Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PMP22 (peripheral myelin protein 22)

Identity

Other namesCMT1A
CMT1E
DSS
GAS-3
HMSNIA
HNPP
Sp110
HGNC (Hugo) PMP22
LocusID (NCBI) 5376
Location 17p12
Location_base_pair Starts at 15133094 and ends at 15168674 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)PMP22   9118
Cards
Entrez_Gene (NCBI)PMP22  5376  peripheral myelin protein 22
GeneCards (Weizmann)PMP22
Ensembl hg19 (Hinxton)ENSG00000109099 [Gene_View]  chr17:15133094-15168674 [Contig_View]  PMP22 [Vega]
Ensembl hg38 (Hinxton)ENSG00000109099 [Gene_View]  chr17:15133094-15168674 [Contig_View]  PMP22 [Vega]
ICGC DataPortalENSG00000109099
cBioPortalPMP22
AceView (NCBI)PMP22
Genatlas (Paris)PMP22
WikiGenes5376
SOURCE (Princeton)PMP22
Genomic and cartography
GoldenPath hg19 (UCSC)PMP22  -     chr17:15133094-15168674 -  17p12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PMP22  -     17p12   [Description]    (hg38-Dec_2013)
EnsemblPMP22 - 17p12 [CytoView hg19]  PMP22 - 17p12 [CytoView hg38]
Mapping of homologs : NCBIPMP22 [Mapview hg19]  PMP22 [Mapview hg38]
OMIM118220   118300   139393   145900   162500   180800   601097   
Gene and transcription
Genbank (Entrez)AK290640 AK300690 AL833462 BC019040 BC091499
RefSeq transcript (Entrez)NM_000304 NM_001281455 NM_001281456 NM_153321 NM_153322
RefSeq genomic (Entrez)AC_000149 NC_000017 NC_018928 NG_007949 NT_010718 NW_001838403 NW_004929405
Consensus coding sequences : CCDS (NCBI)PMP22
Cluster EST : UnigeneHs.658306 [ NCBI ]
CGAP (NCI)Hs.658306
Alternative Splicing : Fast-db (Paris)GSHG0013122
Alternative Splicing GalleryENSG00000109099
Gene ExpressionPMP22 [ NCBI-GEO ]     PMP22 [ SEEK ]   PMP22 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01453 (Uniprot)
NextProtQ01453  [Medical]
With graphics : InterProQ01453
Splice isoforms : SwissVarQ01453 (Swissvar)
Domaine pattern : Prosite (Expaxy)PMP22_1 (PS01221)    PMP22_2 (PS01222)   
Domains : Interpro (EBI)PMP22    PMP22/EMP/MP20/Claudin    PMP22_EMP_MP20   
Related proteins : CluSTrQ01453
Domain families : Pfam (Sanger)PMP22_Claudin (PF00822)   
Domain families : Pfam (NCBI)pfam00822   
DMDM Disease mutations5376
Blocks (Seattle)Q01453
Human Protein AtlasENSG00000109099
Peptide AtlasQ01453
HPRD03059
IPIIPI00007769   IPI01014241   IPI00789026   
Protein Interaction databases
DIP (DOE-UCLA)Q01453
IntAct (EBI)Q01453
FunCoupENSG00000109099
BioGRIDPMP22
IntegromeDBPMP22
STRING (EMBL)PMP22
Ontologies - Pathways
QuickGOQ01453
Ontology : AmiGOprotein binding  plasma membrane  tight junction  synaptic transmission  peripheral nervous system development  cell death  negative regulation of cell proliferation  negative regulation of neuron projection development  integral component of membrane  myelin assembly  compact myelin  
Ontology : EGO-EBIprotein binding  plasma membrane  tight junction  synaptic transmission  peripheral nervous system development  cell death  negative regulation of cell proliferation  negative regulation of neuron projection development  integral component of membrane  myelin assembly  compact myelin  
Protein Interaction DatabasePMP22
DoCM (Curated mutations)PMP22
Wikipedia pathwaysPMP22
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPMP22 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMP22
dbVarPMP22
ClinVarPMP22
1000_GenomesPMP22 
Exome Variant ServerPMP22
SNP (GeneSNP Utah)PMP22
SNP : HGBasePMP22
Genetic variants : HAPMAPPMP22
Genomic VariantsPMP22  PMP22 [DGVbeta]
Mutations
ICGC Data PortalENSG00000109099 
Somatic Mutations in Cancer : COSMICPMP22 
CONAN: Copy Number AnalysisPMP22 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:15133094-15168674
Mutations and Diseases : HGMDPMP22
OMIM118220    118300    139393    145900    162500    180800    601097   
MedgenPMP22
NextProtQ01453 [Medical]
GENETestsPMP22
Disease Genetic AssociationPMP22
Huge Navigator PMP22 [HugePedia]  PMP22 [HugeCancerGEM]
snp3D : Map Gene to Disease5376
DGIdb (Drug Gene Interaction db)PMP22
General knowledge
Homologs : HomoloGenePMP22
Homology/Alignments : Family Browser (UCSC)PMP22
Phylogenetic Trees/Animal Genes : TreeFamPMP22
Chemical/Protein Interactions : CTD5376
Chemical/Pharm GKB GenePA33444
Clinical trialPMP22
Cancer Resource (Charite)ENSG00000109099
Other databases
Probes
Litterature
PubMed157 Pubmed reference(s) in Entrez
CoreMinePMP22
GoPubMedPMP22
iHOPPMP22
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:52:45 CET 2014
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