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Aliases for PGM3 Gene

Aliases for PGM3 Gene

  • Phosphoglucomutase 3 2 3 5
  • Acetylglucosamine Phosphomutase 2 3 4
  • PGM 3 3 4
  • AGM1 3 4
  • PAGM 3 4
  • N-Acetylglucosamine-Phosphate Mutase 1 3
  • N-Acetylglucosamine-Phosphate Mutase 4
  • Phosphoacetylglucosamine Mutase 3
  • Phosphoglucomutase-3 4
  • EC 4
  • IMD23 3

External Ids for PGM3 Gene

Previous GeneCards Identifiers for PGM3 Gene

  • GC06U990094
  • GC06M083841
  • GC06M083874
  • GC06M083935
  • GC06M083876
  • GC06M081106

Summaries for PGM3 Gene

Entrez Gene Summary for PGM3 Gene

  • This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for PGM3 Gene

PGM3 (Phosphoglucomutase 3) is a Protein Coding gene. Diseases associated with PGM3 include Immunodeficiency 23 and Hyper Ige Syndrome. Among its related pathways are Metabolism of proteins and Amino sugar and nucleotide sugar metabolism. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and phosphoglucomutase activity.

UniProtKB/Swiss-Prot for PGM3 Gene

  • Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation.

Gene Wiki entry for PGM3 Gene

Additional gene information for PGM3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGM3 Gene

Genomics for PGM3 Gene

GeneHancer (GH) Regulatory Elements for PGM3 Gene

Promoters and enhancers for PGM3 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
GH06J083192 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.5 527 2.4 HDGF SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B RWDD2A PGM3 DOPEY1 ME1 GC06M083097
GH06J083215 Enhancer 1 Ensembl ENCODE 12.1 -21.8 -21772 1 RB1 INSM2 ARID4B ZNF2 RAD21 YY1 ZNF143 RCOR1 BCLAF1 RUNX3 PRSS35 RWDD2A PGM3 UBE3D DOPEY1 GC06M083097 GC06P083243 ME1
GH06J082259 Enhancer 1 ENCODE 9.9 +932.2 932238 3.6 PKNOX1 ARNT FEZF1 ZNF2 YY1 ZNF213 FOS KLF13 SP3 REST GC06P082262 DOPEY1 UBE3D LOC100132659 IBTK TPBG PGM3
GH06J082245 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 4 +946.6 946598 3.9 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B IBTK RNU6-130P TPBG PGM3 GC06P082230
GH06J083221 Enhancer 0.6 FANTOM5 13.5 -27.8 -27838 0.2 CTCF ZNF362 ZNF512B KLF16 ZNF512 PRDM1 PRSS35 PGM3 RWDD2A UBE3D GC06M083097 GC06P083243 ME1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PGM3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PGM3 gene promoter:
  • Msx-1
  • Pax-2a
  • Pax-2
  • MyoD
  • Sox9
  • RORalpha1
  • ATF6
  • POU3F2
  • RSRFC4
  • Evi-1

Genomic Locations for PGM3 Gene

Genomic Locations for PGM3 Gene
41,965 bases
Minus strand
32,787 bases
Minus strand

Genomic View for PGM3 Gene

Genes around PGM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGM3 Gene

Proteins for PGM3 Gene

  • Protein details for PGM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phosphoacetylglucosamine mutase
    Protein Accession:
    Secondary Accessions:
    • B2RB65
    • B4DX94
    • D6RF12
    • E1P547
    • E9PF86
    • Q5JWR4
    • Q96J46
    • Q9H8G5
    • Q9NS94
    • Q9NTT6
    • Q9UFV5
    • Q9UIY2

    Protein attributes for PGM3 Gene

    542 amino acids
    Molecular mass:
    59852 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    • Sequence=BAB14652.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PGM3 Gene


neXtProt entry for PGM3 Gene

Post-translational modifications for PGM3 Gene

  • Ubiquitination at isoforms=3, 48
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PGM3 Gene

Domains & Families for PGM3 Gene

Gene Families for PGM3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PGM3 Gene

GenScript: Design optimal peptide antigens:

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 PGM3: view

Function for PGM3 Gene

Molecular function for PGM3 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation.
UniProtKB/Swiss-Prot CatalyticActivity:
N-acetyl-alpha-D-glucosamine 1-phosphate = N-acetyl-D-glucosamine 6-phosphate.
GENATLAS Biochemistry:
phosphoglucomutase 3

