U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Pmm2 phosphomannomutase 2 [ Mus musculus (house mouse) ]

Gene ID: 54128, updated on 18-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
Pmm2provided by MGI
Official Full Name
phosphomannomutase 2provided by MGI
Primary source
MGI:MGI:1859214
See related
Ensembl:ENSMUSG00000022711 AllianceGenome:MGI:1859214
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
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). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in duodenum adult (RPKM 113.6), large intestine adult (RPKM 102.0) and 28 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
16 A1; 16 4.24 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (8455467..8475472)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (8637613..8657608)

Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene 4-aminobutyrate aminotransferase Neighboring gene zinc finger, MYND domain containing 19 pseudogene Neighboring gene ferritin light chain 2 pseudogene Neighboring gene transmembrane protein 186 Neighboring gene STARR-positive B cell enhancer ABC_E8616 Neighboring gene calcium regulated heat stable protein 1 Neighboring gene LITAF domain containing Neighboring gene ubiquitin specific peptidase 7 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:8745912-8746157

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice. Schneider A, et al. Nat Med, 2011 Dec 11. PMID 22157680
  2. Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality. Thiel C, et al. Mol Cell Biol, 2006 Aug. PMID 16847317, Free PMC Article
  3. A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones. Segovia-Falquina C, et al. Hum Mutat, 2022 Oct. PMID 35789514
  4. Ontogeny of D-mannose transport and metabolism in rat small intestine. Cano M, et al. J Membr Biol, 2010 Jun. PMID 20523973
  5. Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2. Heykants L, et al. Gene, 2001 May 30. PMID 11404002

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
    Title: A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
  2. This functional mouse model of PMM2-CDG, in vitro assays and identification of the novel gp130 biomarker all shed light on the human disease, and moreover, provide the essential tools to test potential therapeutics for this untreatable disease.
    Title: A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.
  3. Pmm2 activity in jejunum increased during the early stages of life, and it decreased at 1 month old, as does the amount of mannose incorporated into glycoproteins, whereas in the ileum, they were not affected by age.
    Title: Ontogeny of D-mannose transport and metabolism in rat small intestine.
  4. Pmm2 immunoreactivity seen in prenatal brain until postnatal and adult stage and restricted in neuronal cell bodies.
    Title: Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development.
  5. These results indicate that Pmm2 is essential for early development of mice.
    Title: Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality.
Submit: New GeneRIF Correction

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (8)  1 citation

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphomannomutase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in GDP-mannose biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in mannose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein N-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  

General protein information

Go to the top of the page Help
Preferred Names
phosphomannomutase 2
NP_001349414.1
NP_058577.1
XP_006522423.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001362485.1 → NP_001349414.1  phosphomannomutase 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC115005, AF043514, AK002858
    UniProtKB/TrEMBL
    Q9D1M5, Q9DCE3
    Conserved Domains (1) summary
    cd02585
    Location:4 → 230
    HAD_PMM; phosphomannomutase, similar to human PMM1 and PMM2, Saccharomyces Sec53p, and Arabidopsis thaliana PMM

  2. NM_016881.3 → NP_058577.1  phosphomannomutase 2 isoform 1

    See identical proteins and their annotated locations for NP_058577.1

    Status: VALIDATED

    Source sequence(s)
    AC115005
    Consensus CDS
    CCDS27941.1
    UniProtKB/Swiss-Prot
    Q9Z2M7
    UniProtKB/TrEMBL
    Q545N8, Q9D1M5
    Related
    ENSMUSP00000023396.10, ENSMUST00000023396.10
    Conserved Domains (2) summary
    PTZ00174
    Location:3 → 241
    PTZ00174; phosphomannomutase; Provisional
    TIGR01484
    Location:6 → 217
    HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    8455467..8475472
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006522360.5 → XP_006522423.1  phosphomannomutase 2 isoform X1

    Conserved Domains (1) summary
    cl21460
    Location:3 → 162
    HAD_like; Haloacid Dehalogenase-like Hydrolases
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Z2M7.1 GenPept UniProtKB/Swiss-Prot:Q9Z2M7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous