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 ... See more...

Aliases for PMP22 Gene

Aliases for PMP22 Gene

  • Peripheral Myelin Protein 22 2 3 4 5
  • Charcot-Marie-Tooth Neuropathy 1A (Greatly Reduced Nerve Conduction Velocity, Hereditary Motor Sensory Neuropathy Ia) 2 3
  • 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
  • CMT1E 3
  • Sp110 3
  • CMT1A 3
  • CIDP 3
  • HNPP 3
  • DSS 3

External Ids for PMP22 Gene

Previous HGNC Symbols for PMP22 Gene

  • CMT1A

Previous GeneCards Identifiers for PMP22 Gene

  • GC17M015499
  • GC17M016248
  • GC17M015076
  • GC17M015333
  • GC17M015073
  • GC17M015133

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 Neural Crest Differentiation and a6b1 and a6b4 Integrin signaling. An important paralog of this gene is EMP2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for PMP22 Gene

Genomics for PMP22 Gene

GeneHancer (GH) Regulatory Elements for PMP22 Gene

Promoters and enhancers for PMP22 Gene
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PMP22

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
chr17:15,229,777-15,265,357
(GRCh38/hg38)
Size:
35,581 bases
Orientation:
Minus strand
chr17:15,133,095-15,168,644
(GRCh37/hg19)
Size:
35,550 bases
Orientation:
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:
    Q01453-PMP22_HUMAN
    Recommended name:
    Peripheral myelin protein 22
    Protein Accession:
    Q01453
    Secondary Accessions:
    • Q8WV01

    Protein attributes for PMP22 Gene

    Size:
    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

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

Protein Domains for PMP22 Gene

Blocks:
  • PMP-22/EMP/MP20 family
  • Peripheral myelin protein PMP22 signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PMP22 Gene

GenScript: Design optimal peptide antigens:
  • Peripheral myelin protein 22, isoform CRA_a (D3DTS7_HUMAN)
  • Growth arrest-specific protein 3 (PMP22_HUMAN)
  • cDNA FLJ77074, highly similar to Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 2, mRNA (Q6FH25_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01453

UniProtKB/Swiss-Prot:

PMP22_HUMAN :
  • Belongs to the PMP-22/EMP/MP20 family.
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

CRISPR 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

COMPARTMENTS
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 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PMP22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA,IDA 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

SIGNOR curated interactions for PMP22 Gene

Activates:
Is activated by:

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

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

6 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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: - - - - - - - - -
SP7:

Relevant External Links for PMP22 Gene

GeneLoc Exon Structure for
PMP22

Expression for PMP22 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PMP22

SOURCE GeneReport for Unigene cluster for PMP22 Gene:

Hs.372031

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
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • head
  • larynx
  • meninges
  • neck
  • vocal cord
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia PMP22 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PMP22 31 30
  • 90.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PMP22 31 30
  • 89.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pmp22 17 31 30
  • 88.01 (n)
oppossum
(Monodelphis domestica)
Mammalia PMP22 31
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pmp22 30
  • 84.89 (n)
chicken
(Gallus gallus)
Aves PMP22 31 30
  • 78.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PMP22 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pmp22 30
  • 71.98 (n)
Str.11149 30
African clawed frog
(Xenopus laevis)
Amphibia pmp22-prov 30
zebrafish
(Danio rerio)
Actinopterygii pmp22b 31 30
  • 66.92 (n)
OneToMany
pmp22a 31
  • 52 (a)
OneToMany
pmp22 30
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

ENSEMBL:
Gene Tree for PMP22 (if available)
TreeFam:
Gene Tree for PMP22 (if available)
Aminode:
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:

  • PMP22_HUMAN
  • A8MU75_HUMAN
  • D3DTS7_HUMAN
  • J3KQW0_HUMAN
  • J3KT36_HUMAN
  • J3QS08_HUMAN
  • Q6FH25_HUMAN
genes like me logo Genes that share paralogs with PMP22: view

Variants for PMP22 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PMP22 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
637370 Uncertain Significance: Charcot-Marie-Tooth disease 15,231,064(-) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
637371 Uncertain Significance: Charcot-Marie-Tooth disease 15,259,195(-) T/C SPLICE_ACCEPTOR_VARIANT
637372 Uncertain Significance: Charcot-Marie-Tooth disease 15,239,562(-) GC/G FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
637373 Uncertain Significance: Charcot-Marie-Tooth disease 15,260,675(-) A/C MISSENSE_VARIANT
637374 Uncertain Significance: Charcot-Marie-Tooth disease 15,259,156(-) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for PMP22 Gene

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)
PMP22
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMP22

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

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

UniProtKB/Swiss-Prot

PMP22_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 41 54
  2. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. (PMID: 8252046) Roa BB … Lupski JR (Nature genetics 1993) 2 3 4 23 54
  3. 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 41 54
  4. 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 23 54
  5. 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 23 54

Products for PMP22 Gene

  • Boster Bio Antibodies for PMP22
  • Boster Bio ELISA Kits for PMP22
  • Signalway ELISA kits for PMP22
  • Signalway Proteins for PMP22

Sources for PMP22 Gene