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GENE AND PROTEIN SUMMARY

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Gene name

BPGM

Description

2,3-bisphosphoglycerate mutase

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Plasma proteins

Protein evidence

High

Entrez gene summary

2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus, Nucleoli

Additional location(s)

Cytoplasm, Cytoskeleton (Intermediate filaments) 

Staining summary

Mainly localized to the nucleus and nucleolus.

Reliability (APE)

Medium

Antibodies in assay

HPA016493, HPA028735
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Selective staining in placental trophoblasts and ovarian follicle cells.

Tissue specificity

Expressed in 2 out of 83 cell types

Reliability (APE)

High

Antibodies in assay

HPA016493, HPA028735
 

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 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 15
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 23% of the cancers

Antibodies in assay

HPA016493, HPA028735
 

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

HPA016493

HPA028735

HPA016493

HPA028735

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

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA016493 pAb
HPA028735 pAb