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Pxmp2 Gene Detail
Summary
  • Symbol
    Pxmp2
  • Name
    peroxisomal membrane protein 2
  • Synonyms
    22kDa, PMP22
  • Feature Type
    protein coding gene
  • IDs
    MGI:107487
    NCBI Gene: 19301
Location & Maps
more
  • Sequence Map
    Chr5:110274282-110286186 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      11905 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PXMP2, peroxisomal membrane protein 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PXMP2, peroxisomal membrane protein 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    PMP22
  • Links
    NCBI Gene ID: 5827
    neXtProt AC: NX_Q9NR77

  • Chr Location
    12q24.33; chr12:132687606-132704991 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (other)
    1
  • Gene trapped
    3
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving Pxmp2
  • Incidental Mutations
Mice homozygous for a null mutation display impaired lactation, increased serum urate levels, elevated urinary clearence of urate, and abnormal liver peroxisomal membrane permeability.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026216 VEGA Gene Model | MGI Sequence Detail 11905 C57BL/6J ±  kb
transcript OTTMUST00000064832 VEGA | MGI Sequence Detail 1041 Not Applicable  
polypeptide OTTMUSP00000032236 VEGA | MGI Sequence Detail 193 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    128 from dbSNP Build 137
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000013509 peroxisomal membrane protein 2
  • InterPro Domains
    IPR007248 Mpv17/PMP22
Molecular
Reagents
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  • All nucleic 33
    cDNA 32
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-36055
References
more
  • Summaries
    All 31
    Gene Ontology 5
    Phenotypes 11
  • Earliest
    J:27776 Bryant DD, et al., Differential evolution and expression of murine peroxisomal membrane protein genes. Biochem Mol Med. 1995 Jun;55(1):22-30
  • Latest
    J:213750 Vapola MH, et al., Peroxisomal membrane channel Pxmp2 in the mammary fat pad is essential for stromal lipid homeostasis and for development of mammary gland epithelium in mice. Dev Biol. 2014 Jul 1;391(1):66-80

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory