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Gene: PMP22 (peripheral myelin protein 22) Homo sapiens
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Symbol: PMP22
Name: peripheral myelin protein 22
Description: Involved in bleb assembly and cell death. Localizes to plasma membrane. Implicated in Charcot-Marie-Tooth disease (multiple); Guillain-Barre syndrome; and hereditary neuropathy with liability to pressure palsies.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia); CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3; growth arrest-specific 3; growth arrest-specific protein 3; HMSNIA; HNPP; MGC20769; peripheral myelin protein 22 kDa; PMP-22; Sp110
Orthologs:
Mus musculus (house mouse) : Pmp22 (peripheral myelin protein 22)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pmp22 (peripheral myelin protein 22)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pmp22 (peripheral myelin protein 22)
Pan paniscus (bonobo/pygmy chimpanzee) : PMP22 (peripheral myelin protein 22)
Canis lupus familiaris (dog) : PMP22 (peripheral myelin protein 22)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pmp22 (peripheral myelin protein 22)
Sus scrofa (pig) : PMP22 (peripheral myelin protein 22)
Chlorocebus sabaeus (African green monkey) : PMP22 (peripheral myelin protein 22)
Heterocephalus glaber (naked mole-rat) : Pmp22 (peripheral myelin protein 22)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1715,229,777 - 15,265,326 (-)EnsemblGRCh38hg38GRCh38
GRCh381715,229,777 - 15,265,326 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371715,133,094 - 15,168,674 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361715,073,821 - 15,109,369 (-)NCBINCBI36hg18NCBI36
Build 341715,073,821 - 15,104,818NCBI
Celera1715,157,676 - 15,193,224 (-)NCBI
Cytogenetic Map17p12NCBI
HuRef1715,027,217 - 15,062,782 (-)NCBIHuRef
CHM1_11715,141,853 - 15,177,435 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on PMP22
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 69112
Created: 2001-11-08
Species: Homo sapiens
Last Modified: 2020-04-21
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.