Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PGAM2 (phosphoglycerate mutase 2 (muscle))

Identity

Other namesGSD10
PGAM-M
PGAMM
HGNC (Hugo) PGAM2
LocusID (NCBI) 5224
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 (Hinxton)ENSG00000164708 [Gene_View]  chr7:44102326-44105186 [Contig_View]  PGAM2 [Vega]
ICGC DataPortalENSG00000164708
cBioPortalPGAM2
AceView (NCBI)PGAM2
Genatlas (Paris)PGAM2
WikiGenes5224
SOURCE (Princeton)NM_000290
Genomic and cartography
GoldenPath (UCSC)PGAM2  -  7p13   chr7:44102326-44105186 -  7p13   [Description]    (hg19-Feb_2009)
EnsemblPGAM2 - 7p13 [CytoView]
Mapping of homologs : NCBIPGAM2 [Mapview]
OMIM261670   612931   
Gene and transcription
Genbank (Entrez)BC001904 BC073741 CT002473 M18172
RefSeq transcript (Entrez)NM_000290
RefSeq genomic (Entrez)AC_000139 NC_000007 NC_018918 NG_013016 NT_007819 NW_001839004 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 ]
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 [organisation]   His_PPase_superfam [organisation]   PG/BPGM_mutase_AS [organisation]   Phosphogly_mut1 [organisation]  
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 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP15259
HPRD02027
IPIIPI00218570   IPI00844133   
Protein Interaction databases
DIP (DOE-UCLA)P15259
IntAct (EBI)P15259
FunCoupENSG00000164708
BioGRIDPGAM2
InParanoidP15259
Interologous Interaction database P15259
IntegromeDBPGAM2
STRING (EMBL)PGAM2
Ontologies - Pathways
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  dephosphorylation  small molecule metabolic process  2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity  response to mercury ion  cofactor binding  
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  dephosphorylation  small molecule metabolic process  2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity  response to mercury ion  cofactor binding  
Pathways : KEGGGlycolysis / Gluconeogenesis    Glycine, serine and threonine metabolism   
Protein Interaction DatabasePGAM2
Wikipedia pathwaysPGAM2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PGAM2
snp3D : Map Gene to Disease5224
SNP (GeneSNP Utah)PGAM2
SNP : HGBasePGAM2
Genetic variants : HAPMAPPGAM2
Exome VariantPGAM2
1000_GenomesPGAM2 
ICGC programENSG00000164708 
Somatic Mutations in Cancer : COSMICPGAM2 
CONAN: Copy Number AnalysisPGAM2 
Mutations and Diseases : HGMDPGAM2
Mutations and Diseases : intOGenPGAM2
Genomic VariantsPGAM2  PGAM2 [DGVbeta]
dbVarPGAM2
ClinVarPGAM2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM261670    612931   
MedgenPGAM2
GENETestsPGAM2
Disease Genetic AssociationPGAM2
Huge Navigator PGAM2 [HugePedia]  PGAM2 [HugeCancerGEM]
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
PubMed19 Pubmed reference(s) in Entrez
CoreMinePGAM2
iHOPPGAM2
OncoSearchPGAM2
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:59:27 CEST 2014

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