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GENE AND PROTEIN SUMMARY

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Gene name

CAV3

Description

caveolin 3

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

High

Entrez gene 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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

2 in total
2 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

High cytoplasmic and membranous staining in myocytes. Also expressed in gastrointestinal tract but at lower levels.

Tissue specificity

Expressed in 11 out of 79 cell types

Reliability (APE)

High

Antibodies in assay

CAB017518, CAB018557
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 12
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 1
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 11% of the cancers

Antibodies in assay

CAB017518, CAB018557
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Not detected
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Not detected

-

-

A-549 Lung Not detected

-

-

CACO-2 Colon Not detected

-

-

HEK 293 Embryonal kidney Not detected

-

-

HeLa Cervix Not detected

-

-

Hep-G2 Liver Not detected

-

-

MCF-7 Pleural effusion Not detected

-

-

PC-3 Bone marrow Not detected

-

-

RT-4 Urinary bladder Not detected

-

-

U-2 OS Bone Not detected

-

-

U-251 MG Brain Not detected

-

-

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB017518 mAb
CAB018557 mAb