PMP2 Gene (Protein Coding)

Peripheral Myelin Protein 2

GC08M081440
GIFtS:
43
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] See more...

Aliases for PMP2 Gene

Aliases for PMP2 Gene

  • Peripheral Myelin Protein 2 2 3 4 5
  • Myelin P2 Protein 3 4
  • M-FABP 2 3
  • FABP8 2 3
  • MP2 2 3
  • CMT1G 3
  • PMP2 5
  • 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 Charcot-Marie-Tooth Disease, Demyelinating, Type 1G 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 Summary 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 , Rfam classification and piRNA Summary for PMP2 Gene

Genomics for PMP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH08J081447 Promoter 0.3 EPDnew 600.7 0.0 -20 0.1 PMP2 ENSG00000253859 FABP9 LOC101927118
GH08J081448 Enhancer 0.2 Ensembl 609.5 -0.6 -562 0.8 PMP2 ENSG00000253859 FABP9 LOC101927118
GH08J081363 Enhancer 0.8 Ensembl ENCODE 16.5 +83.1 83139 6.2 ZNF692 IKZF2 RBAK JUND CEBPB USF1 GABPA FOS ELK4 ELF1 PMP2 ZFAND1 ENSG00000254162 CHMP4C FABP4 IMPA1 HSALNG0066571 lnc-FABP5-1 FABP5
GH08J081346 Enhancer 0.7 Ensembl ENCODE 14.9 +96.9 96938 10.2 POLR2A CEBPB MAFF EP300 JUN TRIM28 ZNF143 HSALNG0066569 PMP2 FABP9 HSALNG0066567 LOC105375925 FABP5
GH08J081421 Enhancer 0.4 Ensembl ENCODE 19.6 +24.9 24927 1.9 JUN PMP2 FABP4 CHMP4C piR-33605-458 HSALNG0066572 FABP5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PMP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PMP2

Top Transcription factor binding sites by QIAGEN in the PMP2 gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXO4
  • LUN-1
  • POU2F1
  • POU2F1a
  • POU6F1 (c2)
  • Sp1

Genomic Locations for PMP2 Gene

Genomic Locations for PMP2 Gene
chr8:81,440,326-81,447,439
(GRCh38/hg38)
Size:
7,114 bases
Orientation:
Minus strand
chr8:82,352,561-82,359,758
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for PMP2 Gene

Proteins for PMP2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for PMP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

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

Protein Domains for PMP2 Gene

InterPro:
Blocks:
  • Cytosolic fatty-acid binding protein
ProtoNet:

Suggested Antigen Peptide Sequences for PMP2 Gene

GenScript: Design optimal peptide antigens:
  • Peripheral myelin protein 2 (MYP2_HUMAN)

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PMP2 Gene

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

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

Human Phenotype Ontology for PMP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PMP2 Gene

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

Animal Model Products

CRISPR Products

miRNA for PMP2 Gene

miRTarBase miRNAs that target PMP2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMP2

No data available for Enzyme Numbers (IUBMB) , 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 4
cytosol 4
plasma membrane 2
cytoskeleton 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 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 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

PathCards logo

SuperPathways for PMP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Products:

  1. Drug

(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 Agonist, Full agonist, Activator, Activation, Target 0
Palmitic Acid Approved Pharma Agonist, Full agonist, Target 27
Dodecyldimethylamine 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PMP2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for PMP2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for PMP2 Gene
mRNA expression by GTEx for PMP2 GenemRNA expression by BioGPS 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 and MOPED for PMP2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PMP2

SOURCE GeneReport for Unigene cluster for PMP2 Gene:

Hs.571512

Evidence on tissue expression from TISSUES for PMP2 Gene

  • Nervous system(5)
  • Heart(2.2)
  • Eye(2.1)
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 30 31
  • 99.49 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PMP2 30
  • 90.66 (n)
Cow
(Bos Taurus)
 Mammalia PMP2 30 31
  • 90.66 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Pmp2 30 17 31
  • 86.36 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pmp2 30
  • 86.11 (n)
Oppossum
(Monodelphis domestica)
 Mammalia PMP2 31
  • 86 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PMP2 31
  • 58 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PMP2 30 31
  • 75.25 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PMP2 31
  • 51 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii LOC100536788 30
  • 62.85 (n)
Worm
(Caenorhabditis elegans)
 Secernentea lbp-9 30
  • 52.34 (n)
Species where no ortholog for PMP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PMP2: view image

Paralogs for PMP2 Gene

Paralogs for PMP2 Gene

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

  • MYP2_HUMAN
  • E5RH45_HUMAN
genes like me logo Genes that share paralogs with PMP2: view

Variants for PMP2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PMP2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
711896 Benign: not provided 81,444,914(-) A/G MISSENSE_VARIANT,INTRON_VARIANT
768248 Benign: not provided 81,443,432(-) C/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
769341 Benign: not provided 81,444,884(-) T/A MISSENSE_VARIANT,INTRON_VARIANT
781142 Benign: not provided 81,444,492(-) A/G INTRON_VARIANT
810298 Uncertain Significance: not provided 81,447,314(-) C/A MISSENSE_VARIANT,NONSENSE

Additional dbSNP identifiers (rs#s) for PMP2 Gene

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)

Additional Variant Information for PMP2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PMP2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for PMP2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, demyelinating, type 1g
  • cmt1g
neuritis
  • peripheral neuritis
charcot-marie-tooth disease
  • peroneal muscular atrophy
neuropathy
  • peripheral neuropathy
encephalitozoonosis
  • infection by encephalitozoon
- elite association - COSMIC cancer census association via MalaCards
Search PMP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYP2_HUMAN
  • Charcot-Marie-Tooth disease, demyelinating, 1G (CMT1G) [MIM:618279]: An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1G is characterized by distal muscle weakness and atrophy with onset in the first or second decade. {ECO:0000269 PubMed:26257172, ECO:0000269 PubMed:26828946, ECO:0000269 PubMed:27009151, ECO:0000269 PubMed:30249361}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PMP2

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

No data available for 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 23
  2. Partial structure and mapping of the human myelin P2 protein gene. (PMID: 7525873) Narayanan V … Tennekoon G (Journal of neurochemistry 1994) 3 4 23
  3. Structure and localization of the gene encoding human peripheral myelin protein 2 (PMP2). (PMID: 8288226) Hayasaka K … Shimizu N (Genomics 1993) 2 3 23
  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
  5. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. (PMID: 27009151) Motley WW … Scherer SS (Brain : a journal of neurology 2016) 3 4

ExternalLinks

View latest publications for PMP2 gene in Mastermind

Products for PMP2 Gene

  • Addgene plasmids for PMP2

Sources for PMP2 Gene