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GENE AND PROTEIN SUMMARY

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Gene name

MECP2

Description

methyl CpG binding protein 2 (Rett syndrome)

Protein class

Candidate cancer biomarkers, Mapped to UniProt SWISS-PROT, Transcription factors

Entrez gene summary

DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. [provided by RefSeq, Jul 2009]

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus

Additional location(s)

 

Staining summary

Staining of nuclei in all three cell lines.

Reliability (Single)

Antibodies in assay

HPA000593
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Ubiquitous nuclear expression at variable levels.

Tissue specificity

Expressed in 64 out of 64 cell types

Reliability (APE)

High

Antibodies in assay

HPA000593, HPA001341
 

Organ

No of cell types

Protein expression

CNS (brain) 9
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 11
Respiratory (lung) 4
Cardiovascular 1
Female tissues 9
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 4
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 68% of the cancers

Antibodies in assay

HPA000593, HPA001341
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Cervical cancer
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Malignant carcinoid
 
Malignant glioma
 
 
 
Malignant lymphoma
 
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Malignant 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 level category

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA000593

HPA001341

HPA000593

A-431 Skin High

-

Strong
U-2 OS Bone Medium
Strong
U-251 MG Brain Medium
Strong

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA000593 pAb
HPA001341 pAb