Human Gene PGAM2 (ENST00000297283.4_7) from GENCODE V47lift37
  Description: phosphoglycerate mutase 2 (from RefSeq NM_000290.4)
Gencode Transcript: ENST00000297283.4_7
Gencode Gene: ENSG00000164708.6_9
Transcript (Including UTRs)
   Position: hg19 chr7:44,102,326-44,105,166 Size: 2,841 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr7:44,102,363-44,105,128 Size: 2,766 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:44,102,326-44,105,166)mRNA (may differ from genome)Protein (253 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PGAM2_HUMAN
DESCRIPTION: RecName: Full=Phosphoglycerate mutase 2; EC=3.1.3.13; EC=5.4.2.1; EC=5.4.2.4; AltName: Full=BPG-dependent PGAM 2; AltName: Full=Muscle-specific phosphoglycerate mutase; AltName: Full=Phosphoglycerate mutase isozyme M; Short=PGAM-M;
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.
CATALYTIC ACTIVITY: 2-phospho-D-glycerate = 3-phospho-D-glycerate.
CATALYTIC ACTIVITY: 3-phospho-D-glyceroyl phosphate = 2,3- bisphospho-D-glycerate.
CATALYTIC ACTIVITY: 2,3-bisphospho-D-glycerate + H(2)O = 3- phospho-D-glycerate + phosphate.
SUBUNIT: Homodimer.
TISSUE SPECIFICITY: In mammalian tissues there are two types of phosphoglycerate mutase isozymes: type-M in muscles and type-B in other tissues.
DISEASE: Defects in PGAM2 are the cause of glycogen storage disease type 10 (GSD10) [MIM:261670]. A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps and excercise intolerance.
SIMILARITY: Belongs to the phosphoglycerate mutase family. BPG- dependent PGAM subfamily.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PGAM2";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PGAM2
Diseases sorted by gene-association score: glycogen storage disease x* (1669), phosphoglycerate mutase deficiency* (419), myoglobinuria (8), greig cephalopolysyndactyly syndrome (7), myopathy (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.9038-0.155 Picture PostScript Text
3' UTR -14.8037-0.400 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013078 - His_Pase_superF_clade-1
IPR001345 - PG/BPGM_mutase_AS
IPR005952 - Phosphogly_mut1

Pfam Domains:
PF00300 - Histidine phosphatase superfamily (branch 1)

SCOP Domains:
53254 - Phosphoglycerate mutase-like

ModBase Predicted Comparative 3D Structure on P15259
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004082 bisphosphoglycerate mutase activity
GO:0004619 phosphoglycerate mutase activity
GO:0016787 hydrolase activity
GO:0016853 isomerase activity
GO:0016868 intramolecular transferase activity, phosphotransferases
GO:0046538 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity
GO:0048037 cofactor binding

Biological 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:0043456 regulation of pentose-phosphate shunt
GO:0046689 response to mercury ion
GO:0061621 canonical glycolysis

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC073741 - Homo sapiens phosphoglycerate mutase 2 (muscle), mRNA (cDNA clone MGC:88743 IMAGE:2823398), complete cds.
BC001904 - Homo sapiens phosphoglycerate mutase 2 (muscle), mRNA (cDNA clone MGC:2269 IMAGE:3535570), complete cds.
M18172 - Human phosphoglycerate mutase muscle-specific subunit mRNA, complete cds.
KJ891788 - Synthetic construct Homo sapiens clone ccsbBroadEn_01182 PGAM2 gene, encodes complete protein.
KR709830 - Synthetic construct Homo sapiens clone CCSBHm_00006454 PGAM2 (PGAM2) mRNA, encodes complete protein.
KR709831 - Synthetic construct Homo sapiens clone CCSBHm_00006455 PGAM2 (PGAM2) mRNA, encodes complete protein.
KR709832 - Synthetic construct Homo sapiens clone CCSBHm_00006456 PGAM2 (PGAM2) mRNA, encodes complete protein.
JD180648 - Sequence 161672 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY66-399 - gluconeogenesis
PWY66-400 - glycolysis
PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle

Reactome (by CSHL, EBI, and GO)

Protein P15259 (Reactome details) participates in the following event(s):

R-HSA-71445 2-Phospho-D-glycerate <=> 3-Phospho-D-glycerate
R-HSA-71654 3-Phospho-D-glycerate <=> 2-Phospho-D-glycerate
R-HSA-70263 Gluconeogenesis
R-HSA-70171 Glycolysis
R-HSA-70326 Glucose metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000297283.1, ENST00000297283.2, ENST00000297283.3, NM_000290, P15259, PGAM2_HUMAN, PGAMM, uc317lze.1, uc317lze.2
UCSC ID: ENST00000297283.4_7
RefSeq Accession: NM_000290.4
Protein: P15259 (aka PGAM2_HUMAN or PMG2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.