Pmp22 peripheral myelin protein 22 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pmp22provided by MGI
Official Full Name: peripheral myelin protein 22provided by MGI
Primary source: MGI:MGI:97631
See related: Ensembl:ENSMUSG00000018217 AllianceGenome:MGI:97631
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
Also known as: Tr; HNPP; Gas-3; PMP-22; TRE002; trembler
Summary: Enables cytoskeletal motor activity. Acts upstream of or within several processes, including nervous system development; regulation of apoptotic process; and regulation of gene expression. Located in several cellular components, including cell surface; compact myelin; and perinuclear region of cytoplasm. Part of integrin complex and laminin complex. Is expressed in several structures, including alimentary system; intraembryonic coelom; lung; musculoskeletal system; and nervous system. Used to study Charcot-Marie-Tooth disease type 1A; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease type 3; and hereditary neuropathy with liability to pressure palsies. 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, Nov 2024]
Expression: Broad expression in lung adult (RPKM 99.7), small intestine adult (RPKM 77.0) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B3; 11 38.99 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (63019808..63050373)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (63128982..63159547)

Chromosome 11 - NC_000077.7 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: Mouse ENCODE transcriptome data 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?

PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells.
Title: PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells.
Demyelination and Na[+] Channel Redistribution Underlie Auditory and Vestibular Dysfunction in PMP22-Null Mice.
Title: Demyelination and Na(+) Channel Redistribution Underlie Auditory and Vestibular Dysfunction in PMP22-Null Mice.
A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice.
Title: A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice.
Role of peripheral myelin protein 22 in chronic exercise-induced interactions of muscle and bone in mice.
Title: Role of peripheral myelin protein 22 in chronic exercise-induced interactions of muscle and bone in mice.
Colocalization Analysis of Peripheral Myelin Protein-22 and Lamin-B1 in the Schwann Cell Nuclei of Wt and TrJ Mice.
Title: Colocalization Analysis of Peripheral Myelin Protein-22 and Lamin-B1 in the Schwann Cell Nuclei of Wt and TrJ Mice.
Inhibition of protein PMP22 enhances etoposide-induced cell apoptosis by p53 signaling pathway in Gastric Cancer.
Title: Inhibition of protein PMP22 enhances etoposide-induced cell apoptosis by p53 signaling pathway in Gastric Cancer.
Central Alteration in Peripheral Neuropathy of Trembler-J Mice: Hippocampal pmp22 Expression and Behavioral Profile in Anxiety Tests.
Title: Central Alteration in Peripheral Neuropathy of Trembler-J Mice: Hippocampal pmp22 Expression and Behavioral Profile in Anxiety Tests.
Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.
Title: Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.
Study shows that PMP22 Regulates Cholesterol Trafficking and ABCA1-Mediated Cholesterol Efflux.
Title: PMP22 Regulates Cholesterol Trafficking and ABCA1-Mediated Cholesterol Efflux.
identification of a signaling pathway that involves RUNX1/3 and suppression of Pmp22 with a role in neurofibroma initiation and/or maintenance
Title: RUNX represses Pmp22 to drive neurofibromagenesis.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Variation

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Alleles

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

Chemically induced (ENU) (5) 1 citation
Endonuclease-mediated (1)
Spontaneous (4) 1 citation
Targeted (2) 1 citation

General gene information

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Markers

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

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

Pmp22 (e-PCR), detects polymorphism
- UniSTS:144228

Pmp22 (e-PCR), detects polymorphism
- UniSTS:144229

Pmp22 (e-PCR), detects polymorphism
- UniSTS:144230

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

M32240 (e-PCR)
- UniSTS:160103

RH138695 (e-PCR)
- UniSTS:220782

D11Mit88 (e-PCR), detects polymorphism
- UniSTS:126636

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

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cytoskeletal motor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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

Component	Evidence Code	Pubs
located_in bicellular tight junction	ISO Inferred from Sequence Orthology more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
part_of laminin complex	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor 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: growth arrest-specific protein 3; peripheral myelin protein, 22 kDa

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_001302255.2 → NP_001289184.1 peripheral myelin protein 22 isoform 1

See identical proteins and their annotated locations for NP_001289184.1

Status: VALIDATED

Source sequence(s)

AL592215

Consensus CDS

CCDS24837.1

UniProtKB/Swiss-Prot

P16646, Q91XF9

UniProtKB/TrEMBL

Q5SXS3

Conserved Domains (1) summary

pfam00822
Location:1 → 153

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001302257.2 → NP_001289186.1 peripheral myelin protein 22 isoform 1

See identical proteins and their annotated locations for NP_001289186.1

Status: VALIDATED

Source sequence(s)

AL592215

Consensus CDS

CCDS24837.1

UniProtKB/Swiss-Prot

P16646, Q91XF9

UniProtKB/TrEMBL

Q5SXS3

Conserved Domains (1) summary

pfam00822
Location:1 → 153

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001302258.2 → NP_001289187.1 peripheral myelin protein 22 isoform 1

