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GENE AND PROTEIN SUMMARY

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Gene name

RYR2

Description

ryanodine receptor 2 (cardiac)

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Transporters

Protein evidence

Medium

Entrez gene summary

This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

6 in total
5 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Plasma membrane, Cytoplasm, Cytoskeleton (Actin filaments)

Additional location(s)

Nucleus but not nucleoli 

Staining summary

Staining of plasma membrane/cytoplasm in all three cell lines. Additional staining of nucleus in A-431 and cytoskeleton (actin filaments) in U-251 MG and U-2 OS.

Reliability (Single)

Antibodies in assay

HPA020028
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Selective cytoplasmic expression in squamous- and respiratory epithelium, urothelium, CNS, testes and striated muscle.

Tissue specificity

Expressed in 20 out of 82 cell types

Reliability (APE)

Low

Antibodies in assay

CAB006834, HPA016697, HPA020028
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
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 36% of the cancers

Antibodies in assay

CAB006834, HPA016697, HPA020028
 

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

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB006834

HPA016697

HPA020028

HPA020028

A-431 Skin Not detected
Weak
A-549 Lung Low
CACO-2 Colon Low
HEK 293 Embryonal kidney Medium
HeLa Cervix Low
Hep-G2 Liver Not detected

-

MCF-7 Pleural effusion Not detected
PC-3 Bone marrow Low
RT-4 Urinary bladder Not detected
U-2 OS Bone Low
Moderate
U-251 MG Brain Low

-

Moderate

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB006834 pAb
HPA016697 pAb
HPA020028 pAb