PMP22 (peripheral myelin protein 22)

2003-02-01  

Identity

HGNC
PMP22
LOCATION
17p12
LOCUSID
5376
ALIAS
CIDP,CMT1A,CMT1E,DSS,GAS-3,GAS3,HMSNIA,HNPP,Sp110
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5376
MIM: 601097
HGNC: 9118
Ensembl: ENSG00000109099

Variants:

dbSNP: 5376
ClinVar: 5376
TCGA: ENSG00000109099
COSMIC: PMP22

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109099ENST00000312280Q01453
ENSG00000109099ENST00000312280Q6FH25
ENSG00000109099ENST00000395936A8MU75
ENSG00000109099ENST00000395938Q01453
ENSG00000109099ENST00000395938Q6FH25
ENSG00000109099ENST00000426385J3KQW0
ENSG00000109099ENST00000494511J3KT36
ENSG00000109099ENST00000580584J3QS08
ENSG00000109099ENST00000612492Q01453
ENSG00000109099ENST00000612492Q6FH25
ENSG00000109099ENST00000643451A0A2R8Y5L5
ENSG00000109099ENST00000644020A8MU75
ENSG00000109099ENST00000646419A8MU75

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
383018672024Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel.0
385655102024[Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene].0
383018672024Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel.0
385655102024[Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene].0
365118782023Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.6
365812102023How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease.4
373376742023Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.0
365118782023Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.6
365812102023How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease.4
373376742023Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.0
349963902022Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.0
355012752022Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies.2
358860022022Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.4
359742572022Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation.0
362532322022Young infants with PMP22 duplication can have minor nerve conduction study abnormalities.0

Citation

Dessen P

PMP22 (peripheral myelin protein 22)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41755