Pmm2 Gene Summary [Mouse]
Enables phosphomannomutase activity. Involved in GDP-mannose biosynthetic process from mannose. Located in cytoplasm and neuronal cell body. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; liver; nose; and respiratory system. Used to study congenital disorder of glycosylation type I. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation and congenital disorder of glycosylation Ia. Orthologous to human PMM2 (phosphomannomutase 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pmm2 |
| Official Name | phosphomannomutase 2 [Source:MGI Symbol;Acc:MGI:1859214] |
| Ensembl ID | ENSMUSG00000022711 |
| Bio databases IDs | |
| Aliases | phosphomannomutase 2 |
| Synonyms | CDG1, CDG1a, CDGS, phosphomannomutase 2, Phosphomannose Mutase 2, PMI, PMI1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Pmm2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- HAD-superfamily hydrolase, subfamily IIB
- enzyme
- protein binding
- Cof subfamily of IIB subfamily of haloacid dehalogenase superfamily
- phosphomannomutase
- Haloacid Dehalogenase-like Hydrolases
- haloacid dehalogenase-like hydrolase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic lymphocytic leukemia
- congenital disorder of glycosylation type 1a
- mental retardation
- cerebellar ataxia
- premature ovarian failure
- hereditary disorder
- autosomal recessive nonsyndromic mental retardation
- cerebellar hypoplasia or atrophy, epilepsy, and global developmental delay
- breast cancer
- open-angle glaucoma
regulated by
- beta-estradiol
- dexamethasone
- valproic acid
- GABA
- CHROMR
- trichostatin A
- CSN5i-3
- NCOA1
- poly rI:rC-RNA
- metribolone
regulates
- ICAM1
- glucose(3)-mannose(9)-N-acetylglucosamine(2)-P-P-dolichol
- mannosyl(5)-N-acetyl(2)-glucose diphosphate dolichol
- GDP-D-mannose
role in cell
- expression in
- cell viability
- growth
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microtubule cytoskeleton
- cilia
- cytosol
- nucleoplasm
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pmm2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- GDP-mannose biosynthetic process
- mannose metabolic process
- protein glycosylation
- protein N-linked glycosylation
Cellular Component
Where in the cell the gene product is active
- cytosol
- neuronal cell body
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- phosphomannomutase activity
- metal ion binding