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PGAM2

GENERAL INFORMATION

Gene name

 PGAM2

Gene description

 Phosphoglycerate mutase 2 (muscle)

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (heart muscle, skeletal muscle)
FANTOM5:Tissue enhanced (heart muscle, skeletal muscle)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression most abundant in heart and skeletal muscle.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Caution, targets protein from more than one gene. Presumed off target binding observed and disregarded.

Reliability score

 Approved based on 2 antibodies.
HPA049237 , HPA060173
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (heart muscle, skeletal muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (heart muscle, skeletal muscle)

GENE INFORMATION

Gene name

 PGAM2 (HGNC Symbol)

Synonyms

 PGAM-M

Description

 Phosphoglycerate mutase 2 (muscle) (HGNC Symbol)

Entrez gene summary

 Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]

Chromosome

 7

Cytoband

 p13

Chromosome location (bp)

 44062727 - 44065587

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000164708 (version 83.38)

Entrez gene

 5224

UniProt

 P15259 (UniProt - Evidence at protein level)

neXtProt

 NX_P15259

Antibodypedia

 PGAM2 antibodies

PROTEIN BROWSER
PGAM2-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PGAM2-001
ENSP00000297283
ENST00000297283
P15259 [Direct mapping]
Phosphoglycerate mutase 2
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Enzymes
   ENZYME proteins
   Hydrolases
   Isomerase
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004082 [bisphosphoglycerate mutase activity]
GO:0004083 [bisphosphoglycerate 2-phosphatase activity]
GO:0004619 [phosphoglycerate mutase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005829 [cytosol]
GO:0005975 [carbohydrate metabolic process]
GO:0006006 [glucose metabolic process]
GO:0006094 [gluconeogenesis]
GO:0006096 [glycolytic process]
GO:0006941 [striated muscle contraction]
GO:0007219 [Notch signaling pathway]
GO:0007283 [spermatogenesis]
GO:0008152 [metabolic process]
GO:0010035 [response to inorganic substance]
GO:0016311 [dephosphorylation]
GO:0016868 [intramolecular transferase activity, phosphotransferases]
GO:0043456 [regulation of pentose-phosphate shunt]
GO:0044281 [small molecule metabolic process]
GO:0046538 [2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity]
GO:0046689 [response to mercury ion]
GO:0048037 [cofactor binding]
GO:0061621 [canonical glycolysis]
GO:0070062 [extracellular exosome]
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 253 aa
28.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.