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PGAM2 Gene(Protein Coding)

Phosphoglycerate Mutase 2

GCID:
GC07M044062
GIFtS:
66
Genes Participants
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Aliases for PGAM2 Gene

Aliases for PGAM2 Gene

  • Phosphoglycerate Mutase 2 2 3 5
  • Muscle-Specific Phosphoglycerate Mutase 3 4
  • Phosphoglycerate Mutase 2 (Muscle) 2 3
  • Phosphoglycerate Mutase Isozyme M 3 4
  • BPG-Dependent PGAM 2 3 4
  • PGAM-M 3 4
  • PGAMM 3 4
  • EC 3.1.3.13 4
  • EC 5.4.2.11 4
  • EC 5.4.2.1 63
  • EC 5.4.2.4 4
  • GSD10 3

External Ids for PGAM2 Gene

Previous GeneCards Identifiers for PGAM2 Gene

  • GC07M043748
  • GC07M043809
  • GC07M043843
  • GC07M043875
  • GC07M044069
  • GC07M043987
  • GC07M044102

Summaries for PGAM2 Gene

Entrez Gene Summary for PGAM2 Gene

  • 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]

GeneCards Summary for PGAM2 Gene

PGAM2 (Phosphoglycerate Mutase 2) is a Protein Coding gene. Diseases associated with PGAM2 include Glycogen Storage Disease X and Glycogen Storage Disease Due To Phosphoglycerate Mutase Deficiency. Among its related pathways are Glycosaminoglycan metabolism and Glucose metabolism. GO annotations related to this gene include cofactor binding and bisphosphoglycerate mutase activity. An important paralog of this gene is PGAM4.

UniProtKB/Swiss-Prot for PGAM2 Gene

  • Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase) and EC 3.1.3.13 (phosphatase), but with a reduced activity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGAM2 Gene

Genomics for PGAM2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for PGAM2 Gene

Enhancers for PGAM2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PGAM2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PGAM2 gene promoter:

Genomic Location for PGAM2 Gene

Chromosome:
7
Start:
44,062,727 bp from pter
End:
44,065,972 bp from pter
Size:
3,246 bases
Orientation:
Minus strand

Genomic View for PGAM2 Gene

Genes around PGAM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGAM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGAM2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PGAM2 Gene

Proteins for PGAM2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PGAM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15259-PGAM2_HUMAN
    Recommended name:
    Phosphoglycerate mutase 2
    Protein Accession:
    P15259

    Protein attributes for PGAM2 Gene

    Size:
    253 amino acids
    Molecular mass:
    28766 Da
    Quaternary structure:
    • Homodimer. Interacts with ENO1.

neXtProt entry for PGAM2 Gene

Proteomics data for PGAM2 Gene at MOPED

Protein Expression for PGAM2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PGAM2 Gene

P15259:

Post-translational modifications for PGAM2 Gene

  • Ubiquitination at Lys 179 and Lys 195
  • Modification sites at PhosphoSitePlus

Other Protein References for PGAM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PGAM2 Gene

Gene Families for PGAM2 Gene

HGNC:

Protein Domains for PGAM2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PGAM2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15259

UniProtKB/Swiss-Prot:

PGAM2_HUMAN :
  • Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.
Family:
  • Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.
genes like me logo Genes that share domains with PGAM2: view

Function for PGAM2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for PGAM2 Gene

GENATLAS Biochemistry:
phosphoglycerate mutase 2,muscle,glycolysis,energy pathway
UniProtKB/Swiss-Prot CatalyticActivity:
2-phospho-D-glycerate = 3-phospho-D-glycerate.
UniProtKB/Swiss-Prot CatalyticActivity:
3-phospho-D-glyceroyl phosphate = 2,3-bisphospho-D-glycerate.
UniProtKB/Swiss-Prot CatalyticActivity:
2,3-bisphospho-D-glycerate + H(2)O = 3-phospho-D-glycerate + phosphate.
UniProtKB/Swiss-Prot Function:
Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase) and EC 3.1.3.13 (phosphatase), but with a reduced activity.

