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    PMP2 peripheral myelin protein 2 [ Homo sapiens (human) ]

    Gene ID: 5375, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PMP2provided by HGNC
    Official Full Name
    peripheral myelin protein 2provided by HGNC
    Primary source
    HGNC:HGNC:9117
    See related
    Ensembl:ENSG00000147588 MIM:170715; AllianceGenome:HGNC:9117
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P2; MP2; CMT1G; FABP8; M-FABP
    Summary
    The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]
    Expression
    Restricted expression toward brain (RPKM 121.5) See more
    Orthologs
    all
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    Genomic context

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    Location:
    8q21.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (81440326..81447439, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (81871924..81879037, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (82352561..82359674, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375925 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:82262688-82263887 Neighboring gene uncharacterized LOC105375926 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:82298809-82299309 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:82339748-82340344 Neighboring gene uncharacterized LOC101927118 Neighboring gene fatty acid binding protein 9 Neighboring gene fatty acid binding protein 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. PMP2/FABP8 induces PI(4,5)P(2)-dependent transbilayer reorganization of sphingomyelin in the plasma membrane. Abe M, et al. Cell Rep, 2021 Nov 9. PMID 34758297
    2. Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants. Uusitalo M, et al. FEBS J, 2021 Dec. PMID 34138518
    3. Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2. Geroldi A, et al. J Peripher Nerv Syst, 2020 Jun. PMID 32277537
    4. Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice. Ruskamo S, et al. J Biol Chem, 2020 Jun 26. PMID 32265298, Free PMC Article
    5. Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy. Palaima P, et al. Orphanet J Rare Dis, 2019 Aug 14. PMID 31412900, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PMP2/FABP8 induces PI(4,5)P2-dependent transbilayer reorganization of sphingomyelin in the plasma membrane.
      Title: PMP2/FABP8 induces PI(4,5)P(2)-dependent transbilayer reorganization of sphingomyelin in the plasma membrane.
    2. Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants.
      Title: Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants.
    3. Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2.
      Title: Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2.
    4. Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice.
      Title: Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice.
    5. Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.
      Title: Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.
    6. High PMP2 expression is associated with melanoma cell invasion.
      Title: The myelin protein PMP2 is regulated by SOX10 and drives melanoma cell invasion.
    7. These findings demonstrate that altered biophysical properties and functional dynamics of P2 may cause myelin defects in Charcot-Marie-Tooth disease 1 patients.
      Title: Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2.
    8. The structural characterization of the F57A mutant of P2 which shows changes in the portal region and helix alpha2 and an unfolded status upon lipid bilayer binding. Further results suggest a central role for Phe57 in regulating the opening of the portal region in human P2, and the F57A mutation disturbs dynamic cross-correlation networks in the portal region of P2.
      Title: Structure and dynamics of a human myelin protein P2 portal region mutant indicate opening of the β barrel in fatty acid binding proteins.
    9. SH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese Charcot-Marie-Tooth (CMT) patients.
      Title: Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.
    10. Our genetic and clinical findings in these kindred demonstrate that dominant PMP2 mutations cause Charcot-Marie- Tooth disease type 1.
      Title: De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease, demyelinating, type 1G
    MedGen: C4748940 OMIM: 618279 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cholesterol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables fatty acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables fatty acid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in fatty acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in membrane organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in myelin sheath IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    myelin P2 protein

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_052979.1 RefSeqGene

      Range
      5085..12198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001348381.2 → NP_001335310.1  myelin P2 protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC018616
      Consensus CDS
      CCDS87617.1
      UniProtKB/TrEMBL
      E5RH45
      Related
      ENSP00000429917.1, ENST00000519260.1

    2. NM_002677.5 → NP_002668.1  myelin P2 protein isoform 1

      See identical proteins and their annotated locations for NP_002668.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC018616, BC034997, DA160405
      Consensus CDS
      CCDS6229.1
      UniProtKB/Swiss-Prot
      P02689, Q6FHL4
      Related
      ENSP00000256103.2, ENST00000256103.3
      Conserved Domains (1) summary
      cd19469
      Location:3 → 131
      FABP8; fatty acid binding protein 8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      81440326..81447439 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      81871924..81879037 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P02689.3 GenPept UniProtKB/Swiss-Prot:P02689

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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