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Aliases for PMP2 Gene

Aliases for PMP2 Gene

  • Peripheral Myelin Protein 2 2 3 4 5
  • Myelin P2 Protein 3
  • M-FABP 3
  • FABP8 3
  • MP2 3
  • P2 3

External Ids for PMP2 Gene

Previous GeneCards Identifiers for PMP2 Gene

  • GC08M081231
  • GC08M082402
  • GC08M082075
  • GC08M082515
  • GC08M082352
  • GC08M077842

Summaries for PMP2 Gene

Entrez Gene Summary for PMP2 Gene

  • 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]

GeneCards Summary for PMP2 Gene

PMP2 (Peripheral Myelin Protein 2) is a Protein Coding gene. Diseases associated with PMP2 include Pmp2-Related Charcot-Marie-Tooth Disease Type 1 and Neuritis. GO annotations related to this gene include transporter activity and cholesterol binding. An important paralog of this gene is FABP9.

UniProtKB/Swiss-Prot for PMP2 Gene

  • May play a role in lipid transport protein in Schwann cells. May bind cholesterol.

Gene Wiki entry for PMP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMP2 Gene

Genomics for PMP2 Gene

Regulatory Elements for PMP2 Gene

Enhancers for PMP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G081290 1.3 FANTOM5 Ensembl ENCODE 10.1 +156.2 156198 1.3 RFX1 MTA2 MAFG BACH1 BMI1 EP300 ZNF316 MAFF IKZF1 EED PMP2 PAG1 ENSG00000254027 LOC105375925
GH08G081363 1 Ensembl ENCODE 10.2 +83.2 83242 2.4 ELK4 MTA2 JUN USF2 CEBPB TBX21 FOXA1 JUND RAD51 GATA2 PMP2 FABP4 IMPA1 LOC105375926 ENSG00000253859
GH08G081421 0.5 ENCODE 19.5 +25.0 25012 1.9 CTCF JUN NFE2 RAD21 PMP2 FABP4 CHMP4C ENSG00000253859 LOC105375926
GH08G081404 0.4 ENCODE 19.3 +42.1 42115 1.3 FOXP2 PMP2 IMPA1 ENSG00000253859 LOC105375926
GH08G081496 0.6 ENCODE dbSUPER 10.5 -49.2 -49154 0.8 NR2F2 PMP2 FABP4 LOC101927118
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PMP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PMP2 Gene

Chromosome:
8
Start:
81,440,326 bp from pter
End:
81,447,523 bp from pter
Size:
7,198 bases
Orientation:
Minus strand

Genomic View for PMP2 Gene

Genes around PMP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMP2 Gene

Proteins for PMP2 Gene

  • Protein details for PMP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02689-MYP2_HUMAN
    Recommended name:
    Myelin P2 protein
    Protein Accession:
    P02689
    Secondary Accessions:
    • Q6FHL4

    Protein attributes for PMP2 Gene

    Size:
    132 amino acids
    Molecular mass:
    14909 Da
    Quaternary structure:
    • Monomer.
    Miscellaneous:
    • P2 protein and myelin basic protein together constitute a major fraction of peripheral nervous system myelin protein.

    Three dimensional structures from OCA and Proteopedia for PMP2 Gene

neXtProt entry for PMP2 Gene

Post-translational modifications for PMP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PMP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PMP2 Gene

Domains & Families for PMP2 Gene

Gene Families for PMP2 Gene

Suggested Antigen Peptide Sequences for PMP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P02689

UniProtKB/Swiss-Prot:

MYP2_HUMAN :
  • Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior.
  • Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.
Domain:
  • Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior.
Family:
  • Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.
genes like me logo Genes that share domains with PMP2: view

Function for PMP2 Gene

Molecular function for PMP2 Gene

GENATLAS Biochemistry:
peripheral myelin protein 2,potentially involved in the transport of fatty acids or metabolism of myelin lipids
UniProtKB/Swiss-Prot Function:
May play a role in lipid transport protein in Schwann cells. May bind cholesterol.

Gene Ontology (GO) - Molecular Function for PMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
GO:0005504 fatty acid binding IDA 20421974
GO:0005515 protein binding IPI 25416956
GO:0008289 lipid binding IEA --
GO:0015485 cholesterol binding IDA 20421974
genes like me logo Genes that share ontologies with PMP2: view
genes like me logo Genes that share phenotypes with PMP2: view

Animal Models for PMP2 Gene

MGI Knock Outs for PMP2:
  • Pmp2 tm1.1(KOMP)Vlcg

Animal Model Products

miRNA for PMP2 Gene

miRTarBase miRNAs that target PMP2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PMP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PMP2 Gene

Localization for PMP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMP2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PMP2 gene
Compartment Confidence
extracellular 5
cytosol 4
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0043209 myelin sheath IEA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with PMP2: view

Pathways & Interactions for PMP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0061024 membrane organization IEA --
genes like me logo Genes that share ontologies with PMP2: view

No data available for Pathways by source and SIGNOR curated interactions for PMP2 Gene

