Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PGM2L1 (phosphoglucomutase 2 like 1)

Identity

Alias (NCBI)BM32A
PMMLP
HGNC (Hugo) PGM2L1
HGNC Alias symbFLJ32029
BM32A
HGNC Alias nameglucose-1,6-bisphosphate synthase
LocusID (NCBI) 283209
Atlas_Id 71868
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 74330316 and ends at 74398433 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    phosphoglucomutase 2 like 1
AliasesBM32A; PMMLP
GeneCards (Weizmann)PGM2L1
Ensembl hg19 (Hinxton)ENSG00000165434 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165434 [Gene_View]  ENSG00000165434 [Sequence]  chr11:74330316-74398433 [Contig_View]  PGM2L1 [Vega]
ICGC DataPortalENSG00000165434
TCGA cBioPortalPGM2L1
AceView (NCBI)PGM2L1
Genatlas (Paris)PGM2L1
SOURCE (Princeton)PGM2L1
Genetics Home Reference (NIH)PGM2L1
Genomic and cartography
GoldenPath hg38 (UCSC)PGM2L1  -     chr11:74330316-74398433 -  11q13.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PGM2L1  -     11q13.4   [Description]    (hg19-Feb_2009)
GoldenPathPGM2L1 - 11q13.4 [CytoView hg19]  PGM2L1 - 11q13.4 [CytoView hg38]
ImmunoBaseENSG00000165434
Genome Data Viewer NCBIPGM2L1 [Mapview hg19]  
OMIM611610   
Gene and transcription
Genbank (Entrez)AA775810 AB019210 AK056591 AK090777 AL119265
RefSeq transcript (Entrez)NM_173582
Consensus coding sequences : CCDS (NCBI)PGM2L1
Gene ExpressionPGM2L1 [ NCBI-GEO ]   PGM2L1 [ EBI - ARRAY_EXPRESS ]   PGM2L1 [ SEEK ]   PGM2L1 [ MEM ]
Gene Expression Viewer (FireBrowse)PGM2L1 [ Firebrowse - Broad ]
GenevisibleExpression of PGM2L1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)283209
GTEX Portal (Tissue expression)PGM2L1
Human Protein AtlasENSG00000165434-PGM2L1 [pathology]   [cell]   [tissue]
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
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 ]   [ MEROPS ]
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    A-D-PHexomutase_C_sf   
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
SuperfamilyQ6PCE3
AlphaFold pdb e-kbQ6PCE3   
Human Protein Atlas [tissue]ENSG00000165434-PGM2L1 [tissue]
HPRD11427
Protein Interaction databases
DIP (DOE-UCLA)Q6PCE3
IntAct (EBI)Q6PCE3
BioGRIDPGM2L1
STRING (EMBL)PGM2L1
ZODIACPGM2L1
Ontologies - Pathways
QuickGOQ6PCE3
Ontology : AmiGOcytosol  glycogen biosynthetic process  glycogen catabolic process  glucose metabolic process  phosphorylation  intramolecular transferase activity, phosphotransferases  galactose catabolic process  metal ion binding  glucose-1,6-bisphosphate synthase activity  glucose-1,6-bisphosphate synthase activity  glucose 6-phosphate metabolic process  
Ontology : EGO-EBIcytosol  glycogen biosynthetic process  glycogen catabolic process  glucose metabolic process  phosphorylation  intramolecular transferase activity, phosphotransferases  galactose catabolic process  metal ion binding  glucose-1,6-bisphosphate synthase activity  glucose-1,6-bisphosphate synthase activity  glucose 6-phosphate metabolic process  
NDEx NetworkPGM2L1
Atlas of Cancer Signalling NetworkPGM2L1
Wikipedia pathwaysPGM2L1
Orthology - Evolution
OrthoDB283209
GeneTree (enSembl)ENSG00000165434
Phylogenetic Trees/Animal Genes : TreeFamPGM2L1
Homologs : HomoloGenePGM2L1
Homology/Alignments : Family Browser (UCSC)PGM2L1
Gene fusions - Rearrangements
Fusion : QuiverPGM2L1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPGM2L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PGM2L1
dbVarPGM2L1
ClinVarPGM2L1
MonarchPGM2L1
1000_GenomesPGM2L1 
Exome Variant ServerPGM2L1
GNOMAD BrowserENSG00000165434
Varsome BrowserPGM2L1
ACMGPGM2L1 variants
VarityQ6PCE3
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]  
Somatic Mutations in Cancer : COSMIC3DPGM2L1
Mutations and Diseases : HGMDPGM2L1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPGM2L1
DgiDB (Drug Gene Interaction Database)PGM2L1
DoCM (Curated mutations)PGM2L1
CIViC (Clinical Interpretations of Variants in Cancer)PGM2L1
Cancer3DPGM2L1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611610   
Orphanet
DisGeNETPGM2L1
MedgenPGM2L1
Genetic Testing Registry PGM2L1
NextProtQ6PCE3 [Medical]
GENETestsPGM2L1
Target ValidationPGM2L1
Huge Navigator PGM2L1 [HugePedia]
ClinGenPGM2L1
Clinical trials, drugs, therapy
MyCancerGenomePGM2L1
Protein Interactions : CTDPGM2L1
Pharm GKB GenePA134938366
PharosQ6PCE3
Clinical trialPGM2L1
Miscellaneous
canSAR (ICR)PGM2L1
HarmonizomePGM2L1
ARCHS4PGM2L1
DataMed IndexPGM2L1
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPGM2L1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 13:45:52 CET 2022

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