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PGAM2 (phosphoglycerate mutase 2)

Identity

Other namesGSD10
PGAM-M
PGAMM
HGNC (Hugo) PGAM2
LocusID (NCBI) 5224
Atlas_Id 46953
Location 7p13  [Link to chromosome band 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
AliasesGSD10; PGAM-M; PGAMM
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 GalleryENSG00000164708
Gene ExpressionPGAM2 [ NCBI-GEO ]   PGAM2 [ EBI - ARRAY_EXPRESS ]   PGAM2 [ SEEK ]   PGAM2 [ MEM ]
Gene Expression Viewer (FireBrowse)PGAM2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5224
GTEX Portal (Tissue expression)PGAM2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15259 (Uniprot)
NextProtP15259  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusP15259
Domaine pattern : Prosite (Expaxy)PG_MUTASE (PS00175)   
Domains : Interpro (EBI)His_Pase_superF_clade-1    His_PPase_superfam    PG/BPGM_mutase_AS    Phosphogly_mut1   
Domain families : Pfam (Sanger)His_Phos_1 (PF00300)   
Domain families : Pfam (NCBI)pfam00300   
Domain families : Smart (EMBL)PGAM (SM00855)  
DMDM Disease mutations5224
Blocks (Seattle)PGAM2
SuperfamilyP15259
Human Protein AtlasENSG00000164708
Peptide AtlasP15259
HPRD02027
IPIIPI00218570   IPI00844133   
Protein Interaction databases
DIP (DOE-UCLA)P15259
IntAct (EBI)P15259
FunCoupENSG00000164708
BioGRIDPGAM2
STRING (EMBL)PGAM2
ZODIACPGAM2
Ontologies - Pathways
QuickGOP15259
Ontology : AmiGObisphosphoglycerate mutase activity  bisphosphoglycerate 2-phosphatase activity  phosphoglycerate mutase activity  phosphoglycerate mutase activity  nucleus  cytosol  cytosol  gluconeogenesis  gluconeogenesis  glycolytic process  striated muscle contraction  Notch signaling pathway  spermatogenesis  dephosphorylation  regulation of pentose-phosphate shunt  2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity  response to mercury ion  cofactor binding  canonical glycolysis  extracellular exosome  
Ontology : EGO-EBIbisphosphoglycerate mutase activity  bisphosphoglycerate 2-phosphatase activity  phosphoglycerate mutase activity  phosphoglycerate mutase activity  nucleus  cytosol  cytosol  gluconeogenesis  gluconeogenesis  glycolytic process  striated muscle contraction  Notch signaling pathway  spermatogenesis  dephosphorylation  regulation of pentose-phosphate shunt  2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity  response to mercury ion  cofactor binding  canonical glycolysis  extracellular exosome  
Pathways : KEGGGlycolysis / Gluconeogenesis    Glycine, serine and threonine metabolism   
NDEx NetworkPGAM2
Atlas of Cancer Signalling NetworkPGAM2
Wikipedia pathwaysPGAM2
Orthology - Evolution
OrthoDB5224
GeneTree (enSembl)ENSG00000164708
Phylogenetic Trees/Animal Genes : TreeFamPGAM2
Homologs : HomoloGenePGAM2
Homology/Alignments : Family Browser (UCSC)PGAM2
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPGAM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PGAM2
dbVarPGAM2
ClinVarPGAM2
1000_GenomesPGAM2 
Exome Variant ServerPGAM2
ExAC (Exome Aggregation Consortium)PGAM2 (select the gene name)
Genetic variants : HAPMAP5224
Genomic Variants (DGV)PGAM2 [DGVbeta]
Mutations
ICGC Data PortalPGAM2 
TCGA Data PortalPGAM2 
Broad Tumor PortalPGAM2
OASIS PortalPGAM2 [ Somatic mutations - Copy number]
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
BioMutasearch PGAM2
DgiDB (Drug Gene Interaction Database)PGAM2
DoCM (Curated mutations)PGAM2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PGAM2 (select a term)
intoGenPGAM2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)7:44102326-44105186  ENSG00000164708
CONAN: Copy Number AnalysisPGAM2 
Mutations and Diseases : HGMDPGAM2
OMIM261670    612931   
MedgenPGAM2
Genetic Testing Registry PGAM2
NextProtP15259 [Medical]
TSGene5224
GENETestsPGAM2
Huge Navigator PGAM2 [HugePedia]
snp3D : Map Gene to Disease5224
BioCentury BCIQPGAM2
ClinGenPGAM2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5224
Chemical/Pharm GKB GenePA33226
Clinical trialPGAM2
Miscellaneous
canSAR (ICR)PGAM2 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePGAM2
EVEXPGAM2
GoPubMedPGAM2
iHOPPGAM2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 19:06:48 CEST 2016

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