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Aliases for PMP22 Gene

Aliases for PMP22 Gene

  • Peripheral Myelin Protein 22 2 3 5
  • Growth Arrest-Specific Protein 3 3 4
  • GAS-3 3 4
  • GAS3 3 4
  • Peripheral Myelin Protein 22 KDa 3
  • HMSNIA 3
  • PMP-22 4
  • SP110 3
  • CMT1A 3
  • CMT1E 3
  • HNPP 3
  • DSS 3

External Ids for PMP22 Gene

Previous GeneCards Identifiers for PMP22 Gene

  • GC17M015499
  • GC17M016248
  • GC17M015076
  • GC17M015333
  • GC17M015073

Summaries for PMP22 Gene

Entrez Gene Summary for PMP22 Gene

  • This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for PMP22 Gene

PMP22 (Peripheral Myelin Protein 22) is a Protein Coding gene. Diseases associated with PMP22 include Neuropathy, Recurrent, With Pressure Palsies and Charcot-Marie-Tooth Disease, Type 1A. Among its related pathways are a6b1 and a6b4 Integrin signaling and Neural Crest Differentiation. An important paralog of this gene is EMP3.

UniProtKB/Swiss-Prot for PMP22 Gene

  • Might be involved in growth regulation, and in myelinization in the peripheral nervous system.

Gene Wiki entry for PMP22 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMP22 Gene

Genomics for PMP22 Gene

Regulatory Elements for PMP22 Gene

Enhancers for PMP22 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PMP22 on UCSC Golden Path with GeneCards custom track

Promoters for PMP22 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PMP22 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PMP22 gene promoter:

Genomic Location for PMP22 Gene

15,229,777 bp from pter
15,265,357 bp from pter
35,581 bases
Minus strand

Genomic View for PMP22 Gene

Genes around PMP22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMP22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMP22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMP22 Gene

Proteins for PMP22 Gene

  • Protein details for PMP22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Peripheral myelin protein 22
    Protein Accession:
    Secondary Accessions:
    • Q8WV01

    Protein attributes for PMP22 Gene

    160 amino acids
    Molecular mass:
    17891 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PMP22 Gene

Proteomics data for PMP22 Gene at MOPED

Post-translational modifications for PMP22 Gene

  • Glycosylation at Asn 41
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for PMP22 Gene

Domains & Families for PMP22 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PMP-22/EMP/MP20 family.
  • Belongs to the PMP-22/EMP/MP20 family.
genes like me logo Genes that share domains with PMP22: view

No data available for Gene Families for PMP22 Gene

Function for PMP22 Gene

Molecular function for PMP22 Gene

GENATLAS Biochemistry:
growth arrest specific gene 3,expressed in Schwann cells of the peripheral myelin protein and in cochlea,involved in formation and maintenance of compacting myelin,homologous to Pmp-22 peripheral myelin protein,mutated in trembler mouse,involved in normal axonal cytoskeletal organization
UniProtKB/Swiss-Prot Function:
Might be involved in growth regulation, and in myelinization in the peripheral nervous system.
genes like me logo Genes that share phenotypes with PMP22: view

Human Phenotype Ontology for PMP22 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PMP22 Gene

MGI Knock Outs for PMP22:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PMP22 Gene

Localization for PMP22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMP22 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for PMP22 Gene COMPARTMENTS Subcellular localization image for PMP22 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
endoplasmic reticulum 2
extracellular 1
lysosome 1
mitochondrion 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for PMP22 Gene

Pathways & Interactions for PMP22 Gene

genes like me logo Genes that share pathways with PMP22: view

Pathways by source for PMP22 Gene

2 BioSystems pathways for PMP22 Gene

Gene Ontology (GO) - Biological Process for PMP22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008285 negative regulation of cell proliferation IEA --
GO:0032060 bleb assembly IDA 12107182
GO:0042552 myelination IEA --
genes like me logo Genes that share ontologies with PMP22: view

No data available for SIGNOR curated interactions for PMP22 Gene

Drugs & Compounds for PMP22 Gene

(9) Drugs for PMP22 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(9) Additional Compounds for PMP22 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PMP22: view

Transcripts for PMP22 Gene

Unigene Clusters for PMP22 Gene

Peripheral myelin protein 22:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PMP22 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d
SP1: - - - - - - -
SP2: - - - - -
SP3: - -
SP4: - - -
SP5: - - -
SP6: - - - - - - - - -

Relevant External Links for PMP22 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PMP22 Gene

mRNA expression in normal human tissues for PMP22 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PMP22 Gene

This gene is overexpressed in Nerve - Tibial (x11.0).

