Identity
HGNC
LOCATION
6q14.1
LOCUSID
ALIAS
AGM1,IMD23,PAGM,PGM
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5238
MIM: 172100
HGNC: 8907
Ensembl: ENSG00000013375
Variants:
dbSNP: 5238
ClinVar: 5238
TCGA: ENSG00000013375
COSMIC: PGM3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36768728 | 2023 | Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients. | 1 |
| 36768728 | 2023 | Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients. | 1 |
| 35011738 | 2022 | Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung Cancer. | 7 |
| 35723049 | 2022 | PGM3 regulates beta-catenin activity to promote colorectal cancer cell progression. | 4 |
| 35011738 | 2022 | Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung Cancer. | 7 |
| 35723049 | 2022 | PGM3 regulates beta-catenin activity to promote colorectal cancer cell progression. | 4 |
| 31707513 | 2020 | Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions. | 1 |
| 31707513 | 2020 | Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions. | 1 |
| 30578875 | 2019 | Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients. | 8 |
| 31231132 | 2019 | Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation. | 2 |
| 30578875 | 2019 | Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients. | 8 |
| 31231132 | 2019 | Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation. | 2 |
| 28543917 | 2017 | A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations. | 12 |
| 28704707 | 2017 | A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients. | 11 |
| 28543917 | 2017 | A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations. | 12 |
Citation
Dessen P
PGM3 (phosphoglucomutase 3)
Atlas Genet Cytogenet Oncol Haematol. 2010-10-01
Online version: http://atlasgeneticsoncology.org/gene/51744/pgm3