See identical proteins and their annotated locations for NP_001289187.1

Status: VALIDATED

Source sequence(s)

AL592215

Consensus CDS

CCDS24837.1

UniProtKB/Swiss-Prot

P16646, Q91XF9

UniProtKB/TrEMBL

Q5SXS3

Related

ENSMUSP00000104342.2, ENSMUST00000108702.8

Conserved Domains (1) summary

pfam00822
Location:1 → 153

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001302259.2 → NP_001289188.1 peripheral myelin protein 22 isoform 1

See identical proteins and their annotated locations for NP_001289188.1

Status: VALIDATED

Source sequence(s)

AL592215

Consensus CDS

CCDS24837.1

UniProtKB/Swiss-Prot

P16646, Q91XF9

UniProtKB/TrEMBL

Q5SXS3

Related

ENSMUSP00000104341.2, ENSMUST00000108701.8

Conserved Domains (1) summary

pfam00822
Location:1 → 153

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001302260.2 → NP_001289189.1 peripheral myelin protein 22 isoform 1

See identical proteins and their annotated locations for NP_001289189.1

Status: VALIDATED

Source sequence(s)

AL592215

Consensus CDS

CCDS24837.1

UniProtKB/Swiss-Prot

P16646, Q91XF9

UniProtKB/TrEMBL

Q5SXS3

Conserved Domains (1) summary

pfam00822
Location:1 → 153

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001302261.2 → NP_001289190.1 peripheral myelin protein 22 isoform 2

Status: VALIDATED

Source sequence(s)

AL592215

UniProtKB/TrEMBL

Q5SXS3

Conserved Domains (1) summary

cl21598
Location:1 → 85

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001404142.1 → NP_001391071.1 peripheral myelin protein 22 isoform 1

Status: VALIDATED

Source sequence(s)

AL592215

UniProtKB/TrEMBL

Q5SXS3
NM_001404143.1 → NP_001391072.1 peripheral myelin protein 22 isoform 1

Status: VALIDATED

Source sequence(s)

AL592215

UniProtKB/TrEMBL

Q5SXS3
NM_001404277.1 → NP_001391206.1 peripheral myelin protein 22 isoform 3

Status: VALIDATED

Source sequence(s)

AL592215
NM_001404278.1 → NP_001391207.1 peripheral myelin protein 22 isoform 4

Status: VALIDATED

Source sequence(s)

AL592215
NM_001404279.1 → NP_001391208.1 peripheral myelin protein 22 isoform 2

Status: VALIDATED

Source sequence(s)

AL592215
NM_001404280.1 → NP_001391209.1 peripheral myelin protein 22 isoform 2

Status: VALIDATED

Source sequence(s)

AL592215
NM_001404281.1 → NP_001391210.1 peripheral myelin protein 22 isoform 2

Status: VALIDATED

Source sequence(s)

AL592215
NM_001404282.1 → NP_001391211.1 peripheral myelin protein 22 isoform 2

Status: VALIDATED

Source sequence(s)

AL592215
NM_001404283.1 → NP_001391212.1 peripheral myelin protein 22 isoform 2

Status: VALIDATED

Source sequence(s)

AL592215
NM_001404284.1 → NP_001391213.1 peripheral myelin protein 22 isoform 2

Status: VALIDATED

Source sequence(s)

AL592215
NM_001404285.1 → NP_001391214.1 peripheral myelin protein 22 isoform 2

Status: VALIDATED

Source sequence(s)

AL592215
NM_001404286.1 → NP_001391215.1 peripheral myelin protein 22 isoform 2

Status: VALIDATED

Source sequence(s)

AL592215
NM_001404287.1 → NP_001391216.1 peripheral myelin protein 22 isoform 2

Status: VALIDATED

Source sequence(s)

AL592215
NM_001404288.1 → NP_001391217.1 peripheral myelin protein 22 isoform 2

Status: VALIDATED

Source sequence(s)

AL592215
NM_001404289.1 → NP_001391218.1 peripheral myelin protein 22 isoform 2

Status: VALIDATED

Source sequence(s)

AL592215
NM_001404290.1 → NP_001391219.1 peripheral myelin protein 22 isoform 2

Status: VALIDATED

Source sequence(s)

AL592215
NM_008885.4 → NP_032911.1 peripheral myelin protein 22 isoform 1

See identical proteins and their annotated locations for NP_032911.1

Status: VALIDATED

Source sequence(s)

AL592215

Consensus CDS

CCDS24837.1

UniProtKB/Swiss-Prot

P16646, Q91XF9

UniProtKB/TrEMBL

Q5SXS3

Related

ENSMUSP00000018361.4, ENSMUST00000018361.10

Conserved Domains (1) summary

pfam00822
Location:1 → 153

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