PMP22 (peripheral myelin protein 22)

2003-02-01 Affiliation

Identity

HGNC

PMP22

LOCATION

17p12

LOCUSID

5376

ALIAS

CIDP,CMT1A,CMT1E,DSS,GAS-3,GAS3,HMSNIA,HNPP,Sp110

FUSION GENES

Show Gene Fusions

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: 5376
MIM: 601097
HGNC: 9118
Ensembl: ENSG00000109099

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000109099	ENST00000312280	Q01453
ENSG00000109099	ENST00000312280	Q6FH25
ENSG00000109099	ENST00000395936	A8MU75
ENSG00000109099	ENST00000395938	Q01453
ENSG00000109099	ENST00000395938	Q6FH25
ENSG00000109099	ENST00000426385	J3KQW0
ENSG00000109099	ENST00000494511	J3KT36
ENSG00000109099	ENST00000580584	J3QS08
ENSG00000109099	ENST00000612492	Q01453
ENSG00000109099	ENST00000612492	Q6FH25
ENSG00000109099	ENST00000643451	A0A2R8Y5L5
ENSG00000109099	ENST00000644020	A8MU75
ENSG00000109099	ENST00000646419	A8MU75

Expression (GTEx)

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 ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
23224996	2013	The PMP22 gene and its related diseases.	48
16326107	2006	Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression.	47
11835375	2002	Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.	33
20538960	2010	A candidate gene study of obstructive sleep apnea in European Americans and African Americans.	30
16436605	2006	Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina.	27
19290556	2009	Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.	23
24078732	2013	Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.	23
15755691	2005	Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation.	21
16437560	2006	T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.	21

Citation

Dessen P

PMP22 (peripheral myelin protein 22)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41755/pmp22-(peripheral-myelin-protein-22)