Identity
HGNC
LOCATION
16p13.2
LOCUSID
ALIAS
CDG1,CDG1a,CDGS,PMI,PMI1,PMM 2
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: 5373
MIM: 601785
HGNC: 9115
Ensembl: ENSG00000140650
Variants:
dbSNP: 5373
ClinVar: 5373
TCGA: ENSG00000140650
COSMIC: PMM2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38430517 | 2024 | Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models. | 1 |
| 38430517 | 2024 | Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models. | 1 |
| 36743691 | 2023 | Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability. | 0 |
| 36773065 | 2023 | Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia. | 1 |
| 38129426 | 2023 | Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study. | 0 |
| 36743691 | 2023 | Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability. | 0 |
| 36773065 | 2023 | Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia. | 1 |
| 38129426 | 2023 | Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study. | 0 |
| 35789514 | 2022 | A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones. | 1 |
| 35789514 | 2022 | A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones. | 1 |
| 33580824 | 2021 | Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes. | 5 |
| 33619652 | 2021 | Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG). | 5 |
| 33811480 | 2021 | Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD). | 2 |
| 34828263 | 2021 | Genotype-Phenotype Correlations in PMM2-CDG. | 7 |
| 33580824 | 2021 | Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes. | 5 |
Citation
Dessen P
PMM2 (phosphomannomutase 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72017/
