Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PGM2L1 Gene

Aliases for PGM2L1 Gene

  • Phosphoglucomutase 2 Like 1 2 3 5
  • BM32A 3 4
  • PMMLP 3 4
  • Glucose-1,6-Bisphosphate Synthase 2
  • Glucose 1,6-Bisphosphate Synthase 3
  • Phosphoglucomutase-2-Like 1 4
  • EC 2.7.1.106 4
  • EC 2.7.1 56

External Ids for PGM2L1 Gene

Previous GeneCards Identifiers for PGM2L1 Gene

  • GC11M073767
  • GC11M073719
  • GC11M074041
  • GC11M070336

Summaries for PGM2L1 Gene

GeneCards Summary for PGM2L1 Gene

PGM2L1 (Phosphoglucomutase 2 Like 1) is a Protein Coding gene. Among its related pathways are Galactose metabolism. Gene Ontology (GO) annotations related to this gene include intramolecular transferase activity, phosphotransferases and glucose-1,6-bisphosphate synthase activity. An important paralog of this gene is PGM2.

UniProtKB/Swiss-Prot for PGM2L1 Gene

  • Glucose 1,6-bisphosphate synthase using 1,3-bisphosphoglycerate as a phosphate donor and a series of 1-phosphate sugars as acceptors, including glucose 1-phosphate, mannose 1-phosphate, ribose 1-phosphate and deoxyribose 1-phosphate. 5 or 6-phosphosugars are bad substrates, with the exception of glucose 6-phosphate. Also synthesizes ribose 1,5-bisphosphate. Has only low phosphopentomutase and phosphoglucomutase activities.

Additional gene information for PGM2L1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGM2L1 Gene

Genomics for PGM2L1 Gene

GeneHancer (GH) Regulatory Elements for PGM2L1 Gene

Promoters and enhancers for PGM2L1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I074397 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 556 +0.0 36 2.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZNF766 PGM2L1 ENSG00000254631 GC11M074397 MIR548AL C2CD3 POLD3 ENSG00000255440 PPME1
GH11I074442 Enhancer 0.9 Ensembl ENCODE 10.7 -45.2 -45181 2.5 CTCF FOXA2 NFIB MZF1 ZIC2 RAD21 FOSL1 ZBTB48 SCRT2 SMC3 KCNE3 ENSG00000206913 ENSG00000254631 PGM2L1 UCP3 ENSG00000254928 ENSG00000255440
GH11I074370 Enhancer 0.7 ENCODE 12.3 +27.1 27067 2.8 ZSCAN5A INSM2 FEZF1 CTBP1 GATA3 GLI2 ATF7 FOSL2 FOS ZNF600 PGM2L1 ENSG00000254631 KCNE3 ENSG00000206913 ENSG00000254928 P4HA3 LOC100421622 ARRB1 HNRNPA1P40
GH11I074566 Enhancer 0.5 ENCODE 10.3 -168.3 -168295 1 TAF1 POLR2A DACH1 HNF4A YY1 KCNE3 ENSG00000254928 ENSG00000206913 ENSG00000254631 PGM2L1 CHRDL2 LOC105369386 POLD3
GH11I074287 Enhancer 1 Ensembl ENCODE 5 +109.9 109937 1.8 HDAC1 SIN3A FEZF1 RAD21 SMARCC2 FOS DEK SMARCC1 CEBPB SP1 P4HA3 P4HA3-AS1 ENSG00000206913 KCNE3 PGM2L1 PIR36741 GC11P074254
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PGM2L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PGM2L1 gene promoter:

Genomic Locations for PGM2L1 Gene

Genomic Locations for PGM2L1 Gene
chr11:74,330,312-74,398,473
(GRCh38/hg38)
Size:
68,162 bases
Orientation:
Minus strand
chr11:74,041,361-74,109,518
(GRCh37/hg19)

Genomic View for PGM2L1 Gene

Genes around PGM2L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGM2L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGM2L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGM2L1 Gene

Proteins for PGM2L1 Gene

  • Protein details for PGM2L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PCE3-PGM2L_HUMAN
    Recommended name:
    Glucose 1,6-bisphosphate synthase
    Protein Accession:
    Q6PCE3
    Secondary Accessions:
    • Q96MQ7
    • Q9UIK3

