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Aliases for PMP22 Gene

Aliases for PMP22 Gene

  • Peripheral Myelin Protein 22 2 3
  • Growth Arrest-Specific Protein 3 3 4
  • GAS-3 3 4
  • Peripheral Myelin Protein 22 KDa 3
  • HMSNIA 3
  • PMP-22 4
  • CMT1A 3
  • CMT1E 3
  • Sp110 3
  • HNPP 3
  • GAS3 4
  • 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, type 1a and hereditary neuropathy with liability to pressure palsy. Among its related pathways are Neural Crest Differentiation and a6b1 and a6b4 Integrin signaling. 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

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PMP22 Gene

Chromosome:
17
Start:
15,229,777 bp from pter
End:
15,265,357 bp from pter
Size:
35,581 bases
Orientation:
Minus strand

Genomic View for PMP22 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

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

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

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

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

Animal Models for PMP22 Gene

MGI Knock Outs for PMP22:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PMP22

In Situ Assay Products

Flow Cytometry 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
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
vacuole 1

Gene Ontology (GO) - Cellular Components for PMP22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 12107182
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PMP22: view

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PMP22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 synaptic transmission TAS 8275092
GO:0007422 peripheral nervous system development TAS 8275092
GO:0008219 cell death IDA 12107182
GO:0032060 bleb assembly IDA 12107182
GO:0032288 myelin assembly 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
Progesterone Approved Pharma Inhibition, Pore Blocker Endogenous progesterone receptor agonist 473
Vitamin C Approved Nutra 398,398
Dihydrotestosterone Experimental, Illicit Pharma Agonist 13
Forskolin Experimental Pharma 0
Guanine Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
aspartate
BamHi
dihydroprogesterone
gaba
56-12-2
Ganglioside
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PMP22

Flow Cytometry 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
ECgene alternative splicing isoforms for
PMP22

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

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia PMP22 35
  • 89.45 (n)
  • 92.09 (a)
PMP22 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PMP22 35
  • 90.65 (n)
  • 92.81 (a)
PMP22 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pmp22 35
  • 88.01 (n)
  • 87.05 (a)
Pmp22 16
Pmp22 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PMP22 35
  • 100 (n)
  • 100 (a)
PMP22 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pmp22 35
  • 84.89 (n)
  • 87.05 (a)
oppossum
(Monodelphis domestica)
Mammalia PMP22 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves PMP22 35
  • 78.26 (n)
  • 78.26 (a)
PMP22 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PMP22 36
  • 79 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii pmp22 35
pmp22b 35
  • 66.92 (n)
  • 64.93 (a)
pmp22a 36
  • 52 (a)
OneToMany
pmp22b 36
  • 68 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PMP22 (if available)
TreeFam:
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 MAF
rs7415 -- 15,229,806(-) AAGAT(G/T)CATTA utr-variant-3-prime, nc-transcript-variant
rs7538 -- 15,230,340(-) GCCCT(C/T)GCAAA utr-variant-3-prime, nc-transcript-variant
rs13027 -- 15,230,089(-) AGCTA(A/G)GCTGC utr-variant-3-prime, nc-transcript-variant
rs13422 -- 15,230,858(-) GGAAA(A/C)CAGAA utr-variant-3-prime, nc-transcript-variant
rs16418 -- 15,230,391(-) GAACC(-/T)CTGTG utr-variant-3-prime, nc-transcript-variant

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: 80.62% 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

HapMap Linkage Disequilibrium report
PMP22
Human Gene Mutation Database (HGMD)
PMP22

PCR Panel Products

  • Copy Number PCR Panels: for PMP22

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

Disorders for PMP22 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 1a
  • charcot-marie-tooth disease type 1a
hereditary neuropathy with liability to pressure palsy
  • hnpp
guillain-barre syndrome
  • acute infective polyneuritis
nerve compression syndrome
  • peripheral nerve entrapment syndrome
charcot-marie-tooth neuropathy type 1
  • dejerine-sottas syndrome
- elite association
Search PMP22 in MalaCards View complete list of genes associated with diseases

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.
  • 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)
PMP22
Human Genome Epidemiology (HuGE) Navigator
PMP22
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PMP22
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 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) 23 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) 23 67
  3. PMP22 expression in dermal nerve myelin from patients with CMT1A. (PMID: 19447823) Katona I. … Li J. (Brain 2009) 23 67
  4. Functional and comparative genomics analyses of pmp22 in medaka fish. (PMID: 19534778) Itou J. … Kawasaki T. (BMC Neurosci 2009) 23 67
  5. Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients. (PMID: 19691535) Keckarevic-Markovic M. … Romac S. (J. Peripher. Nerv. Syst. 2009) 23 67

Products for PMP22 Gene

Sources for PMP22 Gene

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