SOURCE GeneReport for Unigene cluster for PMP22 Gene Hs.372031

genes like me logo Genes that share expression patterns with PMP22: view

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for PMP22 Gene

Orthologs for PMP22 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PMP22 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PMP22 35
  • 89.45 (n)
  • 92.09 (a)
PMP22 36
  • 93 (a)
(Canis familiaris)
Mammalia PMP22 35
  • 90.65 (n)
  • 92.81 (a)
PMP22 36
  • 93 (a)
(Mus musculus)
Mammalia Pmp22 35
  • 88.01 (n)
  • 87.05 (a)
Pmp22 16
Pmp22 36
  • 86 (a)
(Pan troglodytes)
Mammalia PMP22 35
  • 100 (n)
  • 100 (a)
PMP22 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Pmp22 35
  • 84.89 (n)
  • 87.05 (a)
(Monodelphis domestica)
Mammalia PMP22 36
  • 86 (a)
(Gallus gallus)
Aves PMP22 35
  • 78.26 (n)
  • 78.26 (a)
PMP22 36
  • 78 (a)
(Anolis carolinensis)
Reptilia PMP22 36
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pmp22 35
  • 71.98 (n)
  • 76.09 (a)
Str.11149 35
African clawed frog
(Xenopus laevis)
Amphibia pmp22-prov 35
(Danio rerio)
Actinopterygii pmp22 35
pmp22b 35
  • 66.92 (n)
  • 64.93 (a)
pmp22a 36
  • 52 (a)
pmp22b 36
  • 68 (a)
Species with no ortholog for PMP22:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PMP22 Gene

Gene Tree for PMP22 (if available)
Gene Tree for PMP22 (if available)

Paralogs for PMP22 Gene

Paralogs for PMP22 Gene

(3) SIMAP similar genes for PMP22 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with PMP22: view

Variants for PMP22 Gene

Sequence variations from dbSNP and Humsavar for PMP22 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_006359 Dejerine-Sottas syndrome (DSS)
VAR_006360 Charcot-Marie-Tooth disease 1A (CMT1A)
VAR_006360 Dejerine-Sottas syndrome (DSS)
VAR_006361 Dejerine-Sottas syndrome (DSS)
VAR_006362 Dejerine-Sottas syndrome (DSS)

Structural Variations from Database of Genomic Variants (DGV) for PMP22 Gene

Variant ID Type Subtype PubMed ID
nsv1991 CNV Insertion 18451855

Variation tolerance for PMP22 Gene

Residual Variation Intolerance Score: 80.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.71; 57.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PMP22 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMP22 Gene

Disorders for PMP22 Gene

MalaCards: The human disease database

(57) MalaCards diseases for PMP22 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neuropathy, recurrent, with pressure palsies
  • hereditary motor and sensory neuropathy
charcot-marie-tooth disease, type 1a
  • charcot-marie-tooth disease type 1a
dejerine-sottas disease
  • dss
charcot-marie-tooth disease, type 1e
  • charcot-marie-tooth disease type 1
roussy-levy syndrome
  • charcot-marie-tooth disease
- elite association - COSMIC cancer census association via MalaCards
Search PMP22 in MalaCards View complete list of genes associated with diseases


  • Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. {ECO:0000269 PubMed:10489052, ECO:0000269 PubMed:10737979, ECO:0000269 PubMed:11140841, ECO:0000269 PubMed:11835375, ECO:0000269 PubMed:12402337, ECO:0000269 PubMed:12497641, ECO:0000269 PubMed:1303281, ECO:0000269 PubMed:15205993, ECO:0000269 PubMed:8252046, ECO:0000269 PubMed:8510709, ECO:0000269 PubMed:8615087, ECO:0000269 PubMed:8655153, ECO:0000269 PubMed:8777804, ECO:0000269 PubMed:9040744}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 1E (CMT1E) [MIM:118300]: An autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy. {ECO:0000269 PubMed:10330345, ECO:0000269 PubMed:11835375, ECO:0000269 PubMed:12578939, ECO:0000269 PubMed:15099592}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. {ECO:0000269 PubMed:10211478, ECO:0000269 PubMed:10663978, ECO:0000269 PubMed:11438991, ECO:0000269 PubMed:12090401, ECO:0000269 PubMed:7675244, ECO:0000269 PubMed:7728152, ECO:0000269 PubMed:8252046, ECO:0000269 PubMed:8275092, ECO:0000269 PubMed:8995589, ECO:0000269 PubMed:9004143, ECO:0000269 PubMed:9055797, ECO:0000269 PubMed:9187667, ECO:0000269 PubMed:9452053, ECO:0000269 PubMed:9544841, ECO:0000269 PubMed:9585367, ECO:0000269 PubMed:9633821}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]: A neurologic disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas. {ECO:0000269 PubMed:12796555, ECO:0000269 PubMed:9748013}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Inflammatory demyelinating polyneuropathy (IDP) [MIM:139393]: Putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome. {ECO:0000269 PubMed:12439896}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Relevant External Links for PMP22

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PMP22: view

No data available for Genatlas for PMP22 Gene

Publications for PMP22 Gene

  1. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. (PMID: 8510709) Roa B.B. … Lupski J.R. (N. Engl. J. Med. 1993) 3 4 23 48 67
  2. Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. (PMID: 19888301) Weterman M.A. … Baas F. (Eur. J. Hum. Genet. 2010) 3 23
  3. Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment. (PMID: 20453308) KabziA8ska D. … KochaA8ski A. (J. Appl. Genet. 2010) 3 23
  4. PMP22 expression in dermal nerve myelin from patients with CMT1A. (PMID: 19447823) Katona I. … Li J. (Brain 2009) 3 23
  5. Varying survival of motoneurons and activation of distinct molecular mechanism in response to altered peripheral myelin protein 22 gene dosage. (PMID: 19493167) NattkAomper H. … Young P. (J. Neurochem. 2009) 3 23

Products for PMP22 Gene

Sources for PMP22 Gene