Property Summary

NCBI Gene PubMed Count 175
PubMed Score 915.85
PubTator Score 606.91

Knowledge Summary


No data available


  Disease Sources (7)

Disease Target Count P-value
lung carcinoma 2844 1.30796871974152E-19
non-small cell lung cancer 2798 3.2926083715101E-15
ovarian cancer 8492 2.19071338425173E-11
malignant mesothelioma 3163 7.3484054124152E-10
group 4 medulloblastoma 1875 1.17160534547486E-9
cystic fibrosis 1670 1.61599406590476E-8
lung adenocarcinoma 2714 3.4154962643213E-8
pituitary cancer 1972 1.67990028953086E-7
tuberculosis 1563 6.05648356895364E-6
breast carcinoma 1614 2.03059187656713E-5
lung cancer 4473 2.76458587423569E-5
pancreatic cancer 2300 3.84906983932246E-5
primary pancreatic ductal adenocarcinoma 1271 2.93360057700395E-4
Down syndrome 548 6.57081649082156E-4
invasive ductal carcinoma 2950 8.34808752301046E-4
dermatomyositis 967 0.00316823846867289
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00320611999100448
colon cancer 1475 0.00555940649832267
ductal carcinoma in situ 1745 0.00588349333678069
gastric carcinoma 832 0.0118866717760248
acute quadriplegic myopathy 1157 0.0126714627607757
non primary Sjogren syndrome sicca 840 0.0159483516987896
active Crohn's disease 918 0.0180042421261808
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.0285533156721114
medulloblastoma, large-cell 6234 0.0373707269607951
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0387233374234561
active ulcerative colitis 477 0.0445139051460143
Disease Target Count Z-score Confidence
Nerve compression syndrome 2 0.0 5.0



Accession Q01453 Q8WV01 PMP-22
Symbols DSS


PANTHER Protein Class (1)

  Ortholog (10)

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
1967 confirmatory 1 / 751 / 528 qHTS Assay for Modulators of Human Peripheral Myelin Protein 22 (PMP22) Expression/Activity

Gene RIF (100)

26977628 DNA diagnosis was performed in 5 families with hereditary neuropathy with liability to pressure palsies - the PMP22 deletion was found in 9 patients.
26921370 These results suggest that the severe congenital hypomyelinating neuropathy that characterizes Tr(J)mice results in structural and functional deficits of the developing Neuromuscular Junction.
26859249 Data (including data from studies using recombinant proteins that lack typical in-vivo post-translational modifications such as palmitoylation) suggest PMP22 exhibits little tendency to partition into liquid-ordered domains of unilamellar vesicles.
26629937 PMP22 gene knockdown inhibited progression of Chronic Myeloid Leukemia.
26544804 PMP22 Gene Duplication is associated with Charcot-Marie-Tooth disease type 1A.
26486801 our data suggest that an alteration of mRNA processing could be a pathogenic mechanism in CMT1A.
26154129 Osteosarcoma metastasis-related gene PMP22 participates in the proliferation, invasion, migration and colony formation of osteosarcoma cells possibly via the MAPK signal transduction pathway
26110377 The common 17p deletion accounts for approximately 50% and PMP22 micromutations for approximately 2% of cases in a large consecutive cohort of Greek patients with suspected HNPP.
26102530 This finding provides compelling evidence that the effects of these mutations on the energetics of PMP22 folding lie at the heart of the molecular basis of Charcot-Marie-Tooth disease.
26076881 PMP22 is a transmembrane glycoprotein component of myelin, important for myelin functioning. Mutation of PMP22 gene cause Charcot-Marie-Tooth Disease.

AA Sequence

VAFPLALLSGVIYVILRKRE                                                      141 - 160

Text Mined References (175)

PMID Year Title
26977628 2016 [Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients].
26921370 2016 Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy.
26859249 2016 Topologically Diverse Human Membrane Proteins Partition to Liquid-Disordered Domains in Phase-Separated Lipid Vesicles.
26629937 2014 Knockdown of Peripheral Myelin Protein 22 Inhibits the Progression of Chronic Myeloid Leukemia.
26544804 2015 Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
26486801 2016 Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy.
26154129 2015 The Functional Role of PMP22 Gene in the Proliferation and Invasion of Osteosarcoma.
26110377 2015 Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience.
26102530 2015 Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.
26076881 2015 Molecular and clinical features of inherited neuropathies due to PMP22 duplication.