Pmp2 peripheral myelin protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pmp2provided by MGI
Official Full Name: peripheral myelin protein 2provided by MGI
Primary source: MGI:MGI:102667
See related: Ensembl:ENSMUSG00000052468 AllianceGenome:MGI:102667
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: P2
Summary: Predicted to enable cholesterol binding activity and fatty acid binding activity. Acts upstream of or within membrane organization. Predicted to be located in cytoplasm and myelin sheath. Predicted to be active in cytosol and nucleus. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 1G. Orthologous to human PMP2 (peripheral myelin protein 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis adult (RPKM 1.3) and mammary gland adult (RPKM 0.5) See more
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Genomic context

Location:: 3 A1; 3 2.54 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (10244911..10248945, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (10179851..10183885, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PMP2 regulates myelin thickening and ATP production during remyelination.
Title: PMP2 regulates myelin thickening and ATP production during remyelination.
In a sciatic nerve crush model, temporal structural and functional changes were found in P2 knock-out animals as compared to wild-type.
Title: The Role of Peripheral Myelin Protein 2 in Remyelination.
Study results, together with observations that Pmp2 binds and transports fatty acids to membranes, uncover a role for Pmp2 in lipid homeostasis of myelinating Schwann cells
Title: A role of peripheral myelin protein 2 in lipid homeostasis of myelinating Schwann cells.

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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 (2)

General gene information

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Markers

D3Mit130 (e-PCR), detects polymorphism
- UniSTS:129537

D3Mit130.3 (e-PCR), detects polymorphism
- UniSTS:142390

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cholesterol binding	ISO Inferred from Sequence Orthology more info
enables cholesterol binding	ISS Inferred from Sequence or Structural Similarity more info
enables fatty acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables fatty acid binding	ISO Inferred from Sequence Orthology more info
enables fatty acid binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in fatty acid transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within membrane organization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in myelin sheath	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: myelin P2 protein

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.