PGAM2 - phosphoglycerate mutase 2 Gene

Homo sapiens

Also known as GSD10; PGAMM; PGAM-M

Gene ID: 5224 | Gene type: protein coding

About PGAM2

Cytogenetic location: 7p13 Genomic coordinates (GRCh38): 7:44,062,727-44,065,567 (from NCBI)

This gene has 1 transcript (splice variant), 197 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in heart (RPKM 250.4), testis (RPKM 58.7) and 2 other tissues.

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]

PGAM2 Products(1)

mRNA	Protein	Name
NM_000290.4	NP_000281.2	phosphoglycerate mutase 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables phosphoglycerate mutase activity	EXP EXP: Inferred from Experiment	4827367	GOA
enables phosphoglycerate mutase activity	IMP IMP: Inferred from mutant phenotype	6262916	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in glycolytic process	IMP IMP: Inferred from mutant phenotype	6262916	GOA
involved in striated muscle contraction	IMP IMP: Inferred from mutant phenotype	6262916	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PGAM2 Protein Structure

His_Phos_1

0
100
200
253 a.a.

Protein Preferred Names

Protein Names

phosphoglycerate mutase 2

BPG-dependent PGAM 2

PGAM2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PGAM2	P15259	CLVS2	Homo sapiens	Q5SYC1	Y2H Prey Pooling	32296183
Intra	PGAM2	P15259	CLVS2	Homo sapiens	Q5SYC1	Validated Y2H	32296183
Intra	PGAM2	P15259	CLVS2	Homo sapiens	Q5SYC1	Y2H Array	32296183
Intra	PGAM2	P15259	BPGM	Homo sapiens	P07738	Y2H Array	32296183
Intra	PGAM2	P15259	BPGM	Homo sapiens	P07738	Anti Tag CoIP	28514442
Intra	PGAM2	P15259	BPGM	Homo sapiens	P07738	Anti Tag CoIP	33961781
Intra	PGAM2	P15259	BPGM	Homo sapiens	P07738	Y2H Prey Pooling	32296183
Intra	PGAM2	P15259	PGAM1	Homo sapiens	P18669	Anti Tag CoIP	33961781
Intra	PGAM2	P15259	KATNAL1	Homo sapiens	Q9BW62	Validated Y2H	32296183
Intra	PGAM2	P15259	PGAM2	Homo sapiens	P15259	Y2H Prey Pooling	32296183
Intra	PGAM2	P15259	DYNC1LI1	Homo sapiens	Q9Y6G9	Validated Y2H	32296183
Intra	PGAM2	P15259	PGAM4	Homo sapiens	Q8N0Y7	Anti Tag CoIP	33961781
Intra	PGAM2	P15259	PGAM2	Homo sapiens	P15259	Validated Y2H	32296183
Intra	PGAM2	P15259	PGAM4	Homo sapiens	Q8N0Y7	Anti Tag CoIP	28514442
Intra	PGAM2	P15259	PGAM2	Homo sapiens	P15259	Y2H Array	32296183
Intra	PGAM2	P15259	PGAM1	Homo sapiens	P18669	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Glycogen Storage Disease X

Myopathy Due To Phosphoglycerate Mutase Deficiency	GSD10
Pgamm Deficiency	Gsd X
Muscle Phosphoglycerate Mutase Deficiency	Glycogen Storage Disease Type X
Phosphoglycerate Mutase Deficiency	Gsdx
Pgam Deficiency	Phosphoglycerate Mutase, Muscle, Deficiency Of
Deficiency Mutase Phosphoglycerate	Glycogen Storage Disease Due To Phosphoglycerate Mutase Deficiency
Gsd Due To Phosphoglycerate Mutase Deficiency	Gsd Type 10
Glycogenosis Due To Phosphoglycerate Mutase Deficiency	Glycogen Storage Disease 10
Storage Disease, Glycogen, Type X

Glycogen Storage Disease

Glycogenosis	Glycogenoses
Gsd	Storage Disease, Glycogen
Gsd - [Glycogen Storage Disease]	Glycogen Thesaurismosis
Diffuse Glycogenosis	Generalised Glycogen Storage Disease
Generalised Glycogenosis	Generalised Glycogen Storage Disease Of Infants
Glycogen Synthase Deficiency

Myoglobinuria

Myopathy

Muscular Diseases

Myopathies

Chronic Polyneuropathy

Inclusion Conjunctivitis

Chlamydial Conjunctivitis	Inclusion Blennorrhoea
Paratrachoma	Adult Inclusion Conjunctivitis
Inclusion Blenorrhea	Conjunctivitis, Inclusion
Neonatal Chlamydial Conjunctivitis	Inclusion Conjunctivitis Of The Adult
Chronic Conjunctivitis Due To Chlamydia Trachomatis	Inclusion Conjunctivitis Due To Chlamydia Trachomatis
Acute Follicular Conjunctivitis, Chlamydial	Adult Chlamydial Keratoconjunctivitis

Glycogen Storage Disease Vii

Glycogen Storage Disease Type Vii	Muscle Phosphofructokinase Deficiency
Tarui Disease	GSD7
Pfkm Deficiency	Gsd Vii
Glycogen Storage Disease, Type Vii	Glycogen Storage Disease Type 7
Phosphofructokinase Deficiency	Glycogenosis Type Vii
Phosphofructokinase Myopathy	Glycogenosis 7
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Gsd Due To Muscle Phosphofructokinase Deficiency
Gsd Type 7	Gsd Type Vii
Glycogenosis Due To Muscle Phosphofructokinase Deficiency	Glycogenosis Type 7
Glycogen Storage Disease 7	Gsd-Vii
Storage Disease, Glycogen, Type Vii

Glycogen Storage Disease V

Mcardle Disease	Myophosphorylase Deficiency
Glycogen Storage Disease Type V	Muscle Glycogen Phosphorylase Deficiency
Pygm Deficiency	Gsd V
Glycogen Storage Disease, Type V	Glycogenosis Type V
Glycogen Storage Disease Type 5	GSD5
Pygmy	Mcardle'S Disease
Mcardle Type Glycogen Storage Disease	Gsd Type V
Pygmy, African	Gsdv
Gsd 5	Glycogenosis 5
Mcardle Syndrome	Muscle Phosphorylase Deficiency
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Gsd Due To Muscle Glycogen Phosphorylase Deficiency
Gsd Type 5	Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency
Glycogenosis Type 5	Glycogen Storage Disease 5
Gsd-V	Mcardles Disease
Storage Disease, Glycogen, Type V

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10375	PGAM2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PGAM2	VGNC	VGNC:32779
Canis familiaris	PGAM2	VGNC	VGNC:44451
Mus musculus	PGAM2	MGD	MGI:1933118
Felis catus	PGAM2	VGNC	VGNC:68811
Macaca mulatta	PGAM2	VGNC	VGNC:81738
Rattus norvegicus	PGAM2	RGD	RGD:3313

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