Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5375
MIM: 170715
HGNC: 9117
Ensembl: ENSG00000147588
Variants:
dbSNP: 5375
ClinVar: 5375
TCGA: ENSG00000147588
COSMIC: PMP2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000147588 | ENST00000256103 | P02689 |
| ENSG00000147588 | ENST00000519260 | E5RH45 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34138518 | 2021 | Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants. | 6 |
| 34758297 | 2021 | PMP2/FABP8 induces PI(4,5)P(2)-dependent transbilayer reorganization of sphingomyelin in the plasma membrane. | 11 |
| 34138518 | 2021 | Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants. | 6 |
| 34758297 | 2021 | PMP2/FABP8 induces PI(4,5)P(2)-dependent transbilayer reorganization of sphingomyelin in the plasma membrane. | 11 |
| 32265298 | 2020 | Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice. | 5 |
| 32277537 | 2020 | Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2. | 3 |
| 32265298 | 2020 | Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice. | 5 |
| 32277537 | 2020 | Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2. | 3 |
| 30506895 | 2019 | The myelin protein PMP2 is regulated by SOX10 and drives melanoma cell invasion. | 14 |
| 31412900 | 2019 | Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy. | 3 |
| 30506895 | 2019 | The myelin protein PMP2 is regulated by SOX10 and drives melanoma cell invasion. | 14 |
| 31412900 | 2019 | Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy. | 3 |
| 29336362 | 2018 | Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth. | 2 |
| 29940944 | 2018 | Structure and dynamics of a human myelin protein P2 portal region mutant indicate opening of the β barrel in fatty acid binding proteins. | 10 |
| 29336362 | 2018 | Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth. | 2 |
Citation
Dessen P
PMP2 (peripheral myelin protein 2)
Atlas Genet Cytogenet Oncol Haematol. 2019-08-01
Online version: http://atlasgeneticsoncology.org/gene/58097/pmp2-(peripheral-myelin-protein-2)
