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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
  • CMT1E 3 6
  • CMT1A 3 6
  • GAS-3 3 4
  • DSS 3 6
  • HMSNIA 3
  • PMP-22 4
  • Sp110 3
  • HNPP 3
  • GAS3 4

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 guillain-barre syndrome and nerve compression syndrome. 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

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 Asn41
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for PMP22 Gene

Domains for PMP22 Gene

Graphical View of Domain Structure for InterPro Entry

Q01453

UniProtKB/Swiss-Prot:

PMP22_HUMAN :
  • Q01453
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

miRNA for PMP22 Gene

miRTarBase miRNAs that target PMP22

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 Targeting 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

Gene Ontology (GO) - Cellular Components for PMP22 Gene

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

Pathways 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: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

Compounds for PMP22 Gene

(18) Novoseek inferred chemical compound relationships for PMP22 Gene

Compound -log(P) Hits PubMed IDs
dihydroprogesterone 64 4
tetradecylthioacetic acid 48 2
progesterone 23 17
bamhi 21.9 2
ascorbic acid 17.3 6
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

Primer Products

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 (11.0).

SOURCE GeneReport for Unigene cluster for PMP22 Gene Hs.372031

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

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and 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

Selected 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

Relevant External Links for PMP22 Gene

HapMap Linkage Disequilibrium report
PMP22
Human Gene Mutation Database (HGMD)
PMP22
Locus Specific Mutation Databases (LSDB)
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

(6) OMIM Diseases for PMP22 Gene (601097)

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: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.

(4) University of Copenhagen DISEASES for PMP22 Gene

(52) Novoseek inferred disease relationships for PMP22 Gene

Disease -log(P) Hits PubMed IDs
charcot-marie-tooth disease 98.2 124
hereditary neuropathy 98.1 102
dejerine-sottas disease 96.1 44
hereditary peripheral neuropathy 92.8 5
charcot-marie-tooth neuropathy, type 1a 92.7 15

Relevant External Links for PMP22

GeneTests
PMP22
GeneReviews
PMP22
Genetic Association Database (GAD)
PMP22
Human Genome Epidemiology (HuGE) Navigator
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. Dejerine-Sottas neuropathy is associated with a de novo PMP22 mutation. (PMID: 7728152) Valentijn L.J. … Nicholson G.A. (Hum. Mutat. 1995) 3 4 23 48
  2. 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
  3. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PMID: 11835375) Boerkoel C.F. … Lupski J.R. (Ann. Neurol. 2002) 3 4 23 48
  4. A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness. (PMID: 15099592) Joo I.S. … Kim J.W. (Neuromuscul. Disord. 2004) 3 4 23
  5. A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. (PMID: 15205993) Kleopa K.A. … Christodoulou K. (Neurogenetics 2004) 3 4 23

Products for PMP22 Gene

Sources for PMP22 Gene

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