Enzyme Numbers (IUBMB) for PGAM2 Gene

Gene Ontology (GO) - Molecular Function for PGAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004082 bisphosphoglycerate mutase activity IEA --
GO:0004083 bisphosphoglycerate 2-phosphatase activity IEA --
GO:0004619 phosphoglycerate mutase activity IEA,IMP 6262916
genes like me logo Genes that share ontologies with PGAM2: view

Phenotypes for PGAM2 Gene

GenomeRNAi human phenotypes for PGAM2:
genes like me logo Genes that share phenotypes with PGAM2: view

Human Phenotype Ontology for PGAM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PGAM2 Gene

Localization for PGAM2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PGAM2 Gene COMPARTMENTS Subcellular localization image for PGAM2 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PGAM2 Gene

Pathways & Interactions for PGAM2 Gene

genes like me logo Genes that share pathways with PGAM2: view

Gene Ontology (GO) - Biological Process for PGAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006006 glucose metabolic process TAS --
GO:0006094 gluconeogenesis IEA,TAS --
GO:0006941 striated muscle contraction IMP 6262916
GO:0007219 Notch signaling pathway IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with PGAM2: view

No data available for SIGNOR curated interactions for PGAM2 Gene

Drugs & Compounds for PGAM2 Gene

Products:

  1. Drug

(4) Drugs for PGAM2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
3-Phosphoglyceric acid Experimental Pharma Target 0
Benzene Hexacarboxylic Acid Experimental Pharma Target 0
2-Phospho-D-glyceric acid Experimental Pharma 0
2-Phosphoglyceric acid Experimental Pharma 0

(5) Additional Compounds for PGAM2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2,3-Diphosphoglyceric acid
  • (2R)-2,3-bis(phosphonooxy)-Propanoate
  • (2R)-2,3-bis(phosphonooxy)-Propanoic acid
  • (R)-2,3-bis(phosphonooxy)-Propanoate
  • (R)-2,3-bis(phosphonooxy)-Propanoic acid
  • 2,3-Bis(phosphonooxy)-Propanoate
 138-81-8
Glyceric acid 1,3-biphosphate
  • 1,3-Biphosphoglycerate
  • 1,3-Biphosphoglyceric acid
  • 1,3-Bis-phosphoglycerate
  • 1,3-Bisphosphoglycerate
  • 1,3-Diphosphateglycerate
 1981-49-3
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
 7664-38-2
Water
  • Dihydrogen oxide
  • Steam
 7732-18-5
genes like me logo Genes that share compounds with PGAM2: view

Transcripts for PGAM2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for PGAM2 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(62) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PGAM2 Gene

Phosphoglycerate mutase 2 (muscle):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PGAM2 Gene

No ASD Table

Relevant External Links for PGAM2 Gene

GeneLoc Exon Structure for
PGAM2
ECgene alternative splicing isoforms for
PGAM2

Expression for PGAM2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for PGAM2 Gene

mRNA expression in normal human tissues for PGAM2 Gene
mRNA expression by BioGPS for PGAM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PGAM2 Gene

This gene is overexpressed in Tonsil (34.3), Heart (8.2), and Oral epithelium (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PGAM2 Gene



SOURCE GeneReport for Unigene cluster for PGAM2 Gene Hs.632642

mRNA Expression by UniProt/SwissProt for PGAM2 Gene

P15259-PGAM2_HUMAN
Tissue specificity: Expressed in the heart and muscle. Not found in the liver and brain.
genes like me logo Genes that share expression patterns with PGAM2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for PGAM2 Gene

