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phosphoglucomutase 2 like 1

Summary
Gene Symbol
  • PGM2L1
Aliases
  • BM32A
  • FLJ32029
  • glucose-1,6-bisphosphate synthase
Organism
Homo sapiens (human)
NCBI Gene
283209
HGNC
20898
KEGG Gene ID
hsa:283209
PubChem
283209
Alliance of Genome Resources
JoGo
PGM2L1
TogoVar
PGM2L1
Annotation
Keyword
  • Cytoplasm
  • Disease variant
  • Glucose metabolism
  • Intellectual disability
  • Isomerase
  • Magnesium
  • Metal-binding
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Transferase
Proteins
Displaying 1 entry
UniProt Protein Name
Q6PCE3
  • PMMLP
  • Phosphoglucomutase-2-like 1
Annotation information from UniProt.
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
cytosol
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
OrthoDB (Group)
Group level
Eukaryota
Group Name
phosphoglucomutase
Functional Category
  • G: Carbohydrate transport and metabolism
  • J: Translation, ribosomal structure and biogenesis
  • M: Cell wall/membrane/envelope biogenesis
  • T: Signal transduction mechanisms
Displaying all 3 entries
Gene Ontology
magnesium ion binding
phosphopentomutase activity
purine ribonucleoside salvage
Displaying all 6 entries
InterPro
Alpha-D-phosphohexomutase, C-terminal domain superfamily
Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III
Alpha-D-phosphohexomutase, alpha/beta/alpha domain I
Alpha-D-phosphohexomutase, alpha/beta/alpha domain II
Alpha-D-phosphohexomutase, alpha/beta/alpha domain III
Alpha-D-phosphohexomutase, conserved site
KEGG BRITE Database
Orthology
K11809
Name
glucose-1,6-bisphosphate synthase [EC:2.7.1.106]
References
Rhea

RHEA:70911

(2R)-3-phospho-glyceroyl phosphate + α-D-glucose 6-phosphate
H+ + (2R)-3-phosphoglycerate + α-D-glucose 1,6-bisphosphate
Enzyme
PMID

RHEA:16769

(2R)-3-phospho-glyceroyl phosphate + α-D-glucose 1-phosphate
H+ + (2R)-3-phosphoglycerate + α-D-glucose 1,6-bisphosphate
Enzyme
PMID
Disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 41 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000218 High palate
HP:0000219 Thin upper lip vermilion
HP:0000286 Epicanthus
HP:0000307 Pointed chin
HP:0000319 Smooth philtrum
HP:0000343 Long philtrum
HP:0000396 Overfolded helix
HP:0000411 Protruding ear
HP:0000414 Bulbous nose
Displaying 1 entry
Disease ID Disease Name
OMIM:620191
  • neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
PubChem Disease
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026