Pmp22 peripheral myelin protein 22 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Pmp22provided by RGD
Official Full Name: peripheral myelin protein 22provided by RGD
Primary source: RGD:3359
See related: Ensembl:ENSRNOG00000003338 AllianceGenome:RGD:3359
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Gas-3
Summary: Predicted to enable cytoskeletal motor activity. Involved in several processes, including myelination; negative regulation of cell population proliferation; and negative regulation of neuron projection development. Located in bicellular tight junction and compact myelin. Is integral component of membrane. Biomarker of sciatic neuropathy. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); Guillain-Barre syndrome; and hereditary neuropathy with liability to pressure palsies. Orthologous to human PMP22 (peripheral myelin protein 22). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Lung (RPKM 789.0), Muscle (RPKM 646.4) and 8 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 10q23

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	10	NC_086028.1 (48294932..48324941)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	10	NC_051345.1 (47795709..47825715)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	10	NC_005109.4 (49538588..49568583)

Chromosome 10 - NC_086028.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dysregulated miR-29a-3p/PMP22 Modulates Schwann Cell Proliferation and Migration During Peripheral Nerve Regeneration.
Title: Dysregulated miR-29a-3p/PMP22 Modulates Schwann Cell Proliferation and Migration During Peripheral Nerve Regeneration.
AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 A.
Title: AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 A.
Our data show a significant decrease in Pmp22 transcript expression using allele-specific internal controls. Moreover, the P2 promoter of the Pmp22 gene, which is used in other cell types, is affected, but we find that the Schwann cell-specific P1 promoter is disproportionately more sensitive to loss of the super-enhancer.
Title: Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer.
a novel MDA-7/IL-24-GAS3-beta1integrin-fibronectin signaling pathway that suppresses breast cancer growth, is reported.
Title: mda-7/IL-24 expression inhibits breast cancer through upregulation of growth arrest-specific gene 3 (gas3) and disruption of β1 integrin function.
Enhanced PMP22 protein expression and morphological improvements coincide with the abolishment of thermal and mechanical hypersensitivity and pain alleviation after crush injury of a myelinated peripheral nerve.
Title: Dorsal root ganglion application of muscimol prevents hyperalgesia and stimulates myelin protein expression after sciatic nerve injury in rats.
IL-6 can enhance PMP22 production in Schwann cells via a JAK2-dependent pathway by probably activating STAT3 and thus may contribute to myelination.
Title: Interleukin-6 upregulates the expression of PMP22 in cultured rat Schwann cells via a JAK2-dependent pathway.
Data show that Med25 is coordinately expressed with Pmp22 gene dosage and expression in transgenic mice and rats, and suggest a potential role of this protein in the molecular etiology of Charcot-Marie-Tooth disease.
Title: Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
miR-29a represses expression of PMP22; analyses of miR-29 & PMP22 in sciatic nerves reveal inverse relationship, developmentally & in post-crush injury; PMP22 identified as target of miRNAs & suggest miRNAs regulate Schwann cell myelin expression
Title: Peripheral myelin protein 22 is regulated post-transcriptionally by miRNA-29a.
both functions of PMP22, in regulating Schwann cell differentiation and contributing to peripheral myelin compaction, are affected by its overexpression.
Title: PMP22 transgenic dorsal root ganglia cultures show myelin abnormalities similar to those of human CMT1A.
Gas3/PMP22 levels can alter membrane traffic of the Arf6 plasma-membrane-endosomal recycling pathway and show that, similarly to other tetraspan proteins, Gas3/PMP22 can accumulate in the late endosomes
Title: Alterations in the Arf6-regulated plasma membrane endosomal recycling pathway in cells overexpressing the tetraspan protein Gas3/PMP22.

Submit: New GeneRIF Correction See all GeneRIFs (12)

General gene information

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Markers

PMC64694P1 (e-PCR)
- UniSTS:273418

RH94848 (e-PCR)
- UniSTS:120094

RH94849 (e-PCR)
- UniSTS:120095

Pmp22 (e-PCR), detects polymorphism
- UniSTS:144226

Pmp22 (e-PCR), detects polymorphism
- UniSTS:144227

Pmp22-rs (e-PCR), detects polymorphism
- UniSTS:144231

RH138695 (e-PCR)
- UniSTS:220782

RH127495 (e-PCR)
- UniSTS:210805

GDB:189307 (e-PCR)
- UniSTS:155589

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables cytoskeletal motor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Schwann cell development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within Schwann cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within Schwann cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within adult locomotory behavior	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within adult walking behavior	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within aggresome assembly	ISO Inferred from Sequence Orthology more info
involved_in apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within autophagy	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within axon development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within basement membrane organization	ISO Inferred from Sequence Orthology more info
involved_in bleb assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cellular lipid metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular localization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to heat	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to unfolded protein	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cholesterol metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within fibroblast migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gliogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within immune response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lamellipodium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mating	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within membrane raft organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within motor behavior	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within multicellular organism growth	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within muscle cell development	ISO Inferred from Sequence Orthology more info
involved_in myelin assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within myelin assembly	ISO Inferred from Sequence Orthology more info
involved_in myelination	IDA Inferred from Direct Assay more info	PubMed
involved_in myelination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myelination	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within myelination in peripheral nervous system	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neuron projection development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuromuscular junction development, skeletal muscle fiber	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuromuscular process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuronal action potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuronal action potential propagation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuronal ion channel clustering	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within paranodal junction assembly	ISO Inferred from Sequence Orthology more info
involved_in peripheral nervous system development	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within peripheral nervous system development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within peripheral nervous system neuron axonogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within proteasomal protein catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within proteasome-mediated ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of Schwann cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of glial cell apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of inflammatory response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to bacterium	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to endoplasmic reticulum stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within striated muscle cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within transmission of nerve impulse	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within vestibular reflex	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in compact myelin	IDA Inferred from Direct Assay more info	PubMed
located_in compact myelin	ISO Inferred from Sequence Orthology more info
part_of integrin complex	ISO Inferred from Sequence Orthology more info
part_of laminin complex	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: peripheral myelin protein 22

Names: PMP-22; SAG; SR13 myelin protein; schwann cell membrane glycoprotein

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_017037.2 → NP_058733.2 peripheral myelin protein 22

Status: PROVISIONAL

Source sequence(s)

JAXUCZ010000010

UniProtKB/Swiss-Prot

P25094

UniProtKB/TrEMBL

A0A8L2QPH3, A6HFD7

Related

ENSRNOP00000069909.1, ENSRNOT00000081415.2

Conserved Domains (1) summary

pfam00822
Location:1 → 153

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086028.1 Reference GRCr8

Range

48294932..48324941

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006246584.5 → XP_006246646.1 peripheral myelin protein 22 isoform X1

See identical proteins and their annotated locations for XP_006246646.1

UniProtKB/Swiss-Prot

P25094

UniProtKB/TrEMBL

A0A8L2QPH3, A6HFD7

Conserved Domains (1) summary

pfam00822
Location:1 → 153

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
XM_039085208.2 → XP_038941136.1 peripheral myelin protein 22 isoform X1

UniProtKB/Swiss-Prot

P25094

UniProtKB/TrEMBL

A0A8L2QPH3, A6HFD7

Conserved Domains (1) summary

pfam00822
Location:1 → 153

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family