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GENE AND PROTEIN SUMMARY

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Gene name

AFF2

Description

AF4/FMR2 family, member 2

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Transcription factors

Protein evidence

Medium

Entrez gene summary

This gene encodes a putative transcriptional activator that is a member of the AF4FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked mental retardation. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2009]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus, Cytoplasm

Additional location(s)

 

Staining summary

Staining of nucleus and cytoplasm in all three cell lines.

Reliability (Single)

Antibodies in assay

HPA003139
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Weak to moderate cytoplasmic staining was observed in most normal tissues. Heart muscle showed additional membranous positivity.

Tissue specificity

Staining in 42 out of 76 cell types

Reliability (Single)

Antibodies in assay

HPA003139
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 9
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 42% of the cancers

Antibodies in assay

HPA003139
 

Tissue

Cancer staining

Normal tissue
staining

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

Tissue

Cancer staining

Normal tissue
staining

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

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA003139

HPA003139

A-431 Skin Not detected
Moderate
A-549 Lung Not detected
CACO-2 Colon Not detected
HEK 293 Embryonal kidney Low
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 Low
Weak
U-251 MG Brain Low
Weak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA003139 pAb