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    Pmp22 peripheral myelin protein 22 [ Mus musculus (house mouse) ]

    Gene ID: 18858, updated on 29-Oct-2024

    Summary

    Official Symbol
    Pmp22provided by MGI
    Official Full Name
    peripheral myelin protein 22provided by MGI
    Primary source
    MGI:MGI:97631
    See related
    Ensembl:ENSMUSG00000018217 AllianceGenome:MGI:97631
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Tr; HNPP; Gas-3; PMP-22; TRE002; trembler
    Summary
    Enables cytoskeletal motor activity. Acts upstream of or within several processes, including nervous system development; regulation of apoptotic process; and regulation of gene expression. Located in several cellular components, including cell surface; compact myelin; and perinuclear region of cytoplasm. Part of integrin complex and laminin complex. Is expressed in several structures, including alimentary system; intraembryonic coelom; lung; musculoskeletal system; and nervous system. Used to study Charcot-Marie-Tooth disease type 1A; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease type 3; and hereditary neuropathy with liability to pressure palsies. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); Guillain-Barre syndrome; and hereditary neuropathy with liability to pressure palsies. Orthologous to human PMP22 (peripheral myelin protein 22). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in lung adult (RPKM 99.7), small intestine adult (RPKM 77.0) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Pmp22 in Genome Data Viewer
    Location:
    11 B3; 11 38.99 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (63019808..63050373)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (63128982..63159547)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 36874 Neighboring gene STARR-seq mESC enhancer starr_29723 Neighboring gene tektin 3 Neighboring gene predicted gene, 36926 Neighboring gene STARR-seq mESC enhancer starr_29724 Neighboring gene STARR-seq mESC enhancer starr_29725 Neighboring gene STARR-seq mESC enhancer starr_29726 Neighboring gene ubiquitin C pseudogene Neighboring gene predicted gene, 29851

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cytoskeletal motor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within Schwann cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within Schwann cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within Schwann cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within adult locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within adult walking behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within aggresome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within axon development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within basement membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bleb assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cellular lipid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cellular localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to heat IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to unfolded protein IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cholesterol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within fibroblast migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within gliogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lamellipodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mating IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within membrane raft organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within motor behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in myelin assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within myelin assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within myelination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in myelination ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within myelination in peripheral nervous system IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within myelination in peripheral nervous system IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of neuron projection development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neuromuscular junction development, skeletal muscle fiber IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuromuscular process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuronal action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuronal action potential propagation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuronal ion channel clustering IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within paranodal junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within peripheral nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within peripheral nervous system neuron axonogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within proteasomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within proteasome-mediated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of Schwann cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of glial cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to bacterium IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within striated muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within transmission of nerve impulse IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within transmission of nerve impulse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within vestibular reflex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in bicellular tight junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in compact myelin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in compact myelin ISO
    Inferred from Sequence Orthology
    more info
     
    part_of integrin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of laminin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    peripheral myelin protein 22
    Names
    growth arrest-specific protein 3
    peripheral myelin protein, 22 kDa

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001302255.2NP_001289184.1  peripheral myelin protein 22 isoform 1

      See identical proteins and their annotated locations for NP_001289184.1

      Status: VALIDATED

      Source sequence(s)
      AL592215
      Consensus CDS
      CCDS24837.1
      UniProtKB/Swiss-Prot
      P16646, Q91XF9
      UniProtKB/TrEMBL
      Q5SXS3
      Conserved Domains (1) summary
      pfam00822
      Location:1153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    2. NM_001302257.2NP_001289186.1  peripheral myelin protein 22 isoform 1

      See identical proteins and their annotated locations for NP_001289186.1

      Status: VALIDATED

      Source sequence(s)
      AL592215
      Consensus CDS
      CCDS24837.1
      UniProtKB/Swiss-Prot
      P16646, Q91XF9
      UniProtKB/TrEMBL
      Q5SXS3
      Conserved Domains (1) summary
      pfam00822
      Location:1153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    3. NM_001302258.2NP_001289187.1  peripheral myelin protein 22 isoform 1

