Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

Summary Expression Gene Literature (10) GO Terms (10) Nucleotides (250) Proteins (44) Interactants (134) Wiki
XB-GENEPAGE-1004857
Gene Symbol:
pmp22

Gene Name:
peripheral myelin protein 22

Synonyms:
dss , hnpp , cmt1a , cmt1e , gas-3 , sp110 , hmsnia ( Add synonyms , Nomenclature history )

Gene Function:


Protein Function :



Interactants:
Loading ...

Diseases: 


Disease Ontology:
Charcot-Marie-Tooth disease type 3 [+]

OMIM:
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS [+]

External Links:
1/4
 
Xenbase Gene ID XB-GENE-1004858 XB-GENE-6256607 XB-GENE-17335270
Gene Symbol pmp22 pmp22.L pmp22.S
Chromosome Chr10 chr9_10L chr9_10S
Molecules tropicalis laevis.L laevis.S
Genomic Sequence Version 9.1 Version 9.2 Version 9.2
CDS Gene model Gene model Gene model
Entrez Gene 594946
379977
446837
mRNA RefSeq RefSeq RefSeq
Protein RefSeq RefSeq RefSeq
Genomic
tropicalis laevis.L laevis.S
Genome Browser
(Click image to open in Genome Browser)
Genomic Synteny Genomicus PANTHER
Expression                  Development Stages    Embryonic TissuesAdult Tissues
Summary for
More Information
Xenbase Expression Details In situ images Single cell data at SPRING Ensembl In situ: Single cell: RNA-Seq:
Data Mining tropicalis laevis.L laevis.S
XenMine pmp22 pmp22.L pmp22.S
Orthology
Knowledgebases Entrez Gene Genetic Phenotypes Gene Expression
human
HGNC AGR, OMIM:Gene, GeneCards PMP22 OMIM Ensembl, Allen Brain Atlas, Protein Atlas
mouse
MGI, AGR Pmp22 MGI, IMPC Ensembl, Allen Brain Atlas, Eurexpress, MGI
rat
RGD, AGR Pmp22 Ensembl
zebrafish
ZFIN, AGR ZFIN, AGR pmp22a prpf38a ZFIN Ensembl
chicken
GEISHA PMP22 Ensembl
fruit fly
worm
Publications
First RAE1 is a shuttling mRNA export factor that binds to a GLEBS-like NUP98 motif at the nuclear pore complex through multiple domains., J Cell Biol 1999                    
Most Recent De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy., J Med Genet 2020  
All View All Papers 2 paper(s) referencing morpholinos 2 paper(s) referencing OMIMs 2 paper(s) referencing Disease Ontology
Functional Ontologies tropicalis laevis.L laevis.S
GO 10 terms 1 terms 1 terms
PANTHER pmp22
KEGG Pathways K19289 K19289 K19289
KOG
Reagents tropicalis laevis.L laevis.S
CRISPRscan Tracks pmp22
ORFs pmp22 ORF1 pmp22.L ORF1 pmp22.S ORF1
Clones Horizon Source BioScience Horizon Source BioScience Horizon

Symbol legend: Blast sequence    View sequence    Literature or expression images   Hover cursor for info   [+] Expand list
Xenbase: The Xenopus Model Organism Knowledgebase.
Version: 4.14.0
Major funding for Xenbase is provided by grant P41 HD064556