Enzyme Numbers (IUBMB) for PGM3 Gene

Gene Ontology (GO) - Molecular Function for PGM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004610 phosphoacetylglucosamine mutase activity TAS,IEA --
GO:0004614 phosphoglucomutase activity IEA --
GO:0016853 isomerase activity IEA --
GO:0016868 intramolecular transferase activity, phosphotransferases IEA --
genes like me logo Genes that share ontologies with PGM3: view
genes like me logo Genes that share phenotypes with PGM3: view

Human Phenotype Ontology for PGM3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for PGM3 Gene

miRTarBase miRNAs that target PGM3

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for PGM3 Gene

Localization for PGM3 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 PGM3 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PGM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS,IBA --
genes like me logo Genes that share ontologies with PGM3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PGM3 Gene

Pathways & Interactions for PGM3 Gene

genes like me logo Genes that share pathways with PGM3: view

UniProtKB/Swiss-Prot O95394-AGM1_HUMAN

  • Pathway: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I): step 2/2.

Gene Ontology (GO) - Biological Process for PGM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006041 glucosamine metabolic process NAS 11004509
GO:0006048 UDP-N-acetylglucosamine biosynthetic process TAS --
GO:0006487 protein N-linked glycosylation IMP 24589341
GO:0006493 protein O-linked glycosylation IMP 24589341
genes like me logo Genes that share ontologies with PGM3: view

No data available for SIGNOR curated interactions for PGM3 Gene

Drugs & Compounds for PGM3 Gene

(4) Drugs for PGM3 Gene - From: ClinicalTrials and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Warfarin Approved Pharma 505
Magnesium Approved Nutra 0
Glucose 1-phosphate Experimental Pharma 0
Pharmaceutical Solutions Pharma 9000

(4) Additional Compounds for PGM3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Ribose 5-phosphate
  • D-Ribose 5'-phosphate
  • D-Ribose-5-P
  • Ribose 5-phosphate
  • D-Ribose 5'-phosphoric acid
  • D-Ribose 5-phosphoric acid
D-Ribulose 5-phosphate
  • D-erythro-Pent-2-ulose 5-(dihydrogen phosphate)
  • D-erythro-Pent-2-ulose 5-(dihydrogen phosphoric acid)
  • D-Ribulose 5-phosphoric acid
N-Acetyl-D-Glucosamine 6-Phosphate
  • 2-acetamido-2-Deoxy-6-O-phosphono-D-glucopyranose
  • N-Acetyl-D-glucosamine 6-phosphoric acid
  • N-Acetyl-D-glucosamine-6-P
  • N-Acetyl-D-glucosamine-6-phosphate
  • N-Acetyl-glucosamine-6-P
N-Acetyl-glucosamine 1-phosphate
  • 2-(acetylamino)-2-Deoxy-D-glucopyranose 1-(dihydrogen phosphate)
  • 2-acetamido-2-Deoxy-1-O-phosphono-D-glucopyranose
  • N-Acetyl-D-glucosamine 1-phosphate
  • N-Acetylglucosamine-1-phosphate
  • 2-(acetylamino)-2-Deoxy-D-glucopyranose 1-(dihydrogen phosphoric acid)
genes like me logo Genes that share compounds with PGM3: view

Transcripts for PGM3 Gene

Unigene Clusters for PGM3 Gene

Phosphoglucomutase 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PGM3 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
SP1: -
SP2: - -
SP3: -
SP4: - - -
SP5: -

Relevant External Links for PGM3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PGM3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PGM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PGM3 Gene

This gene is overexpressed in Oral epithelium (11.4), Bone marrow stromal cell (6.9), and Salivary gland (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PGM3 Gene

Protein tissue co-expression partners for PGM3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PGM3 Gene:


SOURCE GeneReport for Unigene cluster for PGM3 Gene:


mRNA Expression by UniProt/SwissProt for PGM3 Gene:

Tissue specificity: Found in many tissues except lung. Relatively high expression in pancreas, heart, liver, and placenta, and relatively low expression in brain, skeletal muscle and kidney.

