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

Gene ID: 18858, updated on 8-Feb-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, Apr 2022]
Expression
Broad expression in lung adult (RPKM 99.7), small intestine adult (RPKM 77.0) and 16 other tissues See more
Orthologs
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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
  • 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 
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
 
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 
acts_upstream_of_or_within 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)

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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/Swiss-Prot
    P16646, Q91XF9
    UniProtKB/TrEMBL
    Q5SXS3
  8. NM_001404143.1NP_001391072.1  peripheral myelin protein 22 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL592215
    UniProtKB/Swiss-Prot
    P16646, Q91XF9
    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)