocytes.

PubMed ID: 26497963

DOI: 10.1152/ajpheart.00446.2015

PubMed ID: 11001938

Title: Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.

PubMed ID: 11001938

DOI: 10.1093/oxfordjournals.hmg.a018926

PubMed ID: 10746614

Title: Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

PubMed ID: 10746614

DOI: 10.1212/wnl.54.6.1373

PubMed ID: 11251997

Title: Mutations in the caveolin-3 gene: when are they pathogenic?

PubMed ID: 11251997

DOI: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1168>3.0.co;2-o

PubMed ID: 11431690

Title: Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

PubMed ID: 11431690

DOI: 10.1038/90050

PubMed ID: 11756609

Title: A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.

PubMed ID: 11756609

DOI: 10.1212/wnl.57.12.2273

PubMed ID: 12082049

Title: Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.

PubMed ID: 12082049

DOI: 10.1136/jnnp.73.1.65

PubMed ID: 11805270

Title: Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.

PubMed ID: 11805270

DOI: 10.1212/wnl.58.2.323

PubMed ID: 12557291

Title: Consequences of a novel caveolin-3 mutation in a large German family.

PubMed ID: 12557291

DOI: 10.1002/ana.10442

PubMed ID: 12666119

Title: Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

PubMed ID: 12666119

DOI: 10.1002/ana.10501

PubMed ID: 12939441

Title: Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.

PubMed ID: 12939441

DOI: 10.1212/01.wnl.0000076486.57572.5c

PubMed ID: 14663034

Title: A CAV3 microdeletion differentially affects skeletal muscle and myocardium.

PubMed ID: 14663034

DOI: 10.1212/01.wnl.0000097320.35982.03

PubMed ID: 14672715

Title: Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.

PubMed ID: 14672715

DOI: 10.1016/j.bbrc.2003.11.101

PubMed ID: 15099591

Title: A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.

PubMed ID: 15099591

DOI: 10.1016/j.nmd.2004.01.006

PubMed ID: 15564037

Title: Two novel CAV3 gene mutations in Japanese families.

PubMed ID: 15564037

DOI: 10.1016/j.nmd.2004.08.008

PubMed ID: 15668980

Title: Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.

PubMed ID: 15668980

DOI: 10.1002/ana.20350

PubMed ID: 15580566

Title: Molecular and muscle pathology in a series of caveolinopathy patients.

PubMed ID: 15580566

DOI: 10.1002/humu.20119

PubMed ID: 16458928

Title: A new missense mutation in caveolin-3 gene causes rippling muscle disease.

PubMed ID: 16458928

DOI: 10.1016/j.jns.2005.11.032

PubMed ID: 17060380

Title: Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

PubMed ID: 17060380

DOI: 10.1161/circulationaha.106.635268

PubMed ID: 17275750

Title: Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.

PubMed ID: 17275750

DOI: 10.1016/j.hrthm.2006.11.030

Sequence Information:

  • Length: 151
  • Mass: 17259
  • Checksum: C695E14F5B8F4753
  • Sequence:
  • MMAEEHTDLE AQIVKDIHCK EIDLVNRDPK NINEDIVKVD FEDVIAEPVG TYSFDGVWKV 
    SYTTFTVSKY WCYRLLSTLL GVPLALLWGF LFACISFCHI WAVVPCIKSY LIEIQCISHI 
    YSLCIRTFCN PLFAALGQVC SSIKVVLRKE V

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.