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PGAM2 (phosphoglycerate mutase 2 (muscle))

Identity

Other namesGSD10
PGAM-M
PGAMM
HGNC (Hugo) PGAM2
LocusID (NCBI) 5224
Atlas_Id 46953
Location 7p13
Location_base_pair Starts at 44102326 and ends at 44105186 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)PGAM2   8889
Cards
Entrez_Gene (NCBI)PGAM2  5224  phosphoglycerate mutase 2 (muscle)
GeneCards (Weizmann)PGAM2
Ensembl hg19 (Hinxton)ENSG00000164708 [Gene_View]  chr7:44102326-44105186 [Contig_View]  PGAM2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000164708 [Gene_View]  chr7:44102326-44105186 [Contig_View]  PGAM2 [Vega]
ICGC DataPortalENSG00000164708
TCGA cBioPortalPGAM2
AceView (NCBI)PGAM2
Genatlas (Paris)PGAM2
WikiGenes5224
SOURCE (Princeton)PGAM2
Genomic and cartography
GoldenPath hg19 (UCSC)PGAM2  -     chr7:44102326-44105186 -  7p13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PGAM2  -     7p13   [Description]    (hg38-Dec_2013)
EnsemblPGAM2 - 7p13 [CytoView hg19]  PGAM2 - 7p13 [CytoView hg38]
Mapping of homologs : NCBIPGAM2 [Mapview hg19]  PGAM2 [Mapview hg38]
OMIM261670   612931   
Gene and transcription
Genbank (Entrez)BC001904 BC073741 CT002473 M18172
RefSeq transcript (Entrez)NM_000290
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_013016 NT_007819 NW_004929329
Consensus coding sequences : CCDS (NCBI)PGAM2
Cluster EST : UnigeneHs.632642 [ NCBI ]
CGAP (NCI)Hs.632642
Alternative Splicing : Fast-db (Paris)GSHG0028156
Alternative Splicing GalleryENSG00000164708
Gene ExpressionPGAM2 [ NCBI-GEO ]     PGAM2 [ SEEK ]   PGAM2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15259 (Uniprot)
NextProtP15259  [Medical]
With graphics : InterProP15259
Splice isoforms : SwissVarP15259 (Swissvar)
Catalytic activity : Enzyme3.1.3.13 [ Enzyme-Expasy ]   3.1.3.133.1.3.13 [ IntEnz-EBI ]   3.1.3.13 [ BRENDA ]   3.1.3.13 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)PG_MUTASE (PS00175)   
Domains : Interpro (EBI)His_Pase_superF_clade-1    His_PPase_superfam    PG/BPGM_mutase_AS    Phosphogly_mut1   
Related proteins : CluSTrP15259
Domain families : Pfam (Sanger)His_Phos_1 (PF00300)   
Domain families : Pfam (NCBI)pfam00300   
Domain families : Smart (EMBL)PGAM (SM00855)  
DMDM Disease mutations5224
Blocks (Seattle)P15259
Human Protein AtlasENSG00000164708
Peptide AtlasP15259
HPRD02027
IPIIPI00218570   IPI00844133   
Protein Interaction databases
DIP (DOE-UCLA)P15259
IntAct (EBI)P15259
FunCoupENSG00000164708
BioGRIDPGAM2
IntegromeDBPGAM2
STRING (EMBL)PGAM2
Ontologies - Pathways
QuickGOP15259
Ontology : AmiGObisphosphoglycerate mutase activity  bisphosphoglycerate 2-phosphatase activity  phosphoglycerate mutase activity  nucleus  cytosol  carbohydrate metabolic process  glucose metabolic process  gluconeogenesis  glycolytic process  glycolytic process  striated muscle contraction  spermatogenesis  pathogenesis  dephosphorylation  small molecule metabolic process  2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity  response to mercury ion  cofactor binding  extracellular exosome  
Ontology : EGO-EBIbisphosphoglycerate mutase activity  bisphosphoglycerate 2-phosphatase activity  phosphoglycerate mutase activity  nucleus  cytosol  carbohydrate metabolic process  glucose metabolic process  gluconeogenesis  glycolytic process  glycolytic process  striated muscle contraction  spermatogenesis  pathogenesis  dephosphorylation  small molecule metabolic process  2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity  response to mercury ion  cofactor binding  extracellular exosome  
Pathways : KEGGGlycolysis / Gluconeogenesis    Glycine, serine and threonine metabolism   
Protein Interaction DatabasePGAM2
DoCM (Curated mutations)PGAM2
Wikipedia pathwaysPGAM2
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerPGAM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PGAM2
dbVarPGAM2
ClinVarPGAM2
1000_GenomesPGAM2 
Exome Variant ServerPGAM2
SNP (GeneSNP Utah)PGAM2
SNP : HGBasePGAM2
Genetic variants : HAPMAPPGAM2
Genomic Variants (DGV)PGAM2 [DGVbeta]
Mutations
ICGC Data PortalPGAM2 
TCGA Data PortalPGAM2 
Tumor PortalPGAM2
Somatic Mutations in Cancer : COSMICPGAM2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)7:44102326-44105186
CONAN: Copy Number AnalysisPGAM2 
Mutations and Diseases : HGMDPGAM2
OMIM261670    612931   
MedgenPGAM2
NextProtP15259 [Medical]
GENETestsPGAM2
Disease Genetic AssociationPGAM2
Huge Navigator PGAM2 [HugePedia]  PGAM2 [HugeCancerGEM]
snp3D : Map Gene to Disease5224
DGIdb (Drug Gene Interaction db)PGAM2
General knowledge
Homologs : HomoloGenePGAM2
Homology/Alignments : Family Browser (UCSC)PGAM2
Phylogenetic Trees/Animal Genes : TreeFamPGAM2
Chemical/Protein Interactions : CTD5224
Chemical/Pharm GKB GenePA33226
Clinical trialPGAM2
Cancer Resource (Charite)ENSG00000164708
Other databases
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
CoreMinePGAM2
GoPubMedPGAM2
iHOPPGAM2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 20 19:50:24 CEST 2015

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