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Protein Coding Gene : Pmm2 phosphomannomutase 2

Primary Identifier  MGI:1859214 Organism  mouse, laboratory
Chromosome  16 NCBI Gene Number  54128
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable phosphomannomutase activity. Predicted to be involved in mannose metabolic process and protein N-linked glycosylation. Located in cytoplasm and neuronal cell body. 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).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality around E2.5. Transmission of the maternal null allele is severely impaired. [provided by MGI curators]
  • synonyms:
  • expressed sequence AI585868,
  • MGI:2146724,
  • AI585868,
  • phosphomannomutase 2,
  • expressed sequence C86848,
  • C86848,
  • MGI:2146459,
  • Pmm2

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

6 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For