Aliases for PGAM2 Gene
Aliases for PGAM2 Gene
External Ids for PGAM2 Gene
- HGNC: 8889
- Entrez Gene: 5224
- Ensembl: ENSG00000164708
- OMIM: 612931
- UniProtKB: P15259
Previous GeneCards Identifiers for PGAM2 Gene
- GC07M043748
- GC07M043809
- GC07M043843
- GC07M043875
- GC07M044069
- GC07M043987
- GC07M044102
Summaries 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 Phosphoglycerate Mutase Deficiency. Among its related pathways are Citrate cycle (TCA cycle) and Glucose metabolism. GO annotations related to this gene include cofactor binding and bisphosphoglycerate mutase activity. An important paralog of this gene is PGAM1.
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), but with a reduced activity.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGAM2 Gene
Genomics for PGAM2 Gene
Regulatory Elements for PGAM2 Gene
Enhancers for PGAM2 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around PGAM2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the PGAM2 gene promoter:
Regulatory Element Products
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:
-
- 7p13 by Ensembl
- 7p13 by Entrez Gene
- 7p13 by HGNC
PGAM2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PGAM2 Gene
Proteins for PGAM2 Gene
-
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.
Protein Expression for PGAM2 Gene
Selected DME Specific Peptides for PGAM2 Gene
- P15259:
-
- RAIRTLW
- GLNKAETA
- AHGNSLR
- VLIAAHGNS
- SVLKRAI
- LNERHYG
Post-translational modifications for PGAM2 Gene
Other Protein References for PGAM2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for PGAM2
-
Cloud-Clone Corp. Antibodies for PGAM2
- Invitrogen Antibodies for PGAM2
- antibodies-online Antibodies for PGAM2: See all 64
- GeneTex PGAM2 antibody for PGAM2
Protein Products
-
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- ProSpec Recombinant Proteins for PGAM2
-
Cloud-Clone Corp. Proteins for PGAM2
- antibodies-online Proteins for PGAM2: See all 10
- Search antibodies-online for peptides
- GeneTex Proteins for PGAM2
Assay Products
- antibodies-online Kits for PGAM2: See all 29
Domains & Families for PGAM2 Gene
Gene Families for PGAM2 Gene
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
P15259UniProtKB/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.
Function for PGAM2 Gene
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 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), but with a reduced activity.
Enzyme Numbers (IUBMB) for PGAM2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004082 | bisphosphoglycerate mutase activity | IEA | -- |
| GO:0004619 | phosphoglycerate mutase activity | IMP | 6262916 |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0016853 | isomerase activity | IEA | -- |
| GO:0016868 | intramolecular transferase activity, phosphotransferases | IEA | -- |
Phenotypes for PGAM2 Gene
- GenomeRNAi human phenotypes for PGAM2:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased ionizing radiation sensitivity
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased IL-8 secretion
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased homologous recombination repair frequency
- Increased Nanog expression
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for PGAM2 gene
-
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- Search ViGene Biosciences for PGAM2
CRISPR Products
-
OriGene CRISPR knockouts for PGAM2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PGAM2
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miRNA Products
- Search ViGene Biosciences for PGAM2
Inhibitory RNA Products
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-
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Clone Products
-
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for PGAM2
-
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-
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No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PGAM2 Gene
Localization for PGAM2 Gene
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 5 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 21630459 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0070062 | extracellular exosome | IDA | 23533145 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for PGAM2 Gene
Pathways & Interactions for PGAM2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glucose metabolism |
.52
.46
|
.35
.01
|
| 2 | Carbon metabolism | ||
| 3 | Metabolism |
.37
|
|
| 4 | Central carbon metabolism in cancer | ||
| 5 | Glucagon signaling pathway | ||
Pathways by source for PGAM2 Gene
4 BioSystems pathways for PGAM2 Gene
5 Reactome pathways for PGAM2 Gene
7 KEGG pathways for PGAM2 Gene
2 GeneGo (Thomson Reuters) pathways for PGAM2 Gene
Interacting Proteins for PGAM2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006094 | gluconeogenesis | TAS | -- |
| GO:0006096 | glycolytic process | IMP | 6262916 |
| GO:0006941 | striated muscle contraction | IMP | 6262916 |
| GO:0007219 | Notch signaling pathway | IEA | -- |
| GO:0007283 | spermatogenesis | IEA | -- |
No data available for SIGNOR curated interactions for PGAM2 Gene
Drugs & Compounds for PGAM2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 2,3-Diphosphoglyceric acid |
|
138-81-8 |
|
|||
| 2-Phosphoglyceric acid |
|
2553-59-5 |
|
|||
| Glyceric acid 1,3-biphosphate |
|
1981-49-3 |
|
