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. Is expressed in several structures, including axis; digestive system; hatching gland; periderm; and polster. 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).
Genome Resources
Note
None
Expression
All Expression Data
11 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pmm2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital disorder of glycosylation Ia Alliance Congenital disorder of glycosylation, type Ia 212065
Associated With pmm2 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR005002 Phosphomannomutase
Family IPR006379 HAD-superfamily hydrolase, subfamily IIB
Homologous_superfamily IPR023214 HAD superfamily
Homologous_superfamily IPR036412 HAD-like superfamily
Homologous_superfamily IPR043169 Phosphomannomutase, cap domain
Domain Details Per Protein
Protein Length HAD-like superfamily HAD superfamily HAD-superfamily hydrolase, subfamily IIB Phosphomannomutase Phosphomannomutase, cap domain
UniProtKB:Q7ZTZ3 250
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations