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GENE AND PROTEIN SUMMARY

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Gene name

MBTPS2

Description

membrane-bound transcription factor peptidase, site 2

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Peptidases, Potential transmembrane proteins

Protein evidence

Medium

Entrez gene summary

This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic expression in most cell types of varying intensity.

Tissue specificity

Expressed in 80 out of 81 cell types

Reliability (APE)

Medium

Antibodies in assay

HPA005494, CAB009486
 

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 12
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 96% of the cancers

Antibodies in assay

HPA005494, CAB009486
 

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

HPA005494

CAB009486

 

A-431 Skin Medium

-

A-549 Lung High

-

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

-

U-251 MG Brain Medium

-

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB009486 pAb
HPA005494 pAb