Evidence on tissue expression from TISSUES for PGM3 Gene

  • Liver(4.3)
  • Nervous system(3.1)
  • Spleen(2.5)
  • Blood(2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PGM3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • ear
  • head
  • middle ear
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • bronchus
  • lung
  • rib
  • rib cage
  • pelvis
  • blood
  • bone marrow
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PGM3: view

No data available for mRNA differential expression in normal tissues for PGM3 Gene

Orthologs for PGM3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PGM3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PGM3 34 33
  • 99.42 (n)
(Canis familiaris)
Mammalia PGM3 34 33
  • 91.14 (n)
(Bos Taurus)
Mammalia PGM3 34 33
  • 87.7 (n)
(Mus musculus)
Mammalia Pgm3 16 34 33
  • 83.58 (n)
(Monodelphis domestica)
Mammalia PGM3 34
  • 83 (a)
(Rattus norvegicus)
Mammalia Pgm3 33
  • 82.5 (n)
(Ornithorhynchus anatinus)
Mammalia PGM3 34
  • 78 (a)
(Gallus gallus)
Aves PGM3 34 33
  • 73.81 (n)
(Anolis carolinensis)
Reptilia PGM3 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pgm3 33
  • 71.59 (n)
Str.10101 33
African clawed frog
(Xenopus laevis)
Amphibia pgm3-prov 33
(Danio rerio)
Actinopterygii pgm3 34 33
  • 65.55 (n)
fruit fly
(Drosophila melanogaster)
Insecta nst 34 33
  • 54.83 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007215 33
  • 54.17 (n)
(Caenorhabditis elegans)
Secernentea F21D5.1 34 33
  • 50.06 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PCM1 36 34 33
  • 52.09 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D00858g 33
  • 51.94 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR015W 33
  • 51.34 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons DRT101 33
  • 52.71 (n)
(Oryza sativa)
Liliopsida Os07g0195400 33
  • 52.41 (n)
Os.5949 33
(Triticum aestivum)
Liliopsida Ta.28381 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1296.01c 33
  • 52.37 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07458 33
  • 50.2 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
Cin.8620 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8620 33
Species where no ortholog for PGM3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PGM3 Gene

Gene Tree for PGM3 (if available)
Gene Tree for PGM3 (if available)
Evolutionary constrained regions (ECRs) for PGM3: view image

Paralogs for PGM3 Gene

No data available for Paralogs for PGM3 Gene

Variants for PGM3 Gene

Sequence variations from dbSNP and Humsavar for PGM3 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs150763574 benign, Immunodeficiency 23 83,190,980(-) T/C coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs201392846 uncertain-significance, Immunodeficiency 23 83,188,611(-) C/T intron_variant
rs267608259 pathogenic, Hyper-IgE syndrome 83,178,681(-) CTTCTTC/CTTC coding_sequence_variant, inframe_deletion, non_coding_transcript_variant
rs267608260 pathogenic, Immunodeficiency 23, Hyper-IgE syndrome, Immunodeficiency 23 (IMD23) [MIM:615816] 83,188,755(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs267608261 pathogenic, Immunodeficiency 23, Hyper-IgE syndrome, Immunodeficiency 23 (IMD23) [MIM:615816] 83,170,340(-) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PGM3 Gene

Variant ID Type Subtype PubMed ID
esv2664853 CNV deletion 23128226
nsv1026095 CNV gain 25217958

Variation tolerance for PGM3 Gene

Residual Variation Intolerance Score: 63.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.13; 84.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PGM3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGM3 Gene

Disorders for PGM3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PGM3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 23
  • imd23
hyper ige syndrome
  • job syndrome
desbuquois dysplasia
  • desbuquois syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PGM3 in MalaCards View complete list of genes associated with diseases


  • Immunodeficiency 23 (IMD23) [MIM:615816]: A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity. {ECO:0000269 PubMed:24589341, ECO:0000269 PubMed:24698316, ECO:0000269 PubMed:24931394}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PGM3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PGM3: view

No data available for Genatlas for PGM3 Gene

Publications for PGM3 Gene

  1. Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1). (PMID: 12174217) Pang H … Kimura H (Annals of human genetics 2002) 2 3 4 22 58
  2. Cloning and characterization of complementary DNA encoding human N-acetylglucosamine-phosphate mutase protein. (PMID: 10721701) Li C … Banerjee D (Gene 2000) 2 3 4 22 58
  3. Polymorphic analysis of the human phosphoglucomutase-3 gene based on mismatched PCR-RFLP technique. (PMID: 20221814) Pang H … Ding M (Biochemical genetics 2010) 3 22 44 58
  4. Functional cloning and mutational analysis of the human cDNA for phosphoacetylglucosamine mutase: identification of the amino acid residues essential for the catalysis. (PMID: 11004509) Mio T … Yamada-Okabe H (Biochimica et biophysica acta 2000) 3 4 22 58
  5. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. (PMID: 24931394) Stray-Pedersen A … Hanson IC (American journal of human genetics 2014) 3 4 58

Products for PGM3 Gene

Sources for PGM3 Gene

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