PGAM2 - phosphoglycerate mutase 2 Gene

Also Known as GSD10; PGAMM; PGAM-M

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5224

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 References 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 References 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

His_Phos_1: Histidine phosphatase superfamily (branch 1) (5 - 191)

  • 0
  • 100
  • 200
  • 253 a.a.
Protein Preferred Names Protein Names

phosphoglycerate mutase 2

  • BPG-dependent PGAM 2

PGAM2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10375 PGAM2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21018 Pgam2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27535 Pgam2 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others PGAM2 NCBI