PMM2 - phosphomannomutase 2 Gene
Also Known as PMI; CDG1; CDGS; PMI1; CDG1a; PMM 2
Species: Homo sapiens
About PMM2
This gene has 28 transcripts (splice variants), 219 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in colon (RPKM 15.9), duodenum (RPKM 13.3) and 25 other tissues.
Summary
The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]
PMM2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000303.3 | NP_000294.1 | phosphomannomutase 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables phosphomannomutase activity |
EXP
EXP: Inferred from Experiment
|
16540464 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25416956 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in GDP-mannose biosynthetic process from fructose-6-phosphate |
IMP
IMP: Inferred from mutant phenotype
|
9525984 | GOA |
| involved in GDP-mannose biosynthetic process from mannose |
IMP
IMP: Inferred from mutant phenotype
|
9525984 | GOA |
| involved in mannose catabolic process |
IMP
IMP: Inferred from mutant phenotype
|
9525984 | GOA |
PMM2 Protein Structure
PMM: Eukaryotic phosphomannomutase (28 - 245)
- 0
- 100
- 200
- 246 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
phosphomannomutase 2 |
|
PMM2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PMM2 | O15305 | SGK2 | Homo sapiens | Q9HBY8-2 | 32296183 | |
|
Intra
|
PMM2 | O15305 | SGK2 | Homo sapiens | Q9HBY8-2 | 32296183 | |
|
Intra
|
PMM2 | O15305 | SGK2 | Homo sapiens | Q9HBY8-2 | 32296183 | |
|
Intra
|
PMM2 | O15305 | MEOX2 | Homo sapiens | Q6FHY5 | 32296183 | |
|
Intra
|
PMM2 | O15305 | MEOX2 | Homo sapiens | Q6FHY5 | 32296183 | |
|
Intra
|
PMM2 | O15305 | MEOX2 | Homo sapiens | Q6FHY5 | 32296183 | |
|
Intra
|
PMM2 | O15305 | ACY3 | Homo sapiens | Q96HD9 | 26871637 | |
|
Intra
|
PMM2 | O15305 | ACY3 | Homo sapiens | Q96HD9 | 32296183 | |
|
Intra
|
PMM2 | O15305 | ACY3 | Homo sapiens | Q96HD9 | 26871637 | |
|
Intra
|
PMM2 | O15305 | ACY3 | Homo sapiens | Q96HD9 | 32296183 | |
|
Intra
|
PMM2 | O15305 | ACY3 | Homo sapiens | Q96HD9 | 26871637 | |
|
Intra
|
PMM2 | O15305 | ACY3 | Homo sapiens | Q96HD9 | 32296183 | |
|
Intra
|
PMM2 | O15305 | ACY3 | Homo sapiens | Q96HD9 | 25416956 | |
|
Intra
|
PMM2 | O15305 | ACY3 | Homo sapiens | Q96HD9 | 25416956 |
Recombinant PMM2 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P71021 | PMM2 Protein, Human (His) | O15305-1 (M1-S246) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Congenital Disorder Of Glycosylation, Type Ia |
|
|
| Cerebral Atrophy |
|
|
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
|
| Developmental And Epileptic Encephalopathy 36 |
|
|
| Spasticity |
|
|
| Aceruloplasminemia |
|
|
| Premature Menopause |
|
|
| Cerebral Palsy |
|
|
| Cerebellar Hypoplasia |
|
|
| Muscular Dystrophy |
|
|
| Congenital Disorder Of Glycosylation, Type Ic |
|
|
| Dissociated Nystagmus |
|
|
| Immunodeficiency 47 |
|
|
| Munchausen By Proxy |
|
|
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
|
| Diabetes Mellitus |
|
|
| Galactosemia I |
|
|
| Congenital Disorder Of Glycosylation, Type Iid |
|
|
| Ngly1-Deficiency |
|
|
| Congenital Disorder Of Glycosylation, Type Iin |
|
|
| Congenital Disorder Of Glycosylation, Type Iia |
|
|
| Fructose-1,6-Bisphosphatase Deficiency |
|
|
| Protein-Losing Enteropathy |
|
|
| Esotropia |
|
|
| Epidermolysis Bullosa, Junctional 1b, Severe |
|
|
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
|
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
|
| Congenital Disorder Of Glycosylation, Type Iik |
|
|
| Congenital Disorder Of Glycosylation, Type Iii |
|
|
| Hyperinsulinemic Hypoglycemia |
|
|
| Retinitis Pigmentosa |
|
|
| Walker-Warburg Syndrome |
|
|
| Thrombocytopenia |
|
|
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
|
| Strabismus |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | PMM2 | VGNC | VGNC:44734 |
| Mus musculus | PMM2 | MGD | MGI:1859214 |
| Felis catus | PMM2 | VGNC | VGNC:68922 |
| Macaca mulatta | PMM2 | VGNC | VGNC:76193 |
| Rattus norvegicus | PMM2 | RGD | RGD:1309366 |
| Bos taurus | PMM2 | VGNC | VGNC:33073 |
| Others | PMM2 | NCBI |