Property Summary

NCBI Gene PubMed Count 175
Grant Count 144
R01 Count 73
Funding $15,194,409.19
PubMed Score 915.85
PubTator Score 606.91

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (54)

Disease Z-score Confidence
Neuropathy 210 7.679 3.8
Brachial plexus neuropathy 5 5.942 3.0
Polyneuropathy 30 5.905 3.0
Carpal tunnel syndrome 19 4.458 2.2
Guillain-Barre syndrome 15 3.165 1.6
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... 2 
Charcot-Marie-Tooth Disease, Demyelinati... 1 
Charcot-Marie-Tooth Disease, Type Ia (di... 1 
Charcot-Marie-Tooth disease 74 4.0
Charcot-Marie-Tooth disease and deafness 1
Charcot-Marie-Tooth disease type 3 6 4.0
Charcot-Marie-Tooth disease, Type 1E 1
Dejerine-Sottas Disease (disorder) 5
Demyelinating Diseases 7
Developmental Disabilities 20
Down syndrome 548
Epilepsies, Myoclonic 5
Hereditary Motor and Sensory Neuropathie... 6 
Hereditary Motor and Sensory Neuropathy ... 2 
Hereditary liability to pressure palsies 1
Muscle Weakness 92
Nerve compression syndrome 2 5.0
Neurodegenerative disease 383 4.0
Paresthesia 2
Peripheral Neuropathy 303
Quadriplegia 14
Reflex, Abnormal 4
Roussy-Levy Syndrome (disorder) 2
active Crohn's disease 918
active ulcerative colitis 477
acute quadriplegic myopathy 1,157
autosomal dominant Emery-Dreifuss muscul... 499 
breast carcinoma 1,614
colon cancer 1,475
cystic fibrosis 1,665
dermatomyositis 933
ductal carcinoma in situ 1,745
gastric carcinoma 832
group 4 medulloblastoma 1,875
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous neoplasm ... 3,289 
invasive ductal carcinoma 2,950
lung adenocarcinoma 2,713
lung cancer 4,466
lung carcinoma 2,844
malignant mesothelioma 3,162
medulloblastoma, large-cell 6,234
non primary Sjogren syndrome sicca 840
non-small cell lung cancer 2,798
ovarian cancer 8,484
pancreatic cancer 2,300
pituitary cancer 1,972
primary pancreatic ductal adenocarcinoma 1,271
tuberculosis 1,557

Expression

Synonym

Accession Q01453 Q8WV01 PMP-22
Symbols DSS
GAS3
HNPP
CMT1A
CMT1E
GAS-3
Sp110
HMSNIA

Gene

PANTHER Protein Class (1)

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)

PMID Text
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.
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AA Sequence

MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNEWLQSVQATMI      1 - 70
LSIIFSILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAAAIYTVRHPEWHLNSDYSYGFAYILAW     71 - 140
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.
More...