Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PEX2 (peroxisomal biogenesis factor 2)

Identity

Alias_namesPXMP3
peroxisomal membrane protein 3 (35kD, Zellweger syndrome)
peroxisomal membrane protein 3, 35kDa
Alias_symbol (synonym)PMP35
PAF-1
RNF72
ZWS3
Other aliasPAF1
PBD5A
PBD5B
PMP3
HGNC (Hugo) PEX2
LocusID (NCBI) 5828
Atlas_Id 56074
Location 8q21.13  [Link to chromosome band 8q21]
Location_base_pair Starts at 76980258 and ends at 77000288 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)
GNB1 (1p36.33) / PEX2 (8q21.11)PEX2 (8q21.11) / MLX (17q21.2)

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)PEX2   9717
Cards
Entrez_Gene (NCBI)PEX2  5828  peroxisomal biogenesis factor 2
AliasesPAF1; PBD5A; PBD5B; PMP3; 
PMP35; PXMP3; RNF72; ZWS3
GeneCards (Weizmann)PEX2
Ensembl hg19 (Hinxton)ENSG00000164751 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164751 [Gene_View]  chr8:76980258-77000288 [Contig_View]  PEX2 [Vega]
ICGC DataPortalENSG00000164751
TCGA cBioPortalPEX2
AceView (NCBI)PEX2
Genatlas (Paris)PEX2
WikiGenes5828
SOURCE (Princeton)PEX2
Genetics Home Reference (NIH)PEX2
Genomic and cartography
GoldenPath hg38 (UCSC)PEX2  -     chr8:76980258-77000288 -  8q21.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PEX2  -     8q21.13   [Description]    (hg19-Feb_2009)
EnsemblPEX2 - 8q21.13 [CytoView hg19]  PEX2 - 8q21.13 [CytoView hg38]
Mapping of homologs : NCBIPEX2 [Mapview hg19]  PEX2 [Mapview hg38]
OMIM170993   614866   614867   
Gene and transcription
Genbank (Entrez)AK312997 BC000661 BC005375 BC093043 BP193912
RefSeq transcript (Entrez)NM_000318 NM_001079867 NM_001172086 NM_001172087
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PEX2
Cluster EST : UnigeneHs.437966 [ NCBI ]
CGAP (NCI)Hs.437966
Alternative Splicing GalleryENSG00000164751
Gene ExpressionPEX2 [ NCBI-GEO ]   PEX2 [ EBI - ARRAY_EXPRESS ]   PEX2 [ SEEK ]   PEX2 [ MEM ]
Gene Expression Viewer (FireBrowse)PEX2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5828
GTEX Portal (Tissue expression)PEX2
Human Protein AtlasENSG00000164751-PEX2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28328   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28328  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28328
Splice isoforms : SwissVarP28328
PhosPhoSitePlusP28328
Domaine pattern : Prosite (Expaxy)ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)Pex_N    Znf_C3HC4_RING-type    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS   
Domain families : Pfam (Sanger)Pex2_Pex12 (PF04757)    zf-C3HC4 (PF00097)   
Domain families : Pfam (NCBI)pfam04757    pfam00097   
Domain families : Smart (EMBL)RING (SM00184)  
Conserved Domain (NCBI)PEX2
DMDM Disease mutations5828
Blocks (Seattle)PEX2
SuperfamilyP28328
Human Protein Atlas [tissue]ENSG00000164751-PEX2 [tissue]
Peptide AtlasP28328
HPRD01367
IPIIPI00002852   IPI00977327   IPI00978105   
Protein Interaction databases
DIP (DOE-UCLA)P28328
IntAct (EBI)P28328
FunCoupENSG00000164751
BioGRIDPEX2
STRING (EMBL)PEX2
ZODIACPEX2
Ontologies - Pathways
QuickGOP28328
Ontology : AmiGOvery long-chain fatty acid metabolic process  negative regulation of transcription from RNA polymerase II promoter  protein binding  peroxisomal membrane  integral component of peroxisomal membrane  fatty acid beta-oxidation  peroxisome organization  zinc ion binding  membrane  protein import into peroxisome matrix  Cdc73/Paf1 complex  protein destabilization  negative regulation of fibroblast proliferation  negative regulation of epithelial cell proliferation  
Ontology : EGO-EBIvery long-chain fatty acid metabolic process  negative regulation of transcription from RNA polymerase II promoter  protein binding  peroxisomal membrane  integral component of peroxisomal membrane  fatty acid beta-oxidation  peroxisome organization  zinc ion binding  membrane  protein import into peroxisome matrix  Cdc73/Paf1 complex  protein destabilization  negative regulation of fibroblast proliferation  negative regulation of epithelial cell proliferation  
Pathways : KEGGPeroxisome   
NDEx NetworkPEX2
Atlas of Cancer Signalling NetworkPEX2
Wikipedia pathwaysPEX2
Orthology - Evolution
OrthoDB5828
GeneTree (enSembl)ENSG00000164751
Phylogenetic Trees/Animal Genes : TreeFamPEX2
HOVERGENP28328
HOGENOMP28328
Homologs : HomoloGenePEX2
Homology/Alignments : Family Browser (UCSC)PEX2
Gene fusions - Rearrangements
Tumor Fusion PortalPEX2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPEX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PEX2
dbVarPEX2
ClinVarPEX2
1000_GenomesPEX2 
Exome Variant ServerPEX2
ExAC (Exome Aggregation Consortium)ENSG00000164751
GNOMAD BrowserENSG00000164751
Genetic variants : HAPMAP5828
Genomic Variants (DGV)PEX2 [DGVbeta]
DECIPHERPEX2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPEX2 
Mutations
ICGC Data PortalPEX2 
TCGA Data PortalPEX2 
Broad Tumor PortalPEX2
OASIS PortalPEX2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPEX2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPEX2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)dbPEX, PEX Gene Database
BioMutasearch PEX2
DgiDB (Drug Gene Interaction Database)PEX2
DoCM (Curated mutations)PEX2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PEX2 (select a term)
intoGenPEX2
Cancer3DPEX2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM170993    614866    614867   
Orphanet225    410    5016   
DisGeNETPEX2
MedgenPEX2
Genetic Testing Registry PEX2
NextProtP28328 [Medical]
TSGene5828
GENETestsPEX2
Target ValidationPEX2
Huge Navigator PEX2 [HugePedia]
snp3D : Map Gene to Disease5828
BioCentury BCIQPEX2
ClinGenPEX2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5828
Chemical/Pharm GKB GenePA34060
Clinical trialPEX2
Miscellaneous
canSAR (ICR)PEX2 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePEX2
EVEXPEX2
GoPubMedPEX2
iHOPPEX2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:28:25 CET 2017

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