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PEX13 (peroxisomal biogenesis factor 13)

Identity

Alias_namesperoxisome biogenesis factor 13
Other aliasNALD
PBD11A
PBD11B
ZWS
HGNC (Hugo) PEX13
LocusID (NCBI) 5194
Atlas_Id 71837
Location 2p16.1  [Link to chromosome band 2p16]
Location_base_pair Starts at 61244812 and ends at 61279125 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PEX13 (2p16.1) / CHMP3 (2p11.2)

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)PEX13   8855
Cards
Entrez_Gene (NCBI)PEX13  5194  peroxisomal biogenesis factor 13
AliasesNALD; PBD11A; PBD11B; ZWS
GeneCards (Weizmann)PEX13
Ensembl hg19 (Hinxton)ENSG00000162928 [Gene_View]  chr2:61244812-61279125 [Contig_View]  PEX13 [Vega]
Ensembl hg38 (Hinxton)ENSG00000162928 [Gene_View]  chr2:61244812-61279125 [Contig_View]  PEX13 [Vega]
ICGC DataPortalENSG00000162928
TCGA cBioPortalPEX13
AceView (NCBI)PEX13
Genatlas (Paris)PEX13
WikiGenes5194
SOURCE (Princeton)PEX13
Genetics Home Reference (NIH)PEX13
Genomic and cartography
GoldenPath hg19 (UCSC)PEX13  -     chr2:61244812-61279125 +  2p16.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PEX13  -     2p16.1   [Description]    (hg38-Dec_2013)
EnsemblPEX13 - 2p16.1 [CytoView hg19]  PEX13 - 2p16.1 [CytoView hg38]
Mapping of homologs : NCBIPEX13 [Mapview hg19]  PEX13 [Mapview hg38]
OMIM601789   614883   614885   
Gene and transcription
Genbank (Entrez)AB022192 AF048755 AK311426 AK315244 BC020547
RefSeq transcript (Entrez)NM_002618
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_008665 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)PEX13
Cluster EST : UnigeneHs.161377 [ NCBI ]
CGAP (NCI)Hs.161377
Alternative Splicing GalleryENSG00000162928
Gene ExpressionPEX13 [ NCBI-GEO ]   PEX13 [ EBI - ARRAY_EXPRESS ]   PEX13 [ SEEK ]   PEX13 [ MEM ]
Gene Expression Viewer (FireBrowse)PEX13 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5194
GTEX Portal (Tissue expression)PEX13
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92968   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92968  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92968
Splice isoforms : SwissVarQ92968
PhosPhoSitePlusQ92968
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)Peroxin-13_N    SH3_domain   
Domain families : Pfam (Sanger)Peroxin-13_N (PF04088)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam04088    pfam14604   
Domain families : Smart (EMBL)SH3 (SM00326)  
Conserved Domain (NCBI)PEX13
DMDM Disease mutations5194
Blocks (Seattle)PEX13
SuperfamilyQ92968
Human Protein AtlasENSG00000162928
Peptide AtlasQ92968
HPRD03475
IPIIPI00024348   IPI00892579   IPI00893183   IPI00892970   
Protein Interaction databases
DIP (DOE-UCLA)Q92968
IntAct (EBI)Q92968
FunCoupENSG00000162928
BioGRIDPEX13
STRING (EMBL)PEX13
ZODIACPEX13
Ontologies - Pathways
QuickGOQ92968
Ontology : AmiGOfatty acid alpha-oxidation  neuron migration  suckling behavior  positive regulation of defense response to virus by host  protein binding  peroxisome  peroxisomal membrane  integral component of peroxisomal membrane  locomotory behavior  membrane  protein import into peroxisome matrix, docking  protein import into peroxisome matrix, docking  cerebral cortex cell migration  intracellular membrane-bounded organelle  microtubule-based peroxisome localization  activation of mitophagy in response to mitochondrial depolarization  
Ontology : EGO-EBIfatty acid alpha-oxidation  neuron migration  suckling behavior  positive regulation of defense response to virus by host  protein binding  peroxisome  peroxisomal membrane  integral component of peroxisomal membrane  locomotory behavior  membrane  protein import into peroxisome matrix, docking  protein import into peroxisome matrix, docking  cerebral cortex cell migration  intracellular membrane-bounded organelle  microtubule-based peroxisome localization  activation of mitophagy in response to mitochondrial depolarization  
Pathways : KEGGPeroxisome   
NDEx NetworkPEX13
Atlas of Cancer Signalling NetworkPEX13
Wikipedia pathwaysPEX13
Orthology - Evolution
OrthoDB5194
GeneTree (enSembl)ENSG00000162928
Phylogenetic Trees/Animal Genes : TreeFamPEX13
HOVERGENQ92968
HOGENOMQ92968
Homologs : HomoloGenePEX13
Homology/Alignments : Family Browser (UCSC)PEX13
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPEX13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PEX13
dbVarPEX13
ClinVarPEX13
1000_GenomesPEX13 
Exome Variant ServerPEX13
ExAC (Exome Aggregation Consortium)PEX13 (select the gene name)
Genetic variants : HAPMAP5194
Genomic Variants (DGV)PEX13 [DGVbeta]
DECIPHER (Syndromes)2:61244812-61279125  ENSG00000162928
CONAN: Copy Number AnalysisPEX13 
Mutations
ICGC Data PortalPEX13 
TCGA Data PortalPEX13 
Broad Tumor PortalPEX13
OASIS PortalPEX13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPEX13  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPEX13
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)dbPEX, PEX Gene Database
BioMutasearch PEX13
DgiDB (Drug Gene Interaction Database)PEX13
DoCM (Curated mutations)PEX13 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PEX13 (select a term)
intoGenPEX13
Cancer3DPEX13(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601789    614883    614885   
Orphanet225    410    5016   
MedgenPEX13
Genetic Testing Registry PEX13
NextProtQ92968 [Medical]
TSGene5194
GENETestsPEX13
Huge Navigator PEX13 [HugePedia]
snp3D : Map Gene to Disease5194
BioCentury BCIQPEX13
ClinGenPEX13
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5194
Chemical/Pharm GKB GenePA33197
Clinical trialPEX13
Miscellaneous
canSAR (ICR)PEX13 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePEX13
EVEXPEX13
GoPubMedPEX13
iHOPPEX13
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 12:38:21 CET 2017

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