Aliases for PGM2 Gene

Aliases for PGM2 Gene

  • Phosphoglucomutase 2 2 3 5
  • Glucose Phosphomutase 2 3 4
  • Phosphodeoxyribomutase 3 4
  • Phosphoglucomutase-2 3 4
  • Phosphopentomutase 2 4
  • EC 4 51
  • PGM 2 3 4
  • EC 4
  • FLJ10983 2
  • EC 5.4.2 51
  • MSTP006 3
  • PGM2 5

External Ids for PGM2 Gene

Previous GeneCards Identifiers for PGM2 Gene

  • GC04U990041
  • GC04P037725
  • GC04P037650
  • GC04P037504
  • GC04P037828
  • GC04P037152
  • GC04P037829
  • GC04P037837
  • GC04P037843

Summaries for PGM2 Gene

GeneCards Summary for PGM2 Gene

PGM2 (Phosphoglucomutase 2) is a Protein Coding gene. Diseases associated with PGM2 include Melnick-Needles Syndrome and Otopalatodigital Syndrome Spectrum Disorder. Among its related pathways are Innate Immune System and Galactose metabolism. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and phosphoglucomutase activity. An important paralog of this gene is PGM2L1.

UniProtKB/Swiss-Prot Summary for PGM2 Gene

  • Catalyzes the conversion of the nucleoside breakdown products ribose-1-phosphate and deoxyribose-1-phosphate to the corresponding 5-phosphopentoses. May also catalyze the interconversion of glucose-1-phosphate and glucose-6-phosphate. Has low glucose 1,6-bisphosphate synthase activity.

Gene Wiki entry for PGM2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PGM2 Gene

Genomics for PGM2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PGM2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J037825 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 328.3 +0.3 341 3.6 ZSCAN16 TBP MXD4 FEZF1 MNT IKZF1 SMAD5 ETS1 POLR2A BHLHE40 PGM2 piR-43106-157 TBC1D1
GH04J037802 Enhancer 0.9 Ensembl ENCODE 83.1 -24.4 -24370 0.2 DEK IKZF1 CTCF THAP11 REST MAFF MIER3 ETV4 SMC3 RAD21 PGM2 TBC1D1 ENSG00000248936 RELL1 HSALNG0033846 MK280144-515 MK280221-019
GH04J037810 Enhancer 0.7 Ensembl ENCODE 72.7 -15.8 -15840 1.4 TAL1 HNF4A TCF12 ARID1B ZSCAN4 CBFA2T2 RNF2 KDM1A NCOR1 CBFA2T3 PGM2 HSALNG0033846 piR-50308-478 RELL1 MK280221-019
GH04J037850 Enhancer 0.6 Ensembl 84.4 +25.4 25440 3.4 BATF POLR2A IKZF1 JUNB ATF7 SPI1 IKZF2 MTA2 DPF2 RUNX3 piR-43106-157 PGM2 TBC1D1 ENSG00000279386
GH04J037815 Enhancer 0.6 Ensembl ENCODE 77.8 -10.3 -10259 2 ZNF513 ZFP91 EGR2 EGR1 PGM2 piR-50308-478 HSALNG0033846 RELL1 MK280221-019
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PGM2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PGM2

Top Transcription factor binding sites by QIAGEN in the PGM2 gene promoter:
  • ARP-1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • ITF-2
  • Tal-1beta
  • TBP

Genomic Locations for PGM2 Gene

Latest Assembly
36,278 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
36,251 bases
Plus strand

(GRCh37/hg19 by Ensembl)
36,304 bases
Plus strand

Genomic View for PGM2 Gene

Genes around PGM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGM2 Gene

Proteins for PGM2 Gene

  • Protein details for PGM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B4E0G8
    • Q53FP5
    • Q5QTR0
    • Q9H0P9
    • Q9NV22

    Protein attributes for PGM2 Gene

    612 amino acids
    Molecular mass:
    68283 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PGM2 Gene


neXtProt entry for PGM2 Gene

Selected DME Specific Peptides for PGM2 Gene


Post-translational modifications for PGM2 Gene

  • Ubiquitination at Lys27, Lys91, and Lys292
  • Modification sites at PhosphoSitePlus

Other Protein References for PGM2 Gene

Antibodies for research

  • Abcam antibodies for PGM2
  • Boster Bio Antibodies for PGM2
  • Santa Cruz Biotechnology (SCBT) Antibodies for PGM2

Domains & Families for PGM2 Gene

Gene Families for PGM2 Gene

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

Suggested Antigen Peptide Sequences for PGM2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60384, highly similar to Phosphoglucomutase-2 (EC (B4E0G8_HUMAN)
  • Phosphopentomutase (PGM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the phosphohexose mutase family.
  • Belongs to the phosphohexose mutase family.
genes like me logo Genes that share domains with PGM2: view

