Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PMP22 (peripheral myelin protein 22)

Identity

Alias_namesCMT1A
Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)
Alias_symbol (synonym)HNPP
GAS3
Sp110
HMSNIA
Other aliasCIDP
CMT1E
DSS
GAS-3
HGNC (Hugo) PMP22
LocusID (NCBI) 5376
Atlas_Id 41755
Location 17p12  [Link to chromosome band 17p12]
Location_base_pair Starts at 15229777 and ends at 15260844 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BNIP3L (8p21.2) / PMP22 (17p12)DAB1 (1p32.2) / PMP22 (17p12)FABP4 (8q21.13) / PMP22 (17p12)
LOC100507412 (-) / PMP22 (17p12)PMP22 (17p12) / PMP22 (17p12)PMP22 (17p12) / THBS2 (6q27)
TAX1BP3 (17p13.2) / PMP22 (17p12)TAX1BP3 17p13.2 / PMP22 17p12

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]

Solid Tumors TT_t1717p12p13ID102331

External links

Nomenclature
HGNC (Hugo)PMP22   9118
LRG (Locus Reference Genomic)LRG_263
Cards
Entrez_Gene (NCBI)PMP22  5376  peripheral myelin protein 22
AliasesCIDP; CMT1A; CMT1E; DSS; 
GAS-3; GAS3; HMSNIA; HNPP; Sp110
GeneCards (Weizmann)PMP22
Ensembl hg19 (Hinxton)ENSG00000109099 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109099 [Gene_View]  ENSG00000109099 [Sequence]  chr17:15229777-15260844 [Contig_View]  PMP22 [Vega]
ICGC DataPortalENSG00000109099
TCGA cBioPortalPMP22
AceView (NCBI)PMP22
Genatlas (Paris)PMP22
WikiGenes5376
SOURCE (Princeton)PMP22
Genetics Home Reference (NIH)PMP22
Genomic and cartography
GoldenPath hg38 (UCSC)PMP22  -     chr17:15229777-15260844 -  17p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PMP22  -     17p12   [Description]    (hg19-Feb_2009)
GoldenPathPMP22 - 17p12 [CytoView hg19]  PMP22 - 17p12 [CytoView hg38]
ImmunoBaseENSG00000109099
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_001330143 NM_153321 NM_153322
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PMP22
Cluster EST : UnigeneHs.658306 [ NCBI ]
CGAP (NCI)Hs.658306
Alternative Splicing GalleryENSG00000109099
Gene ExpressionPMP22 [ NCBI-GEO ]   PMP22 [ EBI - ARRAY_EXPRESS ]   PMP22 [ SEEK ]   PMP22 [ MEM ]
Gene Expression Viewer (FireBrowse)PMP22 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5376
GTEX Portal (Tissue expression)PMP22
Human Protein AtlasENSG00000109099-PMP22 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01453   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01453  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01453
Splice isoforms : SwissVarQ01453
PhosPhoSitePlusQ01453
Domaine pattern : Prosite (Expaxy)PMP22_1 (PS01221)    PMP22_2 (PS01222)   
Domains : Interpro (EBI)PMP22    PMP22/EMP/MP20/Claudin    PMP22_EMP_MP20   
Domain families : Pfam (Sanger)PMP22_Claudin (PF00822)   
Domain families : Pfam (NCBI)pfam00822   
Conserved Domain (NCBI)PMP22
DMDM Disease mutations5376
Blocks (Seattle)PMP22
SuperfamilyQ01453
Human Protein Atlas [tissue]ENSG00000109099-PMP22 [tissue]
Peptide AtlasQ01453
HPRD03059
IPIIPI00007769   IPI01014241   IPI00789026   
Protein Interaction databases
DIP (DOE-UCLA)Q01453
IntAct (EBI)Q01453
FunCoupENSG00000109099
BioGRIDPMP22
STRING (EMBL)PMP22
ZODIACPMP22
Ontologies - Pathways
QuickGOQ01453
Ontology : AmiGOprotein binding  plasma membrane  plasma membrane  bicellular tight junction  chemical synaptic transmission  peripheral nervous system development  cell death  negative regulation of cell proliferation  negative regulation of neuron projection development  integral component of membrane  bleb assembly  myelin assembly  myelination  compact myelin  
Ontology : EGO-EBIprotein binding  plasma membrane  plasma membrane  bicellular tight junction  chemical synaptic transmission  peripheral nervous system development  cell death  negative regulation of cell proliferation  negative regulation of neuron projection development  integral component of membrane  bleb assembly  myelin assembly  myelination  compact myelin  
NDEx NetworkPMP22
Atlas of Cancer Signalling NetworkPMP22
Wikipedia pathwaysPMP22
Orthology - Evolution
OrthoDB5376
GeneTree (enSembl)ENSG00000109099
Phylogenetic Trees/Animal Genes : TreeFamPMP22
HOGENOMQ01453
Homologs : HomoloGenePMP22
Homology/Alignments : Family Browser (UCSC)PMP22
Gene fusions - Rearrangements
Fusion : MitelmanTAX1BP3/PMP22 [17p13.2/17p12]  [t(17;17)(p12;p13)]  
Fusion PortalTAX1BP3 17p13.2 PMP22 17p12 OV
Fusion : QuiverPMP22
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPMP22 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMP22
dbVarPMP22
ClinVarPMP22
1000_GenomesPMP22 
Exome Variant ServerPMP22
ExAC (Exome Aggregation Consortium)ENSG00000109099
GNOMAD BrowserENSG00000109099
Varsome BrowserPMP22
Genetic variants : HAPMAP5376
Genomic Variants (DGV)PMP22 [DGVbeta]
DECIPHERPMP22 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPMP22 
Mutations
ICGC Data PortalPMP22 
TCGA Data PortalPMP22 
Broad Tumor PortalPMP22
OASIS PortalPMP22 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPMP22  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPMP22
Mutations and Diseases : HGMDPMP22
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
BioMutasearch PMP22
DgiDB (Drug Gene Interaction Database)PMP22
DoCM (Curated mutations)PMP22 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PMP22 (select a term)
intoGenPMP22
Cancer3DPMP22(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118220    118300    139393    145900    162500    180800    601097   
Orphanet192    192    2789    10852    12066    13933    14792   
DisGeNETPMP22
MedgenPMP22
Genetic Testing Registry PMP22
NextProtQ01453 [Medical]
TSGene5376
GENETestsPMP22
Target ValidationPMP22
Huge Navigator PMP22 [HugePedia]
snp3D : Map Gene to Disease5376
BioCentury BCIQPMP22
ClinGenPMP22 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5376
Chemical/Pharm GKB GenePA33444
Clinical trialPMP22
Miscellaneous
canSAR (ICR)PMP22 (select the gene name)
DataMed IndexPMP22
Probes
Litterature
PubMed198 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePMP22
EVEXPMP22
GoPubMedPMP22
iHOPPMP22
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jan 27 15:00:05 CET 2020
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