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GENE AND PROTEIN SUMMARY

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Gene name

MEF2D

Description

myocyte enhancer factor 2D

Protein class

Mapped to UniProt SWISS-PROT, Transcription factors

Protein evidence

High

Entrez gene summary

This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus but not nucleoli

Additional location(s)

Vesicles 

Staining summary

Mainly localized to the nucleus but excluded from the nucleolus. Possibly also localized to vesicles.

Reliability (APE)

Medium

Antibodies in assay

HPA004807, HPA007114
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

General nuclear expression.

Tissue specificity

Expressed in 80 out of 81 cell types

Reliability (APE)

High

Antibodies in assay

HPA004807, HPA007114
 

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 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 91% of the cancers

Antibodies in assay

HPA004807, HPA007114
 

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

HPA004807

HPA007114

HPA004807

HPA007114

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

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA004807 pAb
HPA007114 pAb