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Pmp22 Gene Detail
Summary
  • Symbol
    Pmp22
  • Name
    peripheral myelin protein 22
  • Synonyms
    Gas-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:97631
    NCBI Gene: 18858
  • Gene Overview
    MyGene.info: PMP22
Location & Maps
more
  • Sequence Map
    Chr11:63128982-63159547 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      30566 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 38.99 cM
  • Mapping Data
    31 experiments
Homology
more
  • Human Ortholog
    PMP22, peripheral myelin protein 22
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PMP22, peripheral myelin protein 22
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMT1A, CMT1E, DSS, GAS3, GAS-3, HMSNIA, HNPP, Sp110
  • Links
    NCBI Gene ID: 5376
    neXtProt AC: NX_Q01453

  • Chr Location
    17p12; chr17:15229777-15265357 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    5 with Pmp22 mouse models; 6 with human PMP22 associations

Human Disease Mouse Models
       Charcot-Marie-Tooth Disease and Deafness   OMIM: 118300 View 1 model
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; CMT1A   OMIM: 118220 View 8 models
Hypertrophic Neuropathy of Dejerine-Sottas   OMIM: 145900 View 1 model
Neuropathy, Hereditary, with Liability to Pressure Palsies; HNPP   OMIM: 162500 View 3 models
Roussy-Levy Hereditary Areflexic Dystasia   OMIM: 180800 View 1 model
       Guillain-Barre Syndrome, Familial; GBS   OMIM: 139393
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    12 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    52 phenotypes from 13 alleles in 14 genetic backgrounds
    17 phenotypes from multigenic genotypes
    108 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    19
  • Chemically induced (ENU)
    4
  • Chemically induced (other)
    1
  • Spontaneous
    4
  • Targeted
    4
  • Transgenic
    6
  • Genomic Mutations
    1 involving Pmp22
  • Incidental Mutations
    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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    15
  • GO References
    5
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    45
  • Tissues
    39
  • cDNA Data
    67
  • Literature Summary
    11
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005884 VEGA Gene Model | MGI Sequence Detail 30566 C57BL/6J ±  kb
transcript OTTMUST00000013105 VEGA | MGI Sequence Detail 733 Not Applicable  
polypeptide OTTMUSP00000006084 VEGA | MGI Sequence Detail 160 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    245 from dbSNP Build 142
  • PCR
    4
  • RFLP
    3
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000012910 peripheral myelin protein 22
  • InterPro Domains
    IPR003936 Peripheral myelin protein PMP22
    IPR004032 PMP-22/EMP/MP20
    IPR004031 PMP-22/EMP/MP20/Claudin superfamily
Molecular
Reagents
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  • All nucleic 79
    Genomic 4
    cDNA 67
    Primer pair 6
    Other 2

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-13371, MGD-MRK-15215, MGD-MRK-9988
References
more
  • Summaries
    All 178
    Developmental Gene Expression 11
    Diseases 12
    Gene Ontology 5
    Phenotypes 108
  • 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:227754 Fledrich R, et al., Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A. Nat Med. 2014 Sep;20(9):1055-61
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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Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory