Gene
pmm2
- ID
- ZDB-GENE-030722-6
- Name
- phosphomannomutase 2
- Symbol
- pmm2 Nomenclature History
- Previous Names
-
- cb626 (1)
- it768
- unm_it768
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have phosphomannomutase activity. Involved in neurogenesis; protein N-linked glycosylation; and skeletal system development. Predicted to localize to cytosol. 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. Is expressed in several structures, including axis; digestive system; hatching gland; periderm; and polster. Orthologous to human PMM2 (phosphomannomutase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb626 (21 images)
- IMAGE:7142433 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 17 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital disorder of glycosylation Ia | Alliance | Congenital disorder of glycosylation, type Ia | 212065 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| congenital disorder of glycosylation type I | WT + MO2-pmm2 | standard conditions | Cline et al., 2012 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | HAD-like superfamily | HAD superfamily | HAD-superfamily hydrolase, subfamily IIB | Phosphomannomutase | Phosphomannomutase, cap domain |
|---|---|---|---|---|---|---|
|
UniProtKB:Q7ZTZ3
|
250 |
Interactions and Pathways
No data available
Plasmids
No data available