Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PGM5 (phosphoglucomutase 5)

Identity

Alias_symbol (synonym)PGMRP
Other alias
HGNC (Hugo) PGM5
LocusID (NCBI) 5239
Atlas_Id 71869
Location 9q21.11  [Link to chromosome band 9q21]
Location_base_pair Starts at 70971815 and ends at 71145977 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MTR (1q43) / PGM5 (9q21.11)PGM5 (9q21.11) / CTSL (9q21.33)PIP5K1B (9q21.11) / PGM5 (9q21.11)
SMC2 (9q31.1) / PGM5 (9q21.11)PIP5K1B PGM5SMC2 PGM5

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)PGM5   8908
Cards
Entrez_Gene (NCBI)PGM5  5239  phosphoglucomutase 5
AliasesPGMRP
GeneCards (Weizmann)PGM5
Ensembl hg19 (Hinxton)ENSG00000154330 [Gene_View]  chr9:70971815-71145977 [Contig_View]  PGM5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000154330 [Gene_View]  chr9:70971815-71145977 [Contig_View]  PGM5 [Vega]
ICGC DataPortalENSG00000154330
TCGA cBioPortalPGM5
AceView (NCBI)PGM5
Genatlas (Paris)PGM5
WikiGenes5239
SOURCE (Princeton)PGM5
Genetics Home Reference (NIH)PGM5
Genomic and cartography
GoldenPath hg19 (UCSC)PGM5  -     chr9:70971815-71145977 +  9q21.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PGM5  -     9q21.11   [Description]    (hg38-Dec_2013)
EnsemblPGM5 - 9q21.11 [CytoView hg19]  PGM5 - 9q21.11 [CytoView hg38]
Mapping of homologs : NCBIPGM5 [Mapview hg19]  PGM5 [Mapview hg38]
OMIM600981   
Gene and transcription
Genbank (Entrez)AA709405 AI078570 AI374906 AK297108 AL137698
RefSeq transcript (Entrez)NM_021965
RefSeq genomic (Entrez)NC_000009 NC_018920 NT_008470 NW_004929366
Consensus coding sequences : CCDS (NCBI)PGM5
Cluster EST : UnigeneHs.307835 [ NCBI ]
CGAP (NCI)Hs.307835
Alternative Splicing GalleryENSG00000154330
Gene ExpressionPGM5 [ NCBI-GEO ]   PGM5 [ EBI - ARRAY_EXPRESS ]   PGM5 [ SEEK ]   PGM5 [ MEM ]
Gene Expression Viewer (FireBrowse)PGM5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5239
GTEX Portal (Tissue expression)PGM5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15124   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15124  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15124
Splice isoforms : SwissVarQ15124
PhosPhoSitePlusQ15124
Domaine pattern : Prosite (Expaxy)PGM_PMM (PS00710)   
Domains : Interpro (EBI)A-D-PHexomutase_a/b/a-I    A-D-PHexomutase_a/b/a-I/II/III    A-D-PHexomutase_a/b/a-II    A-D-PHexomutase_a/b/a-III    A-D-PHexomutase_C    A-D-PHexomutase_CS    Alpha-D-phosphohexomutase_SF   
Domain families : Pfam (Sanger)PGM_PMM_I (PF02878)    PGM_PMM_II (PF02879)    PGM_PMM_III (PF02880)   
Domain families : Pfam (NCBI)pfam02878    pfam02879    pfam02880   
Conserved Domain (NCBI)PGM5
DMDM Disease mutations5239
Blocks (Seattle)PGM5
SuperfamilyQ15124
Human Protein AtlasENSG00000154330
Peptide AtlasQ15124
HPRD02990
IPIIPI00014852   IPI00852717   IPI00553217   
Protein Interaction databases
DIP (DOE-UCLA)Q15124
IntAct (EBI)Q15124
FunCoupENSG00000154330
BioGRIDPGM5
STRING (EMBL)PGM5
ZODIACPGM5
Ontologies - Pathways
QuickGOQ15124
Ontology : AmiGOmagnesium ion binding  stress fiber  phosphoglucomutase activity  structural molecule activity  cytosol  cell-cell adherens junction  spot adherens junction  focal adhesion  glycogen biosynthetic process  glucose metabolic process  cell adhesion  cytoplasmic side of plasma membrane  intercalated disc  dystrophin-associated glycoprotein complex  dystrophin-associated glycoprotein complex  galactose catabolic process  Z disc  sarcolemma  costamere  
Ontology : EGO-EBImagnesium ion binding  stress fiber  phosphoglucomutase activity  structural molecule activity  cytosol  cell-cell adherens junction  spot adherens junction  focal adhesion  glycogen biosynthetic process  glucose metabolic process  cell adhesion  cytoplasmic side of plasma membrane  intercalated disc  dystrophin-associated glycoprotein complex  dystrophin-associated glycoprotein complex  galactose catabolic process  Z disc  sarcolemma  costamere  
NDEx NetworkPGM5
Atlas of Cancer Signalling NetworkPGM5
Wikipedia pathwaysPGM5
Orthology - Evolution
OrthoDB5239
GeneTree (enSembl)ENSG00000154330
Phylogenetic Trees/Animal Genes : TreeFamPGM5
HOVERGENQ15124
HOGENOMQ15124
Homologs : HomoloGenePGM5
Homology/Alignments : Family Browser (UCSC)PGM5
Gene fusions - Rearrangements
Fusion: TCGAPIP5K1B PGM5
Fusion: TCGASMC2 PGM5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPGM5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PGM5
dbVarPGM5
ClinVarPGM5
1000_GenomesPGM5 
Exome Variant ServerPGM5
ExAC (Exome Aggregation Consortium)PGM5 (select the gene name)
Genetic variants : HAPMAP5239
Genomic Variants (DGV)PGM5 [DGVbeta]
DECIPHER (Syndromes)9:70971815-71145977  ENSG00000154330
CONAN: Copy Number AnalysisPGM5 
Mutations
ICGC Data PortalPGM5 
TCGA Data PortalPGM5 
Broad Tumor PortalPGM5
OASIS PortalPGM5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPGM5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPGM5
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 PGM5
DgiDB (Drug Gene Interaction Database)PGM5
DoCM (Curated mutations)PGM5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PGM5 (select a term)
intoGenPGM5
Cancer3DPGM5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600981   
Orphanet
MedgenPGM5
Genetic Testing Registry PGM5
NextProtQ15124 [Medical]
TSGene5239
GENETestsPGM5
Huge Navigator PGM5 [HugePedia]
snp3D : Map Gene to Disease5239
BioCentury BCIQPGM5
ClinGenPGM5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5239
Chemical/Pharm GKB GenePA33245
Clinical trialPGM5
Miscellaneous
canSAR (ICR)PGM5 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePGM5
EVEXPGM5
GoPubMedPGM5
iHOPPGM5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:38:28 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.