PGM3 (phosphoglucomutase 3)

2010-10-01  

Identity

HGNC
LOCATION
6q14.1
LOCUSID
ALIAS
AGM1,IMD23,PAGM,PGM
FUSION GENES

Other Information

Locus ID:

NCBI: 5238
MIM: 172100
HGNC: 8907
Ensembl: ENSG00000013375

Variants:

dbSNP: 5238
ClinVar: 5238
TCGA: ENSG00000013375
COSMIC: PGM3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000013375ENST00000283977J3KN95
ENSG00000013375ENST00000503094D6RC77
ENSG00000013375ENST00000504780H0Y8I3
ENSG00000013375ENST00000505470D6RCD1
ENSG00000013375ENST00000506587O95394
ENSG00000013375ENST00000507554D6RCQ8
ENSG00000013375ENST00000508748D6RF77
ENSG00000013375ENST00000509219H0Y987
ENSG00000013375ENST00000510258D6RIS6
ENSG00000013375ENST00000512866O95394
ENSG00000013375ENST00000513973O95394
ENSG00000013375ENST00000605602S4R390
ENSG00000013375ENST00000616566A0A087WT27
ENSG00000013375ENST00000650640A0A494C099
ENSG00000013375ENST00000650642A0A494C0G1
ENSG00000013375ENST00000651204A0A494C163
ENSG00000013375ENST00000651425A0A494C1E2
ENSG00000013375ENST00000651698A0A494C076
ENSG00000013375ENST00000652222A0A494C1Q4
ENSG00000013375ENST00000652468H0Y987

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Amino sugar and nucleotide sugar metabolismKEGGko00520
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Synthesis of UDP-N-acetyl-glucosamineREACTOMER-HSA-446210

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
245893412014Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.61
249313942014PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.41
246983162014Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.40
121742172002Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1).13
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
266872402016Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation.8
264828712015Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.7
285439172017A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.6
287047072017A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.6
202218142010Polymorphic analysis of the human phosphoglucomutase-3 gene based on mismatched PCR-RFLP technique.0

Citation

Dessen P

PGM3 (phosphoglucomutase 3)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51744/pgm3