Orthologs for PGAM2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PGAM2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia PGAM2 35
  • 88.67 (n)
  • 94.47 (a)
PGAM2 36
  • 95 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia PGAM2 35
  • 91.17 (n)
  • 95.26 (a)
PGAM2 36
  • 95 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Pgam2 35
  • 86.3 (n)
  • 92.09 (a)
Pgam2 16
Pgam2 36
  • 92 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia PGAM2 35
  • 99.87 (n)
  • 100 (a)
PGAM2 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Pgam2 35
  • 87.48 (n)
  • 93.68 (a)
oppossum
(Monodelphis domestica)
 Mammalia PGAM2 36
  • 91 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PGAM2 36
  • 74 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PGAM2 36
  • 90 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pgam2 35
  • 76 (n)
  • 85.2 (a)
zebrafish
(Danio rerio)
 Actinopterygii pgam2 35
  • 76.46 (n)
  • 86.51 (a)
pgam2 36
  • 85 (a)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8690 35
fruit fly
(Drosophila melanogaster)
 Insecta CG7059 37
  • 42 (a)
Pglym78 37
  • 67 (a)
Pglym87 37
  • 66 (a)
Pglym87 35
  • 69.47 (n)
  • 68.8 (a)
Pglym78 36
  • 67 (a)
 ManyToMany
Pglym87 36
  • 59 (a)
 ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_ACR056W 35
  • 53.28 (n)
  • 51.23 (a)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E11859g 35
  • 53.01 (n)
  • 52.05 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GPM1 35
  • 50.82 (n)
  • 52.87 (a)
GPM1 36
  • 52 (a)
 OneToMany
GPM1 38
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.4977 36
  • 64 (a)
 OneToMany
Species with no ortholog for PGAM2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PGAM2 Gene

ENSEMBL:
Gene Tree for PGAM2 (if available)
TreeFam:
Gene Tree for PGAM2 (if available)

Paralogs for PGAM2 Gene

Paralogs for PGAM2 Gene

(3) SIMAP similar genes for PGAM2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PGAM2: view

Variants for PGAM2 Gene

Sequence variations from dbSNP and Humsavar for PGAM2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_006088 Glycogen storage disease 10 (GSD10)
VAR_006089 Glycogen storage disease 10 (GSD10)
VAR_013103 Glycogen storage disease 10 (GSD10)
rs1129670 -- 44,062,847(+) AGCCC(A/C/G/T)CCAAG reference, missense, utr-variant-3-prime
rs75495329 -- 44,062,235(+) AACTT(C/G)CCCTC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for PGAM2 Gene

Variant ID Type Subtype PubMed ID
nsv428165 CNV Gain 18775914
nsv830980 CNV Loss 17160897
nsv8082 CNV Gain 18304495
nsv887996 CNV Loss 21882294
nsv470210 CNV Loss 18288195

Variation tolerance for PGAM2 Gene

Residual Variation Intolerance Score: 61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.54; 64.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PGAM2 Gene

Human Gene Mutation Database (HGMD)
PGAM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGAM2 Gene

Disorders for PGAM2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PGAM2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease x
  • phosphoglycerate mutase deficiency
glycogen storage disease due to phosphoglycerate mutase deficiency
  • muscle phosphoglycerate mutase deficiency
phosphoglycerate mutase deficiency
  • glycogen storage disease x
greig cephalopolysyndactyly syndrome
  • polysyndactyly with peculiars skull shape
- elite association - COSMIC cancer census association via MalaCards
Search PGAM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PGAM2_HUMAN
  • Glycogen storage disease 10 (GSD10) [MIM:261670]: A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance. {ECO:0000269 PubMed:10545043, ECO:0000269 PubMed:8447317}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PGAM2 Gene

myopathy, exercise-related

Relevant External Links for PGAM2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PGAM2
genes like me logo Genes that share disorders with PGAM2: view

Publications for PGAM2 Gene

  1. Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. (PMID: 10545043) Hadjigeorgiou G.M. … DiMauro S. (Neuromuscul. Disord. 1999) 3 4 23 67
  2. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. (PMID: 8447317) Tsujino S. … Dimauro S. (Am. J. Hum. Genet. 1993) 3 23
  3. Isolation and characterization of the gene encoding the muscle- specific isozyme of human phosphoglycerate mutase. (PMID: 2145198) Castella-Escola J. … Cohen-Solal M. (Gene 1990) 3 23
  4. In situ mapping of the muscle-specific form of phosphoglycerate mutase gene to human chromosome 7p12-7p13. (PMID: 2153628) Castella-Escola J. … Cohen-Solal M. (Hum. Genet. 1990) 3 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for PGAM2 Gene

Sources for PGAM2 Gene

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