Function for PGM2 Gene

Molecular function for PGM2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of the nucleoside breakdown products ribose-1-phosphate and deoxyribose-1-phosphate to the corresponding 5-phosphopentoses. May also catalyze the interconversion of glucose-1-phosphate and glucose-6-phosphate. Has low glucose 1,6-bisphosphate synthase activity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate; Xref=Rhea:RHEA:23536, ChEBI:CHEBI:58225, ChEBI:CHEBI:58601; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=alpha-D-ribose 1-phosphate = D-ribose 5-phosphate; Xref=Rhea:RHEA:18793, ChEBI:CHEBI:57720, ChEBI:CHEBI:78346; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-deoxy-alpha-D-ribose 1-phosphate = 2-deoxy-D-ribose 5-phosphate; Xref=Rhea:RHEA:27658, ChEBI:CHEBI:57259, ChEBI:CHEBI:62877; EC=;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=45.7 uM for alpha-D-ribose 1-phosphate {ECO:0000269|PubMed:17804405}; KM=4.1 uM for 2-deoxy-alpha-D-ribose 1-phosphate {ECO:0000269|PubMed:17804405}; KM=114 uM for alpha-D-glucose 1-phosphate {ECO:0000269|PubMed:17804405}; Vmax=104.3 umol/min/mg enzyme with alpha-D-ribose 1-phosphate as substrate {ECO:0000269|PubMed:17804405}; Vmax=20.8 umol/min/mg enzyme with 2-deoxy-alpha-D-ribose 1-phosphate as substrate {ECO:0000269|PubMed:17804405}; Vmax=22.8 umol/min/mg enzyme with alpha-D-glucose 1-phosphate as substrate {ECO:0000269|PubMed:17804405};
GENATLAS Biochemistry:
phosphoglucomutase 2

Enzyme Numbers (IUBMB) for PGM2 Gene

Phenotypes From GWAS Catalog for PGM2 Gene

Gene Ontology (GO) - Molecular Function for PGM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004614 phosphoglucomutase activity IEA --
GO:0005515 protein binding IPI 21044950
GO:0008973 phosphopentomutase activity IEA,IDA 17804405
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with PGM2: view
genes like me logo Genes that share phenotypes with PGM2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PGM2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PGM2 Gene

Localization for PGM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PGM2 Gene


Subcellular locations from

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 PGM2 gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 3
mitochondrion 2
nucleus 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PGM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0034774 secretory granule lumen TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with PGM2: view

Pathways & Interactions for PGM2 Gene

genes like me logo Genes that share pathways with PGM2: view

UniProtKB/Swiss-Prot Q96G03-PGM2_HUMAN

  • Pathway: Carbohydrate degradation; 2-deoxy-D-ribose 1-phosphate degradation; D-glyceraldehyde 3-phosphate and acetaldehyde from 2-deoxy-alpha-D-ribose 1-phosphate: step 1/2.

Gene Ontology (GO) - Biological Process for PGM2 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:0006098 pentose-phosphate shunt TAS --
genes like me logo Genes that share ontologies with PGM2: view

No data available for SIGNOR curated interactions for PGM2 Gene

Drugs & Compounds for PGM2 Gene

(7) Drugs for PGM2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
alpha-D-Glucose 1,6-bisphosphate Experimental Pharma 0
D-Mannose 1-phosphate Experimental Pharma 0
Glucose 1-phosphate Experimental Pharma 0
Glucose 6-phosphate Experimental Pharma 0

(6) Additional Compounds for PGM2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Deoxyribose 1-phosphate
  • 2-Deoxy-1-O-phosphono-D-erythro-pentofuranose
  • 2-Deoxy-1-O-phosphono-D-ribofuranose
  • 2-Deoxy-D-ribose 1-phosphate
  • 2-Deoxy-D-ribose 1-phosphoric acid
  • Deoxyribose 1-phosphoric acid
Deoxyribose 5-monophosphate
  • Deoxyribose 5-monophosphoric acid
  • {[(2R,3S,5S)-3,5-dihydroxyoxolan-2-yl]methoxy}phosphonate
Deoxyribose 5-phosphate
  • Deoxyribose 5-phosphoric acid
  • 2-Deoxy-alpha-D-ribose 5-phosphate
  • 2-Deoxy-alpha-delta-ribose 5-phosphate
  • 2-Deoxy-D-ribose 5-phosphate
  • 2-Deoxy-D-ribose-5-phosphate
D-Ribose 5-phosphate
  • 5-O-Phosphono-alpha-D-ribofuranose
  • 5-O-Phosphono-a-D-ribofuranose
  • 5-O-Phosphono-α-D-ribofuranose
  • a-D-Ribose 5-phosphate
  • a-D-Ribose 5-phosphoric acid
ribose 1-phosphate
  • 1-O-Phosphono-alpha-D-ribofuranose
  • 1-Phospho-alpha-D-ribofuranose
  • D-Ribose 1-phosphate
  • 1-O-Phosphono-a-D-ribofuranose
  • 1-O-Phosphono-α-D-ribofuranose
genes like me logo Genes that share compounds with PGM2: view