      See identical proteins and their annotated locations for NP_001289187.1

      Status: VALIDATED

      Source sequence(s)
      AL592215
      Consensus CDS
      CCDS24837.1
      UniProtKB/Swiss-Prot
      P16646, Q91XF9
      UniProtKB/TrEMBL
      Q5SXS3
      Related
      ENSMUSP00000104342.2, ENSMUST00000108702.8
      Conserved Domains (1) summary
      pfam00822
      Location:1153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    4. NM_001302259.2NP_001289188.1  peripheral myelin protein 22 isoform 1

      See identical proteins and their annotated locations for NP_001289188.1

      Status: VALIDATED

      Source sequence(s)
      AL592215
      Consensus CDS
      CCDS24837.1
      UniProtKB/Swiss-Prot
      P16646, Q91XF9
      UniProtKB/TrEMBL
      Q5SXS3
      Related
      ENSMUSP00000104341.2, ENSMUST00000108701.8
      Conserved Domains (1) summary
      pfam00822
      Location:1153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    5. NM_001302260.2NP_001289189.1  peripheral myelin protein 22 isoform 1

      See identical proteins and their annotated locations for NP_001289189.1

      Status: VALIDATED

      Source sequence(s)
      AL592215
      Consensus CDS
      CCDS24837.1
      UniProtKB/Swiss-Prot
      P16646, Q91XF9
      UniProtKB/TrEMBL
      Q5SXS3
      Conserved Domains (1) summary
      pfam00822
      Location:1153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    6. NM_001302261.2NP_001289190.1  peripheral myelin protein 22 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL592215
      UniProtKB/TrEMBL
      Q5SXS3
      Conserved Domains (1) summary
      cl21598
      Location:185
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    7. NM_001404142.1NP_001391071.1  peripheral myelin protein 22 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL592215
      UniProtKB/TrEMBL
      Q5SXS3
    8. NM_001404143.1NP_001391072.1  peripheral myelin protein 22 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL592215
      UniProtKB/TrEMBL
      Q5SXS3
    9. NM_001404277.1NP_001391206.1  peripheral myelin protein 22 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL592215
    10. NM_001404278.1NP_001391207.1  peripheral myelin protein 22 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL592215
    11. NM_001404279.1NP_001391208.1  peripheral myelin protein 22 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL592215
    12. NM_001404280.1NP_001391209.1  peripheral myelin protein 22 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL592215
    13. NM_001404281.1NP_001391210.1  peripheral myelin protein 22 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL592215
    14. NM_001404282.1NP_001391211.1  peripheral myelin protein 22 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL592215
    15. NM_001404283.1NP_001391212.1  peripheral myelin protein 22 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL592215
    16. NM_001404284.1NP_001391213.1  peripheral myelin protein 22 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL592215
    17. NM_001404285.1NP_001391214.1  peripheral myelin protein 22 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL592215
    18. NM_001404286.1NP_001391215.1  peripheral myelin protein 22 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL592215
    19. NM_001404287.1NP_001391216.1  peripheral myelin protein 22 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL592215
    20. NM_001404288.1NP_001391217.1  peripheral myelin protein 22 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL592215
    21. NM_001404289.1NP_001391218.1  peripheral myelin protein 22 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL592215
    22. NM_001404290.1NP_001391219.1  peripheral myelin protein 22 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL592215
    23. NM_008885.4NP_032911.1  peripheral myelin protein 22 isoform 1

      See identical proteins and their annotated locations for NP_032911.1

      Status: VALIDATED

      Source sequence(s)
      AL592215
      Consensus CDS
      CCDS24837.1
      UniProtKB/Swiss-Prot
      P16646, Q91XF9
      UniProtKB/TrEMBL
      Q5SXS3
      Related
      ENSMUSP00000018361.4, ENSMUST00000018361.10
      Conserved Domains (1) summary
      pfam00822
      Location:1153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      63019808..63050373
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)