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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
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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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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

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