Transcripts for PGM2 Gene

mRNA/cDNA for PGM2 Gene

11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PGM2

Alternative Splicing Database (ASD) splice patterns (SP) for PGM2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14
SP1: -
SP2: -

Relevant External Links for PGM2 Gene

GeneLoc Exon Structure for

Expression for PGM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PGM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PGM2 Gene

This gene is overexpressed in Esophagus - Mucosa (x4.8).

Protein differential expression in normal tissues from HIPED for PGM2 Gene

This gene is overexpressed in Retina (10.8), Lymph node (9.1), and Uterus (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PGM2 Gene

Protein tissue co-expression partners for PGM2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PGM2

SOURCE GeneReport for Unigene cluster for PGM2 Gene:


Evidence on tissue expression from TISSUES for PGM2 Gene

  • Blood(4.5)
  • Liver(4.4)
  • Kidney(4.3)
  • Muscle(4.3)
  • Stomach(4.2)
  • Nervous system(3.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with PGM2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PGM2 Gene

Orthologs for PGM2 Gene

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

Orthologs for PGM2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PGM2 30 31
  • 96.51 (n)
(Canis familiaris)
Mammalia PGM2 30 31
  • 90.52 (n)
(Bos Taurus)
Mammalia PGM2 30 31
  • 88.89 (n)
(Mus musculus)
Mammalia Pgm1 30 31
  • 85.25 (n)
Pgm2 17
(Monodelphis domestica)
Mammalia -- 31
  • 83 (a)
-- 31
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia PGM2 31
  • 81 (a)
(Gallus gallus)
Aves PGM2 30 31
  • 76.74 (n)
(Anolis carolinensis)
Reptilia PGM2 31
  • 83 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pgm2 30
  • 72.71 (n)
Str.2180 30
(Danio rerio)
Actinopterygii pgm2 30 31
  • 67.82 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008305 30
  • 57.97 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Pmm45A 30 31
  • 53.46 (n)
CG10202 31
  • 41 (a)
(Caenorhabditis elegans)
Secernentea Y43F4B.5 30 31
  • 53.96 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABL126W 30
  • 49.83 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PGM3 30 31
  • 49.8 (n)
PRM15 33
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01573g 30
  • 49.41 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6664 31
  • 56 (a)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC1840.05c 30
  • 51.88 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3456 30
Species where no ortholog for PGM2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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)
  • Rat (Rattus norvegicus)
  • 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 PGM2 Gene

Gene Tree for PGM2 (if available)
Gene Tree for PGM2 (if available)
Evolutionary constrained regions (ECRs) for PGM2: view image

Paralogs for PGM2 Gene

Paralogs for PGM2 Gene

(2) SIMAP similar genes for PGM2 Gene using alignment to 6 proteins:

  • B4E0G8_HUMAN
  • E9PD70_HUMAN
  • F5H6V2_HUMAN
  • H0Y921_HUMAN
genes like me logo Genes that share paralogs with PGM2: view

Variants for PGM2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PGM2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs114326618 Benign: not provided 37,829,982(+) G/A
NM_018290.4(PGM2):c.100G>A (p.Ala34Thr)
rs34893278 Benign: not provided 37,845,689(+) C/T
NM_018290.4(PGM2):c.966C>T (p.Asp322=)
rs10001580 - p.Glu488Asp
rs17856324 - p.Gly10Asp

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PGM2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PGM2 Gene

Variant ID Type Subtype PubMed ID
nsv526455 CNV loss 19592680

Variation tolerance for PGM2 Gene

Residual Variation Intolerance Score: 58.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.13; 61.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PGM2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGM2 Gene

Disorders for PGM2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PGM2 Gene - From: COP

Disorder Aliases PubMed IDs
melnick-needles syndrome
  • mns
otopalatodigital syndrome spectrum disorder
  • fronto-otopalatodigital osteodysplasia
- elite association - COSMIC cancer census association via MalaCards
Search PGM2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PGM2

genes like me logo Genes that share disorders with PGM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PGM2 Gene

Publications for PGM2 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) 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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
  4. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PMID: 12665801) Gevaert K … Vandekerckhove J (Nature biotechnology 2003) 3 4
  5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4

Products for PGM2 Gene

Sources for PGM2 Gene