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Aliases for PMP22 Gene

Aliases for PMP22 Gene

  • Peripheral Myelin Protein 22 2 3 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
  • CMT1A 3
  • CMT1E 3
  • Sp110 3
  • CIDP 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 Charcot-Marie-Tooth Disease And Deafness and Charcot-Marie-Tooth Disease, Demyelinating, Type 1A. Among its related pathways are a6b1 and a6b4 Integrin signaling and Neural Crest Differentiation. An important paralog of this gene is EMP2.

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

Additional gene information for PMP22 Gene

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

Genomics for PMP22 Gene

GeneHancer (GH) Regulatory Elements for PMP22 Gene

Promoters and enhancers for PMP22 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J015259 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 +3.6 3564 4.7 ATF1 SIN3A ZNF2 YY1 ZNF121 GLIS2 ZNF143 ZFP91 KLF7 SP3 ENSG00000279660 ENSG00000265445 PMP22 PIGL PPIAP53 CDRT4 TEKT3 GC17M015257 GC17M015255
GH17J015265 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.2 246 1.1 SCRT2 ZFP91 GC17M015255 GC17M015257 PMP22 TEKT3 ENSG00000265445
GH17J015264 Enhancer 0.5 ENCODE dbSUPER 650.7 +0.8 810 0 SCRT2 GC17M015257 PMP22 ENSG00000265445 GC17M015255
GH17J015266 Enhancer 0.4 FANTOM5 dbSUPER 650.7 -1.4 -1449 0.1 GC17M015255 GC17M015257 PMP22
GH17J015490 Enhancer 1.4 FANTOM5 Ensembl ENCODE 14.1 -225.9 -225930 2.3 ATF1 TCF12 CBX5 GATA2 FOS ATF7 NCOA1 ZNF592 SMARCA4 GLIS1 GC17M015492 PIR44743 CDRT4 PMP22 ENSG00000230971 ENSG00000237377 TVP23C CDRT1 PIR38416 TVP23C-CDRT4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PMP22 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PMP22 gene promoter:
  • AP-1
  • p53

Genomic Locations for PMP22 Gene

Genomic Locations for PMP22 Gene
35,581 bases
Minus strand
35,550 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

Post-translational modifications for PMP22 Gene

  • Glycosylation at Asn41
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PMP22 Gene

Domains & Families for PMP22 Gene

Gene Families for PMP22 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

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

Function for PMP22 Gene

Molecular function for PMP22 Gene

UniProtKB/Swiss-Prot Function:
Might be involved in growth regulation, and in myelinization in the peripheral nervous system.
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

Phenotypes From GWAS Catalog for PMP22 Gene

Gene Ontology (GO) - Molecular Function for PMP22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12107182
genes like me logo Genes that share ontologies with PMP22: view
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PMP22 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PMP22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,IEA 12107182
GO:0005923 bicellular tight junction IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043218 compact myelin IEA --
genes like me logo Genes that share ontologies with PMP22: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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:0007268 chemical synaptic transmission TAS 8275092
GO:0007422 peripheral nervous system development TAS 8275092
GO:0008219 cell death IDA 12107182
GO:0008285 negative regulation of cell proliferation IEA --
GO:0010977 negative regulation of neuron projection development 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

mRNA/cDNA for PMP22 Gene

Unigene Clusters for PMP22 Gene

Peripheral myelin protein 22:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of PMP22 Gene:


SOURCE GeneReport for Unigene cluster for PMP22 Gene:


Evidence on tissue expression from TISSUES for PMP22 Gene

  • Nervous system(4.9)
  • Blood(4.2)
  • Kidney(4.2)
  • Muscle(3)
  • Skin(2.9)
  • Lung(2.2)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PMP22 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • head
  • larynx
  • meninges
  • neck
  • vocal cord
  • lung
  • rib
  • rib cage
  • pelvis
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PMP22: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
(Pan troglodytes)
Mammalia PMP22 34 33
  • 100 (n)
(Canis familiaris)
Mammalia PMP22 34 33
  • 90.65 (n)
(Bos Taurus)
Mammalia PMP22 34 33
  • 89.45 (n)
(Mus musculus)
Mammalia Pmp22 16 34 33
  • 88.01 (n)
(Monodelphis domestica)
Mammalia PMP22 34
  • 86 (a)
(Rattus norvegicus)
Mammalia Pmp22 33
  • 84.89 (n)
(Gallus gallus)
Aves PMP22 34 33
  • 78.26 (n)
(Anolis carolinensis)
Reptilia PMP22 34
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pmp22 33
  • 71.98 (n)
Str.11149 33
African clawed frog
(Xenopus laevis)
Amphibia pmp22-prov 33
(Danio rerio)
Actinopterygii pmp22b 34 33
  • 66.92 (n)
pmp22a 34
  • 52 (a)
pmp22 33
Species where no ortholog for PMP22 was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for PMP22: view image

Paralogs for PMP22 Gene

Paralogs for PMP22 Gene

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

  • A8MU75_HUMAN
  • J3KT36_HUMAN
  • J3QS08_HUMAN
  • Q6FH25_HUMAN
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 Variation AA Info Type
rs1022583382 uncertain-significance, Charcot-Marie-Tooth disease, type I 15,230,922(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs104894617 pathogenic, Charcot-Marie-Tooth disease, type IA, Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220], Dejerine-Sottas syndrome (DSS) [MIM:145900] 15,260,681(-) A/G coding_sequence_variant, intron_variant, missense_variant
rs104894618 pathogenic, Charcot-Marie-Tooth disease, type IA, Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220] 15,239,554(-) G/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104894619 pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, Charcot-Marie-Tooth disease, type 1a, autosomal recessive, Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type IA, not specified, Charcot-Marie-Tooth disease, type I, not provided, Charcot-Marie-Tooth, Type 1, Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220] 15,231,047(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs104894620 pathogenic, Dejerine-Sottas syndrome, autosomal dominant, not provided, Dejerine-Sottas syndrome (DSS) [MIM:145900] 15,239,584(-) A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv3640062 CNV loss 21293372
esv3640064 CNV loss 21293372
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)

Additional Variant Information for PMP22 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for PMP22 Gene

MalaCards: The human disease database

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

- 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.
  • 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:15205993, ECO:0000269 PubMed:9748013}. 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.
  • 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.

Additional Disease Information for PMP22

Genetic Association Database
Human Genome Epidemiology 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 BB … Lupski JR (The New England journal of medicine 1993) 3 4 22 44 58
  2. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PMID: 11835375) Boerkoel CF … Lupski JR (Annals of neurology 2002) 3 4 44 58
  3. Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. (PMID: 12402337) Numakura C … Hayasaka K (Human mutation 2002) 3 4 22 58
  4. Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1. (PMID: 10632107) Numakura C … Hayasaka K (Annals of neurology 2000) 3 4 22 58
  5. Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. (PMID: 10489052) Fabrizi GM … Rizzuto N (Neurology 1999) 3 4 22 58

Products for PMP22 Gene

Sources for PMP22 Gene

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