Property Summary

NCBI Gene PubMed Count 21
PubMed Score 160.16
PubTator Score 88.61

Knowledge Summary


No data available


  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma -1.200 1.8e-06
psoriasis -1.200 1.7e-03
tuberculosis and treatment for 3 months -1.200 1.6e-05
primary pancreatic ductal adenocarcinoma -1.504 2.1e-03
non-small cell lung cancer 1.042 4.0e-15
lung cancer -1.600 9.6e-04
active Crohn's disease 1.452 1.3e-03
diabetes mellitus -1.700 1.7e-02
Breast cancer 2.000 3.1e-02
group 3 medulloblastoma 1.100 1.9e-03
pilocytic astrocytoma 1.400 1.1e-07
ulcerative colitis 1.600 4.3e-07
ovarian cancer 2.500 1.8e-05
pancreatic cancer -1.500 1.5e-03

 OMIM Phenotype (1)

Protein-protein Interaction (2)

Gene RIF (8)

26482871 Data indicate the effect of the phosphoglucomutase 3 (PGM3) mutation for four immunodeficient siblings in a Swedish family.
24931394 define PGM3-CDG as a treatable immunodeficiency, document the power of whole-exome sequencing in gene discoveries for rare disorders, and illustrate the utility of genomic analyses in studying combined and variable phenotypes
24698316 Impairment of PGM3 function leads to a novel primary (inborn) error of development and immunity because biallelic hypomorphic mutations are associated with impaired glycosylation and a hyper-IgE-like phenotype.
24589341 Autosomal recessive hypomorphic PGM3 mutations underlie a disorder of severe atopy, immune deficiency, autoimmunity, intellectual disability, and hypomyelination.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20221814 Polymorphic analysis of the human phosphoglucomutase-3 gene.
20221814 Observational study of genotype prevalence. (HuGE Navigator)
12174217 PGM(3) is identical to AGM(1).

AA Sequence


Text Mined References (31)

PMID Year Title
26482871 2015 Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.
24931394 2014 PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
24698316 2014 Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
24589341 2014 Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21159204 2010 Down-regulation of phosphoglucomutase 3 mediates sulforaphane-induced cell death in LNCaP prostate cancer cells.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20221814 2010 Polymorphic analysis of the human phosphoglucomutase-3 gene based on mismatched PCR-RFLP technique.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12752494 2003 N-acetylglucosamine-phosphate mutase genotype and diabetic microvascular complications.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12174217 2002 Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1).
11004509 2000 Functional cloning and mutational analysis of the human cDNA for phosphoacetylglucosamine mutase: identification of the amino acid residues essential for the catalysis.
10721701 2000 Cloning and characterization of complementary DNA encoding human N-acetylglucosamine-phosphate mutase protein.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
6461922 1982 Phosphoglucomutase: evidence for a new locus expressed in human milk.
508567 1979 Isoenzymes of hexokinase, 6-phosphogluconate dehydrogenase, phosphoglucomutase and lactate dehydrogenase in uterine cancer.
468082 Studies on the frequencies of PGM1, PGM3 and Es-D types from hair roots in Japanese subjects and the determination of these types from old hair roots.
203189 1977 Isozyme patterns in erythrocytes from human fetuses.