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 va... See more...

Aliases for PGM3 Gene

Aliases for PGM3 Gene

  • Phosphoglucomutase 3 2 3 5
  • Acetylglucosamine Phosphomutase 2 3 4
  • Phosphoacetylglucosamine Mutase 2 3 4
  • AGM1 2 3 4
  • PAGM 2 3 4
  • EC 5.4.2.3 4 50
  • PGM 3 3 4
  • N-Acetylglucosamine-Phosphate Mutase 1 3
  • N-Acetylglucosamine-Phosphate Mutase 4
  • Phosphoglucomutase-3 4
  • DKFZP434B187 2
  • EC 5.4.2 50
  • IMD23 3
  • PGM3 5

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 Amino sugar and nucleotide sugar metabolism and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and phosphoglucomutase activity. An important paralog of this gene is PGM2.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PGM3 Gene

Genomics for PGM3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PGM3 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
GH06J083190 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.3 1310 5.2 BCLAF1 SP1 MYC ZNF600 ZNF580 POLR2A ZNF10 ZSCAN16 NFIC ZIC2 RWDD2A PGM3 lnc-ME1-1 DOP1A ME1 HSALNG0051604 HSALNG0051605 RF00017-5145
GH06J082259 Enhancer 1.1 Ensembl ENCODE 18.5 +932.9 932884 4.9 ZNF654 ZNF600 JUND ZNF580 ATF2 ZNF10 ZSCAN16 ZIC2 FEZF1 ZNF639 DOP1A UBE3D PGM3 IBTK TPBG ENSG00000220537 lnc-IBTK-4 HSALNG0051552
GH06J084033 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 -840.1 -840065 1.6 ZNF600 ZNF592 ZIC2 NONO REST SIN3B SKIL CBX1 ZNF2 NRF1 MRAP2 HSALNG0051634 CEP162 PGM3 DOP1A piR-50129-231
GH06J083511 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 10.1 -319.2 -319249 3.6 ZNF654 MYC IKZF1 ZNF600 ZIC2 REST TRIM22 CTCF SIN3A KLF9 PRSS35 PGM3 RWDD2A DOP1A HSALNG0051611 SNAP91
GH06J083866 Enhancer 1.4 FANTOM5 Ensembl ENCODE 10.3 -674.2 -674165 3.8 IKZF1 ZNF600 ZNF580 ZNF592 ATF2 ZSCAN16 CEBPB BHLHE40 FEZF1 ZNF639 CEP162 DOP1A UBE3D RWDD2A PGM3 RIPPLY2 CYB5R4 piR-48364 RF00994-920 MRAP2
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PGM3

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

Genomic Locations for PGM3 Gene

Latest Assembly
chr6:83,150,728-83,193,936
(GRCh38/hg38)
Size:
43,209 bases
Orientation:
Minus strand

Previous Assembly
chr6:83,860,447-83,903,619
(GRCh37/hg19 by Entrez Gene)
Size:
43,173 bases
Orientation:
Minus strand

chr6:83,870,869-83,903,655
(GRCh37/hg19 by Ensembl)
Size:
32,787 bases
Orientation:
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:
    O95394-AGM1_HUMAN
    Recommended name:
    Phosphoacetylglucosamine mutase
    Protein Accession:
    O95394
    Secondary Accessions:
    • B2RB65
    • B4DX94
    • D6RF12
    • E1P547
    • E9PF86
    • Q5JWR4
    • Q96J46
    • Q9H8G5
    • Q9NS94
    • Q9NTT6
    • Q9UFV5
    • Q9UIY2

    Protein attributes for PGM3 Gene

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

    Alternative splice isoforms for PGM3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PGM3 Gene

Selected DME Specific Peptides for PGM3 Gene

O95394:
  • TGVKHLH
  • GVMVTASHNP
  • FDGDADR
  • QTAYANG
  • FEANGHGT

Post-translational modifications for PGM3 Gene

  • Ubiquitination at Lys8
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for PGM3
  • Boster Bio Antibodies for PGM3

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:
  • Phosphoglucomutase-3 (AGM1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95394

UniProtKB/Swiss-Prot:

AGM1_HUMAN :
  • Belongs to the phosphohexose mutase family.
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:
Reaction=N-acetyl-alpha-D-glucosamine 1-phosphate = N-acetyl-D-glucosamine 6-phosphate; Xref=Rhea:RHEA:23804, ChEBI:CHEBI:57513, ChEBI:CHEBI:57776; EC=5.4.2.3; Evidence={ECO:0000269|PubMed:24589341, ECO:0000269|PubMed:24698316, ECO:0000269|PubMed:24931394};.
GENATLAS Biochemistry:
phosphoglucomutase 3

