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Pmp2 Gene Detail
Summary
  • Symbol
    Pmp2
  • Name
    peripheral myelin protein 2
  • Synonyms
    P2
  • Feature Type
    protein coding gene
  • IDs
    MGI:102667
    NCBI Gene: 18857
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:10244911-10248945 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 2.54 cM
Strain
Comparison
more
  • SNPs within 2kb
    56 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102667
 protein coding gene Chr3:10244911-10248989 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027060
 protein coding gene Chr3:7145580-7149657 (-)
A/J MGP_AJ_G0027024
 protein coding gene Chr3:7304542-7308620 (-)
AKR/J MGP_AKRJ_G0026994
 protein coding gene Chr3:7206023-7210100 (-)
BALB/cJ MGP_BALBcJ_G0027033
 protein coding gene Chr3:7002204-7006282 (-)
C3H/HeJ MGP_C3HHeJ_G0026773
 protein coding gene Chr3:7511698-7515776 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027477
 protein coding gene Chr3:7782542-7786620 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024839
 protein coding gene Chr3:6186041-6190128 (-)
CAST/EiJ MGP_CASTEiJ_G0026231
 protein coding gene Chr3:7534651-7538711 (-)
CBA/J MGP_CBAJ_G0026751
 protein coding gene Chr3:7790988-7795066 (-)
DBA/2J MGP_DBA2J_G0026887
 protein coding gene Chr3:6868936-6873014 (-)
FVB/NJ MGP_FVBNJ_G0026854
 protein coding gene Chr3:6797476-6801553 (-)
LP/J MGP_LPJ_G0026997
 protein coding gene Chr3:7667738-7671815 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026875
 protein coding gene Chr3:8818158-8822236 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027537
 protein coding gene Chr3:7067212-7071290 (-)
PWK/PhJ MGP_PWKPhJ_G0025966
 protein coding gene Chr3:7097235-7101282 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025769
 protein coding gene Chr3:7209184-7213215 (-)
WSB/EiJ MGP_WSBEiJ_G0026302
 protein coding gene Chr3:7096951-7101038 (-)



Homology
more
  • Human Ortholog
    PMP2, peripheral myelin protein 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PMP2, peripheral myelin protein 2
  • Synonyms
    CMT1G, FABP8, M-FABP, MP2, P2
  • Links
    NCBI Gene ID: 5375
    neXtProt AC: NX_P02689
    UniProt: P02689

  • Chr Location
    8q21.13; chr8:81440326-81447439 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PMP2 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    4 phenotypes from multigenic genotypes
    6 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.
Mice homozygous for a knock-out allele exhibit a temporary reduction in motor nerve conduction velocity and transitory alterations in the lipid profile of peripheral myelin but no major defects in general PNS myelin structure.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • GO References
    5
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    706
  • cDNA Data
    3
  • Literature Summary
    2
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 18857 NCBI Gene Model | MGI Sequence Detail 4035 C57BL/6J ±  kb
transcript NM_001030305 RefSeq | MGI Sequence Detail 1364 ZRU/MplStud  
polypeptide P24526 UniProt | EBI | MGI Sequence Detail 132 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 6
    Genomic 2
    cDNA 4

    Microarray probesets 2
Other
Accession IDs
less
MGD-MRK-19568
References
more
  • Summaries
    All 26
    Developmental Gene Expression 2
    Gene Ontology 5
    Phenotypes 6
  • Earliest
    J:11254 Narayanan V, et al., Structure of the mouse myelin P2 protein gene. J Neurochem. 1991 Jul;57(1):75-80
  • Latest
    J:345924 Hong J, et al., PMP2 regulates myelin thickening and ATP production during remyelination. Glia. 2024 Feb 5;
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory