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GENE AND PROTEIN SUMMARY

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Gene name

PSEN2

Description

presenilin 2 (Alzheimer disease 4)

Protein class

Mapped to UniProt SWISS-PROT, Peptidases, Potential transmembrane proteins, Potentially secreted proteins, Transporters

Protein evidence

Medium

Entrez gene summary

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

10 in total
9 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)

 

Staining summary

Staining of nucleus in all three cell lines.

Reliability (Single)

Antibodies in assay

CAB013634
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Most of the normal cells displayed moderate cytoplasmic positivity. Hepatocytes, cells in ductus seminiferus and glandular cells of gastrointestinal tract, gall bladder and parathyroid showed strong cytoplasmic positivity. The non-neuronal cells of the central nervous system were negative.

Tissue specificity

Staining in 75 out of 81 cell types

Reliability (Single)

Antibodies in assay

CAB013634
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 99% of the cancers

Antibodies in assay

CAB013634
 

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

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB013634

CAB013634

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

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB013634 msAb