Enzyme Numbers (IUBMB) for PGM3 Gene

Phenotypes From GWAS Catalog 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 IEA,TAS --
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

miRNA for PGM3 Gene

miRTarBase miRNAs that target PGM3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PGM3

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PGM3 Gene

Localization for PGM3 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 PGM3 gene
Compartment Confidence
cytosol 5
cytoskeleton 3
nucleus 3
mitochondrion 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 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 --
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 IEA,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 637
Magnesium Approved, Experimental, Investigational Pharma 0
Glucose 1-phosphate Experimental Pharma 0
Pharmaceutical Solutions Pharma 13050

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
34980-65-9
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
  • Ribulose 5-phosphate
  • Ribulose 5-phosphate, (D)-isomer
4151-19-3
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
18191-20-3
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)
6866-69-9
genes like me logo Genes that share compounds with PGM3: view

Transcripts for PGM3 Gene

mRNA/cDNA for PGM3 Gene

6 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
22 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 PGM3

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
PGM3

Expression for PGM3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PGM3

SOURCE GeneReport for Unigene cluster for PGM3 Gene:

Hs.661665

mRNA Expression by UniProt/SwissProt for PGM3 Gene:

O95394-AGM1_HUMAN
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(4.5)
  • Nervous system(3.4)
  • Spleen(2.4)
  • Kidney(2.3)
  • Heart(2.2)
  • Lung(2.1)
  • Blood(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
  • middle ear
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
Thorax:
  • bronchus
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
General:
  • 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

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia PGM3 29 30
  • 99.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PGM3 29 30
  • 91.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PGM3 29 30
  • 87.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pgm3 29 16 30
  • 83.58 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PGM3 30
  • 83 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pgm3 29
  • 82.5 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PGM3 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PGM3 29 30
  • 73.81 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PGM3 30
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pgm3 29
  • 71.59 (n)
Str.10101 29
African clawed frog
(Xenopus laevis)
Amphibia pgm3-prov 29
Zebrafish
(Danio rerio)
Actinopterygii pgm3 29 30
  • 65.55 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta nst 29 30
  • 54.83 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007215 29
  • 54.17 (n)
Worm
(Caenorhabditis elegans)
Secernentea F21D5.1 29 30
  • 50.06 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PCM1 29 30 32
  • 52.09 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D00858g 29
  • 51.94 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACR015W 29
  • 51.34 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons DRT101 29
  • 52.71 (n)
Rice
(Oryza sativa)
Liliopsida Os07g0195400 29
  • 52.41 (n)
Os.5949 29
Wheat
(Triticum aestivum)
Liliopsida Ta.28381 29
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1296.01c 29
  • 52.37 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU07458 29
  • 50.2 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 50 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8620 29
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

ENSEMBL:
Gene Tree for PGM3 (if available)
TreeFam:
Gene Tree for PGM3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PGM3: view image
Alliance of Genome Resources:
Additional Orthologs for PGM3

Paralogs for PGM3 Gene

Paralogs for PGM3 Gene

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

Variants for PGM3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PGM3 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1002000 Uncertain Significance: Immunodeficiency 23 83,181,820(-) G/C
NM_015599.3(PGM3):c.703C>G (p.Gln235Glu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1002783 Uncertain Significance: Immunodeficiency 23 83,190,844(-) T/C
NM_015599.3(PGM3):c.169A>G (p.Ile57Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1005775 Uncertain Significance: Immunodeficiency 23 83,190,852(-) T/G
NM_015599.3(PGM3):c.161A>C (p.Lys54Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1006641 Uncertain Significance: Immunodeficiency 23 83,170,299(-) G/C
NM_015599.3(PGM3):c.1539+6C>G
SPLICE_DONOR_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1007415 Uncertain Significance: Immunodeficiency 23 83,188,773(-) T/A
NM_015599.3(PGM3):c.230A>T (p.Asp77Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PGM3 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 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)
PGM3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PGM3
Leiden Open Variation Database (LOVD)
PGM3

SNP Genotyping and Copy Number Assays for research

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

Disorders for PGM3 Gene

MalaCards: The human disease database

(14) MalaCards diseases for PGM3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
immunodeficiency 23
  • imd23
hyper ige syndrome
  • hyper immunoglobulin e syndrome
specific antibody deficiency
  • immunodeficiency due to selective anti-polysaccharide antibody deficiency
miliaria pustulosa
immunodeficiency 11b with atopic dermatitis
  • imd11b
- elite association - COSMIC cancer census association via MalaCards
Search PGM3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AGM1_HUMAN
  • 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 variants affecting the gene represented in this entry.

Additional Disease Information for PGM3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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
  3. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. (PMID: 24589341) Zhang Y … Milner JD (The Journal of allergy and clinical immunology 2014) 3 4 72
  4. 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 72
  5. 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 40

Products for PGM3 Gene

Sources for PGM3 Gene