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GENE AND PROTEIN SUMMARY

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Gene name

PMM2

Description

phosphomannomutase 2

Protein class

Enzymes, Mapped to UniProt SWISS-PROT

Protein evidence

Medium

Entrez gene summary

The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

14 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 nucleus in all three cell lines.

Reliability (Single)

Antibodies in assay

HPA040852
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Most normal tissues showed moderate cytoplasmic staining which in cases was combined with nuclear positivity. Nasopharynx, salivary glands, seminiferus duct cells and the thyroid displayed strong immunoreactivity. Cells in CNS and placenta were negative.

Tissue specificity

Staining in 61 out of 80 cell types

Reliability (Single)

Antibodies in assay

HPA040852
 

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 1
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 15
Endocrine tissues 2

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 67% of the cancers

Antibodies in assay

HPA040852
 

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

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

 

HPA040852

A-431 Skin Medium

-

Weak
A-549 Lung High

-

CACO-2 Colon High

-

HEK 293 Embryonal kidney High

-

HeLa Cervix High

-

Hep-G2 Liver High

-

MCF-7 Pleural effusion High

-

PC-3 Bone marrow High

-

RT-4 Urinary bladder High

-

U-2 OS Bone High

-

Weak
U-251 MG Brain High

-

Weak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA040852 pAb