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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. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for PMP2 Gene

Promoters and enhancers for PMP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I081447 Promoter 0.5 EPDnew 550.8 +0.1 64 0.1 PMP2 ENSG00000253859
GH08I081290 Enhancer 1.1 FANTOM5 Ensembl ENCODE 10.1 +156.2 156198 1.3 BACH1 MAFG EP300 ZNF316 MAFF IKZF1 EMSY MAFK RUNX3 IKZF2 PMP2 PAG1 ENSG00000254027 LOC105375925
GH08I081363 Enhancer 0.9 Ensembl ENCODE 10.3 +83.2 83241 2.4 ELK4 USF1 JUN USF2 CEBPB BATF GABPA JUND RBAK ZNF692 ZFAND1 ENSG00000254162 PMP2 FABP4 IMPA1 LOC105375926 ENSG00000253859
GH08I081496 Enhancer 0.6 ENCODE dbSUPER 10.5 -49.2 -49154 0.8 RXRA REST NR2F2 PMP2 FABP4 LOC101927118 ENSG00000253859
GH08I081421 Enhancer 0.3 ENCODE 19.5 +25.0 25011 1.9 JUN PMP2 FABP4 CHMP4C ENSG00000253859 LOC105375926
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PMP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PMP2 gene promoter:

Genomic Locations for PMP2 Gene

Genomic Locations for PMP2 Gene
chr8:81,440,326-81,447,523
(GRCh38/hg38)
Size:
7,198 bases
Orientation:
Minus strand
chr8:82,352,561-82,359,758
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for PMP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for PMP2

No data available for DME Specific Peptides for PMP2 Gene

Domains & Families for PMP2 Gene

Gene Families for PMP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for PMP2 Gene

Gene Ontology (GO) - Molecular Function for PMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

miRNA for PMP2 Gene

miRTarBase miRNAs that target PMP2

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,HDA 23533145
genes like me logo Genes that share ontologies with PMP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PMP2 Gene

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, Investigational, Vet_approved Pharma Full agonist, Agonist, Target 0
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist, Target 23
Lauryl Dimethylamine-N-Oxide Experimental Pharma Target 0
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:

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

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 33 34
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia PMP2 33 34
  • 90.66 (n)
dog
(Canis familiaris)
Mammalia PMP2 33
  • 90.66 (n)
mouse
(Mus musculus)
Mammalia Pmp2 33 16 34
  • 86.36 (n)
rat
(Rattus norvegicus)
Mammalia Pmp2 33
  • 86.11 (n)
oppossum
(Monodelphis domestica)
Mammalia PMP2 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PMP2 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves PMP2 33 34
  • 75.25 (n)
lizard
(Anolis carolinensis)
Reptilia PMP2 34
  • 51 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100536788 33
  • 62.85 (n)
worm
(Caenorhabditis elegans)
Secernentea lbp-9 33
  • 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 Variation AA Info Type
rs879253869 likely-pathogenic, Peripheral neuropathy 81,444,935(-) A/T coding_sequence_variant, missense_variant
rs1000255873 -- 81,444,169(-) A/T intron_variant
rs1000615100 -- 81,447,649(-) A/T upstream_transcript_variant
rs1000708430 -- 81,441,798(-) T/A 3_prime_UTR_variant
rs1001049779 -- 81,447,967(-) A/C upstream_transcript_variant

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

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

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)

Additional Variant Information 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

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

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

Additional Disease Information for 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 58
  2. Partial structure and mapping of the human myelin P2 protein gene. (PMID: 7525873) Narayanan V … Tennekoon G (Journal of neurochemistry 1994) 3 4 22 58
  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 58
  4. Isolation and sequence determination of cDNA encoding P2 protein of human peripheral myelin. (PMID: 1720307) Hayasaka K … Uyemura K (Biochemical and biophysical research communications 1991) 2 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for PMP2 Gene

Sources for PMP2 Gene

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