Pmm2 phosphomannomutase 2 [Mus musculus (house mouse)] - Gene

Summary

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: Enables phosphomannomutase activity. Involved in GDP-mannose biosynthetic process from glucose and GDP-mannose biosynthetic process from mannose. Located in cytoplasm and neuronal cell body. Is active in cytosol. 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, Dec 2024]
Expression: Broad expression in duodenum adult (RPKM 113.6), large intestine adult (RPKM 102.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

C86848 (e-PCR)
- UniSTS:209159

STS-AA022584 (e-PCR)
- UniSTS:71489

NoName (e-PCR)
- UniSTS:237422

AI585868 (e-PCR)
- UniSTS:180857

MARC_26359-29406:1040140027:1 (e-PCR)
- UniSTS:268988

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphomannomutase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphomannomutase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in GDP-mannose biosynthetic process from fructose-6-phosphate	IEA Inferred from Electronic Annotation more info
involved_in GDP-mannose biosynthetic process from glucose	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in GDP-mannose biosynthetic process from mannose	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mannose catabolic 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
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
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	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: phosphomannomutase 2

NP_001349414.1

EC 5.4.2.8

NP_058577.1

EC 5.4.2.8

XP_006522423.1

EC 5.4.2.8

NCBI Reference Sequences (RefSeq)

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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)

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
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

NC_000082.7 Reference GRCm39 C57BL/6J

Range

8455467..8475472

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006522360.5 → XP_006522423.1 phosphomannomutase 2 isoform X1

Conserved Domains (1) summary

cl21460
Location:3 → 162

HAD_like; Haloacid Dehalogenase-like Hydrolases