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GENE AND PROTEIN SUMMARY

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Gene name

RNF213

Description

ring finger protein 213

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

High

Entrez gene summary

This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoplasm

Additional location(s)

Nucleoli 

Staining summary

Staining of cytoplasm in all three cell lines with additional staining of nucleoli in U-2 OS.

Reliability (Single)

Antibodies in assay

HPA003347
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

General cytoplasmic expression.

Tissue specificity

Expressed in 63 out of 82 cell types

Reliability (APE)

Low

Antibodies in assay

HPA003347, HPA026790
 

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 81% of the cancers

Antibodies in assay

HPA003347, HPA026790
 

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

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA003347

HPA026790

HPA003347

A-431 Skin High
Moderate
A-549 Lung High
CACO-2 Colon Medium
HEK 293 Embryonal kidney Medium
HeLa Cervix High
Hep-G2 Liver High
MCF-7 Pleural effusion High
PC-3 Bone marrow High
RT-4 Urinary bladder High
U-2 OS Bone High
Moderate
U-251 MG Brain Medium
Moderate

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA003347 pAb
HPA026790 pAb