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Pmp22
Gene Detail
Symbol

Name
ID
Pmp22
peripheral myelin protein 22
MGI:97631
Synonyms
Gas-3
Feature Type
protein coding gene
Genetic Map
Chromosome 11
38.99 cM
Detailed Genetic Map ± 1 cM


Mapping data(31)
Sequence Map
Chr11:63128982-63159547 bp, + strand
From VEGA annotation of GRCm38

  30566 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7482  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PMP22
Protein SuperFamily: peripheral myelin protein 22/epithelial membrane protein
Gene Tree: Pmp22

Human
homologs
PMP22, peripheral myelin protein 22
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 5376
neXtProt AC: NX_Q01453

Human Synonyms: CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, Sp110

Human Chr (Location): 17p12; chr17:15229777-15265357 (-)  GRCh38.p2

Disease Associations: (6) Diseases Associated with Human PMP22

Mutations,
alleles, and
phenotypes
All mutations/alleles(15) : Chemically induced (ENU)(4) Spontaneous(4) Targeted(4) Transgenic(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice with one or two copies of several mutations exhibit tremors, a tendency toward seizures, and partial paralysis associated with demyelination and loss of peripheral axons. Mutants have high juvenile mortality and males are often sterile.
 
Human Diseases Modeled in Mice Using Pmp22 (5)    Mutations Annotated to Human Diseases (7)   
Interactions
Pmp22 interacts with 255 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process bleb assembly, cell cycle, ...
Component bicellular tight junction, compact myelin, ...
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (45)    Tissues (39)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 38
Northern blot 7
cDNA source data(67)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase pmp22    NEW 
Molecular
reagents
All nucleic(79) Genomic(4) cDNA(67) Primer pair(6) Other(2)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000005884 (Evidence)
Ensembl Gene Model ENSMUSG00000018217 (Evidence)
Entrez Gene 18858 (Evidence)
UniGene 1237
DFCI TC1575712, TC1693828
DoTS DT.110524939, DT.533301, DT.94205085
NIA Mouse Gene Index U012749
Consensus CDS Project CCDS24837.1
International Mouse Phenotyping Consortium Status Pmp22
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005884 VEGA Gene Model | MGI Sequence Detail 30566 C57BL/6J ±  kb
transcript OTTMUST00000013102 VEGA | MGI Sequence Detail 1822 Not Applicable 
polypeptide OTTMUSP00000006082 VEGA | MGI Sequence Detail 160 Not Applicable 

For the selected sequences
All sequences(55) RefSeq(14) UniProt(2)
Polymorphisms
All PCR and RFLP(7) : PCR(4) RFLP(3) SNPs within 2kb(246 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003936 Peripheral myelin protein PMP22
InterPro IPR004032 PMP-22/EMP/MP20
InterPro IPR004031 PMP-22/EMP/MP20/Claudin
Protein Ontology PR:000012910 peripheral myelin protein 22
References
(Earliest) J:13038 Falconer DS, Two new mutants, "trembler" and "reeler," with neurological actions in the house mouse. J Genet. 1951;50:192-201
(Latest) J:218183 Lee S, et al., PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts. J Neurosci. 2014 Nov 26;34(48):16140-52
All references(180)
Disease annotation references (7)
Other
accession IDs
MGD-MRK-13371, MGD-MRK-15215, MGD-MRK-9988

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory