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

    Gene ID: 5375, updated on 10-Dec-2024

    Summary

    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
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    Genomic context

    See PMP2 in Genome Data Viewer
    Location:
    8q21.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (81440326..81447439, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (81871924..81879037, complement)
    RS_2024_09 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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (14 hits/1252 screens)

    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

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cholesterol binding PubMed 
    enables fatty acid binding  
    enables fatty acid binding PubMed 
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in fatty acid transport  
    involved_in membrane organization  
    Component Evidence Code Pubs
    is_active_in cytosol  
    located_in extracellular exosome PubMed 
    located_in myelin sheath  
    is_active_in nucleus  

    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.

    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_2024_08

    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)
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