PMP2 (peripheral myelin protein 2)

2019-08-01  

Identity

HGNC
LOCATION
8q21.13
LOCUSID
ALIAS
CMT1G,FABP8,M-FABP,MP2,P2

Other Information

Locus ID:

NCBI: 5375
MIM: 170715
HGNC: 9117
Ensembl: ENSG00000147588

Variants:

dbSNP: 5375
ClinVar: 5375
TCGA: ENSG00000147588
COSMIC: PMP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147588ENST00000256103P02689
ENSG00000147588ENST00000519260E5RH45

Expression (GTEx)

0
100
200
300
400
500
600

References

Pubmed IDYearTitleCitations
204219742010Structural and functional characterization of human peripheral nervous system myelin protein P2.21
270091512016De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.17
244193892014Atomic resolution view into the structure-function relationships of the human myelin peripheral membrane protein P2.16
268289462016A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy.12
287477622017Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2.9
265272662015Production, crystallization and neutron diffraction of fully deuterated human myelin peripheral membrane protein P2.4
299409442018Structure and dynamics of a human myelin protein P2 portal region mutant indicate opening of the β barrel in fatty acid binding proteins.3
305068952019The myelin protein PMP2 is regulated by SOX10 and drives melanoma cell invasion.2
314129002019Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.1
293363622018Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.0

Citation

Dessen P

PMP2 (peripheral myelin protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58097/pmp2