PMP2

Protein identityUniProt · HPA

UniProt accession

P02689

Gene

PMP2

Ensembl

ENSG00000147588

Chromosome

8

Canonical length

132 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

132 residues, UniProt reviewed canonical sequence.

>P02689|PMP2
     1  MSNKFLGTWK LVSSENFDDY MKALGVGLAT RKLGNLAKPT VIISKKGDII TIRTESTFKN
    61  TEISFKLGQE FEETTADNRK TKSIVTLQRG SLNQVQRWDG KETTIKRKLV NGKMVAECKM
   121  KGVVCTRIYE KV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PMP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.3

Highest tissue expression

389 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PMP2.

Disease | AllUniProt

Conditions PMP2 is implicated in, by any mechanism.

• Charcot-Marie-Tooth disease, demyelinating, type 1G (CMT1G) MIM:618279

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 135 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Charcot-Marie-Tooth disease, demyelinating, type 1G
• Peripheral neuropathy
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.3

gnomAD pLI

0.01

gnomAD missense Z

0.1

DepMap mean gene effect

0.1

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• fatty acid transport
• membrane organization

Molecular functions

• cholesterol binding
• fatty acid binding

Cellular components

• cytosol
• extracellular exosome
• myelin sheath
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Cytosolic fatty-acid binding
• Lipocalin/cytosolic fatty-acid binding domain
• Calycin
• Intracellular lipid binding protein
• Lipocalin / cytosolic fatty-acid binding protein family
• Myelin P2 protein

KeywordsUniProt

• Acetylation
• Charcot-Marie-Tooth disease
• Cytoplasm
• Disulfide bond
• Lipid-binding
• Neurodegeneration
• Neuropathy
• Transport