Drugs & Compounds for PMP2 Gene

(4) Drugs for PMP2 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
oleic acid Approved, Vet_approved Pharma Full agonist, Agonist, Target 0
Lauryl Dimethylamine-N-Oxide Experimental Pharma Target 0
Palmitic Acid Experimental Pharma Full agonist, Agonist, Target 22
S-Hydroxycysteine Experimental Pharma Target 0

(2) Additional Compounds for PMP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PMP2: view

Transcripts for PMP2 Gene

mRNA/cDNA for PMP2 Gene

Unigene Clusters for PMP2 Gene

Peripheral myelin protein 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PMP2

Alternative Splicing Database (ASD) splice patterns (SP) for PMP2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c
SP1:
SP2:
SP3: -

Relevant External Links for PMP2 Gene

GeneLoc Exon Structure for
PMP2
ECgene alternative splicing isoforms for
PMP2

Expression for PMP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PMP2 Gene

mRNA differential expression in normal tissues according to GTEx for PMP2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x9.7), Brain - Substantia nigra (x5.9), Brain - Amygdala (x5.2), Nerve - Tibial (x4.2), Brain - Putamen (basal ganglia) (x4.1), and Brain - Hypothalamus (x4.1).

Protein differential expression in normal tissues from HIPED for PMP2 Gene

This gene is overexpressed in Spinal cord (61.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PMP2 Gene



NURSA nuclear receptor signaling pathways regulating expression of PMP2 Gene:

PMP2

SOURCE GeneReport for Unigene cluster for PMP2 Gene:

Hs.571512

Evidence on tissue expression from TISSUES for PMP2 Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with PMP2: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PMP2 Gene

Orthologs for PMP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PMP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PMP2 34 35
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia PMP2 34 35
  • 90.66 (n)
dog
(Canis familiaris)
Mammalia PMP2 34
  • 90.66 (n)
mouse
(Mus musculus)
Mammalia Pmp2 34 16 35
  • 86.36 (n)
rat
(Rattus norvegicus)
Mammalia Pmp2 34
  • 86.11 (n)
oppossum
(Monodelphis domestica)
Mammalia PMP2 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PMP2 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves PMP2 34 35
  • 75.25 (n)
lizard
(Anolis carolinensis)
Reptilia PMP2 35
  • 51 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100536788 34
  • 62.85 (n)
worm
(Caenorhabditis elegans)
Secernentea lbp-9 34
  • 52.34 (n)
Species where no ortholog for PMP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PMP2 Gene

ENSEMBL:
Gene Tree for PMP2 (if available)
TreeFam:
Gene Tree for PMP2 (if available)

Paralogs for PMP2 Gene

Paralogs for PMP2 Gene

(15) SIMAP similar genes for PMP2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PMP2: view

Variants for PMP2 Gene

Sequence variations from dbSNP and Humsavar for PMP2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs879253869 Likely pathogenic 81,444,935(-) GATCA(A/T)CAGCA reference, missense
rs1000255873 -- 81,444,169(+) CTTGC(A/T)GAGAG intron-variant
rs1000615100 -- 81,447,649(+) TTTGA(A/T)TCTTC upstream-variant-2KB
rs1000708430 -- 81,441,798(+) CTATT(A/T)TTTTT utr-variant-3-prime
rs1001049779 -- 81,447,967(+) CAGAC(A/C)AAGAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PMP2 Gene

Variant ID Type Subtype PubMed ID
nsv465721 CNV gain 19166990
nsv611607 CNV gain 21841781

Variation tolerance for PMP2 Gene

Residual Variation Intolerance Score: 79.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.63; 45.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PMP2 Gene

Human Gene Mutation Database (HGMD)
PMP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMP2 Gene

Disorders for PMP2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PMP2 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pmp2-related charcot-marie-tooth disease type 1
  • pmp2-related cmt1
neuritis
  • peripheral neuritis
encephalitozoonosis
  • infection by encephalitozoon
guillain-barre syndrome
  • acute infective polyneuritis
microsporidiosis
  • infection by microspora
- elite association - COSMIC cancer census association via MalaCards
Search PMP2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PMP2

Genetic Association Database (GAD)
PMP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PMP2
genes like me logo Genes that share disorders with PMP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PMP2 Gene

Publications for PMP2 Gene

  1. Structural and functional characterization of human peripheral nervous system myelin protein P2. (PMID: 20421974) Majava V. … Kursula P. (PLoS ONE 2010) 3 4 22 64
  2. Partial structure and mapping of the human myelin P2 protein gene. (PMID: 7525873) Narayanan V. … Tennekoon G. (J. Neurochem. 1994) 3 4 22 64
  3. Structure and localization of the gene encoding human peripheral myelin protein 2 (PMP2). (PMID: 8288226) Hayasaka K. … Shimizu N. (Genomics 1993) 2 3 22 64
  4. Isolation and sequence determination of cDNA encoding P2 protein of human peripheral myelin. (PMID: 1720307) Hayasaka K. … Uyemura K. (Biochem. Biophys. Res. Commun. 1991) 2 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for PMP2 Gene

  • Addgene plasmids for PMP2

Sources for PMP2 Gene

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