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

Expression

All Expression Data

11 figures from 4 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

cb626 (21 images)
IMAGE:7142433 (1 image)

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

Human Disease	Fish	Conditions	Citations
congenital disorder of glycosylation type I	WT + MO2-pmm2	standard conditions	Cline et al., 2012

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