Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PXMP2 (peroxisomal membrane protein 2, 22kDa)

Identity

Alias_namesperoxisomal membrane protein 2 (22kD)
peroxisomal membrane protein 2, 22kDa
Alias_symbol (synonym)PMP22
Other alias
HGNC (Hugo) PXMP2
LocusID (NCBI) 5827
Atlas_Id 72420
Location 12q24.33  [Link to chromosome band 12q24]
Location_base_pair Starts at 133264192 and ends at 133281577 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)PXMP2   9716
Cards
Entrez_Gene (NCBI)PXMP2  5827  peroxisomal membrane protein 2, 22kDa
AliasesPMP22
GeneCards (Weizmann)PXMP2
Ensembl hg19 (Hinxton)ENSG00000176894 [Gene_View]  chr12:133264192-133281577 [Contig_View]  PXMP2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000176894 [Gene_View]  chr12:133264192-133281577 [Contig_View]  PXMP2 [Vega]
ICGC DataPortalENSG00000176894
TCGA cBioPortalPXMP2
AceView (NCBI)PXMP2
Genatlas (Paris)PXMP2
WikiGenes5827
SOURCE (Princeton)PXMP2
Genetics Home Reference (NIH)PXMP2
Genomic and cartography
GoldenPath hg19 (UCSC)PXMP2  -     chr12:133264192-133281577 +  12q24.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PXMP2  -     12q24.33   [Description]    (hg38-Dec_2013)
EnsemblPXMP2 - 12q24.33 [CytoView hg19]  PXMP2 - 12q24.33 [CytoView hg38]
Mapping of homologs : NCBIPXMP2 [Mapview hg19]  PXMP2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF250136 AY044439 BC009836 BC073997
RefSeq transcript (Entrez)NM_018663
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_024477 NW_004929387
Consensus coding sequences : CCDS (NCBI)PXMP2
Cluster EST : UnigeneHs.430299 [ NCBI ]
CGAP (NCI)Hs.430299
Alternative Splicing GalleryENSG00000176894
Gene ExpressionPXMP2 [ NCBI-GEO ]   PXMP2 [ EBI - ARRAY_EXPRESS ]   PXMP2 [ SEEK ]   PXMP2 [ MEM ]
Gene Expression Viewer (FireBrowse)PXMP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5827
GTEX Portal (Tissue expression)PXMP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NR77   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NR77  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NR77
Splice isoforms : SwissVarQ9NR77
PhosPhoSitePlusQ9NR77
Domains : Interpro (EBI)Mpv17_PMP22   
Domain families : Pfam (Sanger)Mpv17_PMP22 (PF04117)   
Domain families : Pfam (NCBI)pfam04117   
Conserved Domain (NCBI)PXMP2
DMDM Disease mutations5827
Blocks (Seattle)PXMP2
SuperfamilyQ9NR77
Human Protein AtlasENSG00000176894
Peptide AtlasQ9NR77
HPRD10176
IPIIPI00221002   IPI00816039   IPI00797733   IPI01013626   IPI00796440   IPI01010917   
Protein Interaction databases
DIP (DOE-UCLA)Q9NR77
IntAct (EBI)Q9NR77
FunCoupENSG00000176894
BioGRIDPXMP2
STRING (EMBL)PXMP2
ZODIACPXMP2
Ontologies - Pathways
QuickGOQ9NR77
Ontology : AmiGOprotein binding  cytoplasm  mitochondrion  peroxisomal membrane  biological_process  membrane  integral component of membrane  protein complex  
Ontology : EGO-EBIprotein binding  cytoplasm  mitochondrion  peroxisomal membrane  biological_process  membrane  integral component of membrane  protein complex  
Pathways : KEGGPeroxisome   
NDEx NetworkPXMP2
Atlas of Cancer Signalling NetworkPXMP2
Wikipedia pathwaysPXMP2
Orthology - Evolution
OrthoDB5827
GeneTree (enSembl)ENSG00000176894
Phylogenetic Trees/Animal Genes : TreeFamPXMP2
HOVERGENQ9NR77
HOGENOMQ9NR77
Homologs : HomoloGenePXMP2
Homology/Alignments : Family Browser (UCSC)PXMP2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPXMP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PXMP2
dbVarPXMP2
ClinVarPXMP2
1000_GenomesPXMP2 
Exome Variant ServerPXMP2
ExAC (Exome Aggregation Consortium)PXMP2 (select the gene name)
Genetic variants : HAPMAP5827
Genomic Variants (DGV)PXMP2 [DGVbeta]
DECIPHER (Syndromes)12:133264192-133281577  ENSG00000176894
CONAN: Copy Number AnalysisPXMP2 
Mutations
ICGC Data PortalPXMP2 
TCGA Data PortalPXMP2 
Broad Tumor PortalPXMP2
OASIS PortalPXMP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPXMP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPXMP2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PXMP2
DgiDB (Drug Gene Interaction Database)PXMP2
DoCM (Curated mutations)PXMP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PXMP2 (select a term)
intoGenPXMP2
Cancer3DPXMP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenPXMP2
Genetic Testing Registry PXMP2
NextProtQ9NR77 [Medical]
TSGene5827
GENETestsPXMP2
Huge Navigator PXMP2 [HugePedia]
snp3D : Map Gene to Disease5827
BioCentury BCIQPXMP2
ClinGenPXMP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5827
Chemical/Pharm GKB GenePA34059
Clinical trialPXMP2
Miscellaneous
canSAR (ICR)PXMP2 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePXMP2
EVEXPXMP2
GoPubMedPXMP2
iHOPPXMP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:40:19 CET 2017

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