    Protein attributes for PGM2L1 Gene

    Size:
    622 amino acids
    Molecular mass:
    70442 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PGM2L1 Gene

Selected DME Specific Peptides for PGM2L1 Gene

Q6PCE3:
  • KNSQMIT
  • LATTVSS

Post-translational modifications for PGM2L1 Gene

No Post-translational modifications

Other Protein References for PGM2L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PGM2L1 Gene

Gene Families for PGM2L1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PGM2L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6PCE3

UniProtKB/Swiss-Prot:

PGM2L_HUMAN :
  • Belongs to the phosphohexose mutase family.
Family:
  • Belongs to the phosphohexose mutase family.
genes like me logo Genes that share domains with PGM2L1: view

Function for PGM2L1 Gene

Molecular function for PGM2L1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
3-phospho-D-glyceroyl phosphate + alpha-D-glucose 1-phosphate = 3-phospho-D-glycerate + alpha-D-glucose 1,6-bisphosphate.
UniProtKB/Swiss-Prot Function:
Glucose 1,6-bisphosphate synthase using 1,3-bisphosphoglycerate as a phosphate donor and a series of 1-phosphate sugars as acceptors, including glucose 1-phosphate, mannose 1-phosphate, ribose 1-phosphate and deoxyribose 1-phosphate. 5 or 6-phosphosugars are bad substrates, with the exception of glucose 6-phosphate. Also synthesizes ribose 1,5-bisphosphate. Has only low phosphopentomutase and phosphoglucomutase activities.

Enzyme Numbers (IUBMB) for PGM2L1 Gene

Phenotypes From GWAS Catalog for PGM2L1 Gene

Gene Ontology (GO) - Molecular Function for PGM2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004614 phosphoglucomutase activity EXP 1840235
GO:0016740 transferase activity IEA --
GO:0016853 isomerase activity IEA --
GO:0016868 intramolecular transferase activity, phosphotransferases IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PGM2L1: view

Phenotypes for PGM2L1 Gene

genes like me logo Genes that share phenotypes with PGM2L1: view

miRNA for PGM2L1 Gene

miRTarBase miRNAs that target PGM2L1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PGM2L1 Gene

Localization for PGM2L1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PGM2L1 gene
Compartment Confidence
cytosol 4
nucleus 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PGM2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS,IBA --
genes like me logo Genes that share ontologies with PGM2L1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PGM2L1 Gene

Pathways & Interactions for PGM2L1 Gene

SuperPathways for PGM2L1 Gene

SuperPathway Contained pathways
1 Galactose metabolism
genes like me logo Genes that share pathways with PGM2L1: view

Pathways by source for PGM2L1 Gene

1 KEGG pathway for PGM2L1 Gene

Gene Ontology (GO) - Biological Process for PGM2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0005978 glycogen biosynthetic process TAS --
GO:0005980 glycogen catabolic process TAS --
GO:0006006 glucose metabolic process IEA --
GO:0019388 galactose catabolic process TAS --
genes like me logo Genes that share ontologies with PGM2L1: view

No data available for SIGNOR curated interactions for PGM2L1 Gene

Drugs & Compounds for PGM2L1 Gene

(4) Drugs for PGM2L1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Loperamide Approved Pharma 160
3-Phosphoglyceric acid Experimental Pharma 0
Alpha-D-Glucose 1,6-bisphosphate Experimental Pharma 0
Glucose 1-phosphate Experimental Pharma 0

(1) Additional Compounds for PGM2L1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glyceric acid 1,3-biphosphate
  • 1,3-Biphosphoglycerate
  • 1,3-Biphosphoglyceric acid
  • 1,3-Bis-phosphoglycerate
  • 1,3-Bisphosphoglycerate
  • 1,3-Diphosphateglycerate
1981-49-3
genes like me logo Genes that share compounds with PGM2L1: view

Transcripts for PGM2L1 Gene

mRNA/cDNA for PGM2L1 Gene

Unigene Clusters for PGM2L1 Gene

Phosphoglucomutase 2-like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PGM2L1 Gene

No ASD Table

Relevant External Links for PGM2L1 Gene

GeneLoc Exon Structure for
PGM2L1
ECgene alternative splicing isoforms for
PGM2L1

Expression for PGM2L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PGM2L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PGM2L1 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x6.6), Brain - Frontal Cortex (BA9) (x5.5), Brain - Cortex (x4.0), and Brain - Hippocampus (x4.0).

