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Pmp22 Gene Detail
Summary
  • Symbol
    Pmp22
  • Name
    peripheral myelin protein 22
  • Synonyms
    Gas-3, TRE002
  • Feature Type
    protein coding gene
  • IDs
    MGI:97631
    NCBI Gene: 18858
  • Gene Overview
    MyGene.info: PMP22
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:63128982-63159547 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 38.99 cM
  • Mapping Data
    31 experiments
Strain
Comparison
more
  • SNPs within 2kb
    245 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    4
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97631
 protein coding gene Chr11:63128982-63159547 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018468
 protein coding gene Chr11:63227683-63258280 (+)
A/J MGP_AJ_G0018437
 protein coding gene Chr11:60881456-60911955 (+)
AKR/J MGP_AKRJ_G0018406
 protein coding gene Chr11:62759113-62789726 (+)
BALB/cJ MGP_BALBcJ_G0018408
 protein coding gene Chr11:61153560-61184125 (+)
C3H/HeJ MGP_C3HHeJ_G0018221
 protein coding gene Chr11:62729032-62761112 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018860
 protein coding gene Chr11:65201465-65232013 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016504
 protein coding gene Chr11:57951958-57982042 (+)
CAST/EiJ MGP_CASTEiJ_G0017777
 protein coding gene Chr11:62888805-62920362 (+)
CBA/J MGP_CBAJ_G0018195
 protein coding gene Chr11:68014488-68045625 (+)
DBA/2J MGP_DBA2J_G0018304
 protein coding gene Chr11:60432522-60463134 (+)
FVB/NJ MGP_FVBNJ_G0018294
 protein coding gene Chr11:60098730-60129260 (+)
LP/J MGP_LPJ_G0018376
 protein coding gene Chr11:63763393-63793979 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018318
 protein coding gene Chr11:68980487-69011043 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018901
 protein coding gene Chr11:62916107-62949963 (+)
PWK/PhJ MGP_PWKPhJ_G0017551
 protein coding gene Chr11:61055626-61082756 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017341
 protein coding gene Chr11:62758163-62786721 (+)
WSB/EiJ MGP_WSBEiJ_G0017830
 protein coding gene Chr11:62530287-62560815 (+)



Homology
more
  • Human Ortholog
    PMP22, peripheral myelin protein 22
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PMP22, peripheral myelin protein 22
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CIDP, CMT1A, CMT1E, DSS, GAS3, GAS-3, HMSNIA, HNPP, Sp110
  • Links
    NCBI Gene ID: 5376
    neXtProt AC: NX_Q01453
    UniProt: Q01453

  • Chr Location
    17p12; chr17:15229777-15265357 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    4 with Pmp22 mouse models; 5 with human PMP22 associations

Human Disease Mouse Models
      
IDs
 View 9 models
IDs
 View 1 model
IDs
 View 1 model
IDs
 View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    10 with disease annotations
  • References
    12 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    53 phenotypes from 14 alleles in 15 genetic backgrounds
    23 phenotypes from multigenic genotypes
    116 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    105
  • GO References
    31
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
    68
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18858 NCBI Gene Model | MGI Sequence Detail 30566 C57BL/6J ±  kb
    transcript NM_001302260 RefSeq | MGI Sequence Detail 1866 C57BL/6  
    polypeptide P16646 UniProt | EBI | MGI Sequence Detail 161 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • InterPro Domains
      IPR003936 Peripheral myelin protein PMP22
      IPR004032 PMP-22/EMP/MP20
      IPR004031 PMP-22/EMP/MP20/Claudin superfamily
    Molecular
    Reagents
    less
    • All nucleic 80
      Genomic 4
      cDNA 68
      Primer pair 6
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13371, MGD-MRK-15215, MGD-MRK-9988, MGI:5426059
    References
    more
    • Summaries
      All 209
      Developmental Gene Expression 14
      Diseases 12
      Gene Ontology 31
      Phenotypes 116
    • 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:266312 Fledrich R, et al., Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy. Nat Commun. 2018 Aug 2;9(1):3025
    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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    01/15/2019
    MGI 6.13     		The Jackson Laboratory