Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PGM2L1 (phosphoglucomutase 2 like 1)

Identity

Alias_symbol (synonym)FLJ32029
BM32A
Other aliasPMMLP
HGNC (Hugo) PGM2L1
LocusID (NCBI) 283209
Atlas_Id 71868
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 74330312 and ends at 74398465 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PGM2L1 (11q13.4) / PGM2L1 (11q13.4)PGM2L1 (11q13.4) / TTTY14 (Yq11.222)PGM2L1 (11q13.4) / UVRAG (11q13.5)
PPME1 (11q13.4) / PGM2L1 (11q13.4)

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)PGM2L1   20898
Cards
Entrez_Gene (NCBI)PGM2L1  283209  phosphoglucomutase 2 like 1
AliasesBM32A; PMMLP
GeneCards (Weizmann)PGM2L1
Ensembl hg19 (Hinxton)ENSG00000165434 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165434 [Gene_View]  chr11:74330312-74398465 [Contig_View]  PGM2L1 [Vega]
ICGC DataPortalENSG00000165434
TCGA cBioPortalPGM2L1
AceView (NCBI)PGM2L1
Genatlas (Paris)PGM2L1
WikiGenes283209
SOURCE (Princeton)PGM2L1
Genetics Home Reference (NIH)PGM2L1
Genomic and cartography
GoldenPath hg38 (UCSC)PGM2L1  -     chr11:74330312-74398465 -  11q13.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PGM2L1  -     11q13.4   [Description]    (hg19-Feb_2009)
EnsemblPGM2L1 - 11q13.4 [CytoView hg19]  PGM2L1 - 11q13.4 [CytoView hg38]
Mapping of homologs : NCBIPGM2L1 [Mapview hg19]  PGM2L1 [Mapview hg38]
OMIM611610   
Gene and transcription
Genbank (Entrez)AA775810 AB019210 AK056591 AK090777 AL119265
RefSeq transcript (Entrez)NM_173582
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PGM2L1
Cluster EST : UnigeneHs.26612 [ NCBI ]
CGAP (NCI)Hs.26612
Alternative Splicing GalleryENSG00000165434
Gene ExpressionPGM2L1 [ NCBI-GEO ]   PGM2L1 [ EBI - ARRAY_EXPRESS ]   PGM2L1 [ SEEK ]   PGM2L1 [ MEM ]
Gene Expression Viewer (FireBrowse)PGM2L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)283209
GTEX Portal (Tissue expression)PGM2L1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6PCE3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6PCE3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6PCE3
Splice isoforms : SwissVarQ6PCE3
Catalytic activity : Enzyme2.7.1.106 [ Enzyme-Expasy ]   2.7.1.1062.7.1.106 [ IntEnz-EBI ]   2.7.1.106 [ BRENDA ]   2.7.1.106 [ KEGG ]   
PhosPhoSitePlusQ6PCE3
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   
Domain families : Pfam (Sanger)PGM_PMM_I (PF02878)    PGM_PMM_II (PF02879)    PGM_PMM_III (PF02880)    PGM_PMM_IV (PF00408)   
Domain families : Pfam (NCBI)pfam02878    pfam02879    pfam02880    pfam00408   
Conserved Domain (NCBI)PGM2L1
DMDM Disease mutations283209
Blocks (Seattle)PGM2L1
SuperfamilyQ6PCE3
Human Protein AtlasENSG00000165434
Peptide AtlasQ6PCE3
HPRD11427
IPIIPI00173346   IPI01014479   
Protein Interaction databases
DIP (DOE-UCLA)Q6PCE3
IntAct (EBI)Q6PCE3
FunCoupENSG00000165434
BioGRIDPGM2L1
STRING (EMBL)PGM2L1
ZODIACPGM2L1
Ontologies - Pathways
QuickGOQ6PCE3
Ontology : AmiGOcytosol  glucose metabolic process  phosphorylation  intramolecular transferase activity, phosphotransferases  metal ion binding  glucose-1,6-bisphosphate synthase activity  
Ontology : EGO-EBIcytosol  glucose metabolic process  phosphorylation  intramolecular transferase activity, phosphotransferases  metal ion binding  glucose-1,6-bisphosphate synthase activity  
Pathways : KEGGStarch and sucrose metabolism   
NDEx NetworkPGM2L1
Atlas of Cancer Signalling NetworkPGM2L1
Wikipedia pathwaysPGM2L1
Orthology - Evolution
OrthoDB283209
GeneTree (enSembl)ENSG00000165434
Phylogenetic Trees/Animal Genes : TreeFamPGM2L1
HOVERGENQ6PCE3
HOGENOMQ6PCE3
Homologs : HomoloGenePGM2L1
Homology/Alignments : Family Browser (UCSC)PGM2L1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPGM2L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PGM2L1
dbVarPGM2L1
ClinVarPGM2L1
1000_GenomesPGM2L1 
Exome Variant ServerPGM2L1
ExAC (Exome Aggregation Consortium)PGM2L1 (select the gene name)
Genetic variants : HAPMAP283209
Genomic Variants (DGV)PGM2L1 [DGVbeta]
DECIPHERPGM2L1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPGM2L1 
Mutations
ICGC Data PortalPGM2L1 
TCGA Data PortalPGM2L1 
Broad Tumor PortalPGM2L1
OASIS PortalPGM2L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPGM2L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPGM2L1
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 PGM2L1
DgiDB (Drug Gene Interaction Database)PGM2L1
DoCM (Curated mutations)PGM2L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PGM2L1 (select a term)
intoGenPGM2L1
Cancer3DPGM2L1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611610   
Orphanet
MedgenPGM2L1
Genetic Testing Registry PGM2L1
NextProtQ6PCE3 [Medical]
TSGene283209
GENETestsPGM2L1
Target ValidationPGM2L1
Huge Navigator PGM2L1 [HugePedia]
snp3D : Map Gene to Disease283209
BioCentury BCIQPGM2L1
ClinGenPGM2L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD283209
Chemical/Pharm GKB GenePA134938366
Clinical trialPGM2L1
Miscellaneous
canSAR (ICR)PGM2L1 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePGM2L1
EVEXPGM2L1
GoPubMedPGM2L1
iHOPPGM2L1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:36:11 CEST 2017

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