Transcripts for PGAM2 Gene
mRNA/cDNA for PGAM2 Gene
- (1) 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
CRISPR Products
-
OriGene CRISPR knockouts for PGAM2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PGAM2
- GenScript: Design CRISPR guide RNA sequences for PGAM2
miRNA Products
- Search ViGene Biosciences for PGAM2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PGAM2
- Browse OriGene Inhibitory RNA Products For PGAM2
-
ViGene Biosciences ready-to-package AAV shRNAs for PGAM2 gene
Clone Products
-
OriGene ORF clones in human for PGAM2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PGAM2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PGAM2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PGAM2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Expression for PGAM2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Limb (Muscoskeletal System)
- Interzone Cells Stylopod Synovial Joint
- Autopod
- Stylopod Synovial Joint
- Stylopod
- Zeugopod
- Brain (Nervous System)
-
Heart (Cardiovascular System)
- Primitive Heart Tube Cells Primitive Heart Tube
- Cardiac Fibroblasts Myocardium
- Heart Tube
- Neural Tube (Nervous System)
-
Cartilage (Muscoskeletal System)
- Interzone Cells Stylopod Synovial Joint
-
Testis (Reproductive System)
- Mature Sertoli Cells Seminiferous Tubules
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
- Gut Tube (Gastrointestinal Tract)
- Lower Urinary Tract (Urinary System)
- Thymus (Hematopoietic System)
- Eye (Sensory Organs)
-
Skeletal Muscle (Muscoskeletal System)
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
NURSA nuclear receptor signaling pathways regulating expression of PGAM2 Gene:
PGAM2SOURCE GeneReport for Unigene cluster for PGAM2 Gene:
Hs.632642mRNA 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.
Evidence on tissue expression from TISSUES for PGAM2 Gene
- Muscle(4.3)
- Lung(4.2)
- Heart(3.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PGAM2 Gene
Germ Layers:
- mesoderm
Systems:
- skeletal muscle
- urinary
Organs:
Abdomen:
- kidney
Pelvis:
- ureter
- urinary bladder
Primer Products
-
OriGene qPCR primer pairs for PGAM2
-
OriGene qPCR primer pairs and template standards for PGAM2
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PGAM2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | PGAM2 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PGAM2 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PGAM2 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pgam2 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Pgam2 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PGAM2 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PGAM2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pgam2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pgam2 34 35 |
|
||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8690 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Pglym87 36 34 35 |
|
||
| Pglym78 36 35 |
|
||||
| CG7059 36 |
|
|
|||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ACR056W 34 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E11859g 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GPM1 34 35 37 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.4977 35 |
|
OneToMany |
- Species where no ortholog for PGAM2 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for PGAM2 Gene
Variants for PGAM2 Gene
| SNP ID | Clin | Chr 07 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs104894030 | Pathogenic, Glycogen storage disease 10 (GSD10) [MIM:261670] | 44,065,264(-) | CAATG(A/C)GCGGC | reference, missense | |
| rs104894034 | Pathogenic, Glycogen storage disease 10 (GSD10) [MIM:261670] | 44,065,262(-) | ATGAG(C/T)GGCAT | reference, missense | |
| rs77938727 | Pathogenic, Glycogen storage disease 10 (GSD10) [MIM:261670] | 44,065,240(+) | TGAGG(C/T)CTGTG | reference, missense | |
| rs10250779 | Pathogenic | 44,065,297(-) | GATGT(A/C/G)GCTGC | reference, stop-gained | |
| rs111656877 | Likely benign | 44,065,314(+) | GTGCC(A/G)TCCAG | reference, synonymous-codon |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGAM2 Gene
Disorders for PGAM2 Gene
(3) 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 |
|
|
| greig cephalopolysyndactyly syndrome |
|
|
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
Publications for PGAM2 Gene
- 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 22 64
- The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. (PMID: 8447317) Tsujino S. … Dimauro S. (Am. J. Hum. Genet. 1993) 3 4 22 64
- 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 4 22 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- 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 22 64
Products for PGAM2 Gene
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- antibodies-online Antibodies for PGAM2: See all 64
- antibodies-online Kits for PGAM2: See all 29
- antibodies-online Proteins for PGAM2: See all 10
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- Horizon Cell Lines for PGAM2
- Cyagen custom Knockout/knockin (KOKI) mouse models for PGAM2
- VectorBuilder custom plasmid, inducible vectors for PGAM2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PGAM2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for PGAM2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
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