Protein differential expression in normal tissues from HIPED for PGM2L1 Gene

This gene is overexpressed in Fetal Brain (13.8), Uterus (13.4), Frontal cortex (11.8), and Brain (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PGM2L1 Gene



Protein tissue co-expression partners for PGM2L1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PGM2L1 Gene:

PGM2L1

SOURCE GeneReport for Unigene cluster for PGM2L1 Gene:

Hs.26612

Evidence on tissue expression from TISSUES for PGM2L1 Gene

  • Nervous system(4.9)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with PGM2L1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PGM2L1 Gene

Orthologs for PGM2L1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PGM2L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PGM2L1 33 34
  • 99.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 96 (a)
OneToMany
-- 34
  • 86 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PGM2L1 33 34
  • 93.73 (n)
cow
(Bos Taurus)
Mammalia PGM2L1 33 34
  • 93.19 (n)
oppossum
(Monodelphis domestica)
Mammalia PGM2L1 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pgm2l1 33 16 34
  • 90.07 (n)
rat
(Rattus norvegicus)
Mammalia Pgm2l1 33
  • 90.07 (n)
chicken
(Gallus gallus)
Aves PGM2L1 33 34
  • 79.06 (n)
lizard
(Anolis carolinensis)
Reptilia PGM2L1 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pgm2l1 33
  • 70.93 (n)
zebrafish
(Danio rerio)
Actinopterygii pgm2l1 33 34
  • 67.31 (n)
Dr.11999 33
fruit fly
(Drosophila melanogaster)
Insecta Pmm45A 34
  • 49 (a)
ManyToMany
CG10202 34
  • 43 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y43F4B.5 34
  • 44 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PGM3 34
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6664 34
  • 49 (a)
OneToMany
Species where no ortholog for PGM2L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PGM2L1 Gene

ENSEMBL:
Gene Tree for PGM2L1 (if available)
TreeFam:
Gene Tree for PGM2L1 (if available)

Paralogs for PGM2L1 Gene

Paralogs for PGM2L1 Gene

(1) SIMAP similar genes for PGM2L1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PGM2L1: view

Variants for PGM2L1 Gene

Sequence variations from dbSNP and Humsavar for PGM2L1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000033753 -- 74,386,023(-) A/C intron_variant
rs1000130657 -- 74,375,926(-) G/T intron_variant
rs1000149265 -- 74,385,699(-) C/T intron_variant
rs1000154771 -- 74,333,331(-) G/A 3_prime_UTR_variant
rs1000250153 -- 74,334,584(-) A/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for PGM2L1 Gene

Variant ID Type Subtype PubMed ID
nsv975949 CNV duplication 23825009
nsv825994 CNV gain 20364138
nsv555443 CNV loss 21841781
nsv527942 CNV loss 19592680
nsv524552 CNV loss 19592680
nsv1049915 CNV gain 25217958
esv3626840 CNV gain 21293372
esv3626833 CNV gain 21293372
esv34979 CNV gain 17911159
esv2759837 CNV gain 17122850
dgv209e214 CNV gain 21293372

Variation tolerance for PGM2L1 Gene

Residual Variation Intolerance Score: 18.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.32; 85.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PGM2L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PGM2L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGM2L1 Gene

Disorders for PGM2L1 Gene

Additional Disease Information for PGM2L1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PGM2L1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PGM2L1 Gene

Publications for PGM2L1 Gene

  1. Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family. (PMID: 17804405) Maliekal P … Van Schaftingen E (The Journal of biological chemistry 2007) 2 3 4 22 58
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58

Products for PGM2L1 Gene

Sources for PGM2L1 Gene

Content
Loading form....