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PEX12 (peroxisomal biogenesis factor 12)

Identity

Alias (NCBI)PAF-3
PBD3A
HGNC (Hugo) PEX12
LocusID (NCBI) 5193
Atlas_Id 71836
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 35574795 and ends at 35578571 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)
FLOT2 (17q11.2) / PEX12 (17q12)PEX12 (17q12) / OLFML2A (9q33.3)

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)PEX12   8854
Cards
Entrez_Gene (NCBI)PEX12    peroxisomal biogenesis factor 12
AliasesPAF-3; PBD3A
GeneCards (Weizmann)PEX12
Ensembl hg19 (Hinxton)ENSG00000108733 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108733 [Gene_View]  ENSG00000108733 [Sequence]  chr17:35574795-35578571 [Contig_View]  PEX12 [Vega]
ICGC DataPortalENSG00000108733
TCGA cBioPortalPEX12
AceView (NCBI)PEX12
Genatlas (Paris)PEX12
SOURCE (Princeton)PEX12
Genetics Home Reference (NIH)PEX12
Genomic and cartography
GoldenPath hg38 (UCSC)PEX12  -     chr17:35574795-35578571 -  17q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PEX12  -     17q12   [Description]    (hg19-Feb_2009)
GoldenPathPEX12 - 17q12 [CytoView hg19]  PEX12 - 17q12 [CytoView hg38]
ImmunoBaseENSG00000108733
Genome Data Viewer NCBIPEX12 [Mapview hg19]  
OMIM266510   601758   614859   
Gene and transcription
Genbank (Entrez)AB004546 AI341587 AK312635 BC015751 BC031085
RefSeq transcript (Entrez)NM_000286
Consensus coding sequences : CCDS (NCBI)PEX12
Gene ExpressionPEX12 [ NCBI-GEO ]   PEX12 [ EBI - ARRAY_EXPRESS ]   PEX12 [ SEEK ]   PEX12 [ MEM ]
Gene Expression Viewer (FireBrowse)PEX12 [ Firebrowse - Broad ]
GenevisibleExpression of PEX12 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5193
GTEX Portal (Tissue expression)PEX12
Human Protein AtlasENSG00000108733-PEX12 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00623   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00623  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00623
PhosPhoSitePlusO00623
Domains : Interpro (EBI)PEX12    Pex_N    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)Pex2_Pex12 (PF04757)   
Domain families : Pfam (NCBI)pfam04757   
Conserved Domain (NCBI)PEX12
SuperfamilyO00623
AlphaFold pdb e-kbO00623   
Human Protein Atlas [tissue]ENSG00000108733-PEX12 [tissue]
HPRD03455
Protein Interaction databases
DIP (DOE-UCLA)O00623
IntAct (EBI)O00623
BioGRIDPEX12
STRING (EMBL)PEX12
ZODIACPEX12
Ontologies - Pathways
QuickGOO00623
Ontology : AmiGOubiquitin-protein transferase activity  protein binding  peroxisome  peroxisomal membrane  peroxisomal membrane  integral component of peroxisomal membrane  integral component of peroxisomal membrane  integral component of peroxisomal membrane  cytosol  protein monoubiquitination  protein targeting to peroxisome  peroxisome organization  protein C-terminus binding  protein localization  zinc ion binding  protein import into peroxisome matrix  protein import into peroxisome matrix  protein import into peroxisome matrix  protein ubiquitination  protein import into peroxisome membrane  peroxisomal importomer complex  
Ontology : EGO-EBIubiquitin-protein transferase activity  protein binding  peroxisome  peroxisomal membrane  peroxisomal membrane  integral component of peroxisomal membrane  integral component of peroxisomal membrane  integral component of peroxisomal membrane  cytosol  protein monoubiquitination  protein targeting to peroxisome  peroxisome organization  protein C-terminus binding  protein localization  zinc ion binding  protein import into peroxisome matrix  protein import into peroxisome matrix  protein import into peroxisome matrix  protein ubiquitination  protein import into peroxisome membrane  peroxisomal importomer complex  
NDEx NetworkPEX12
Atlas of Cancer Signalling NetworkPEX12
Wikipedia pathwaysPEX12
Orthology - Evolution
OrthoDB5193
GeneTree (enSembl)ENSG00000108733
Phylogenetic Trees/Animal Genes : TreeFamPEX12
Homologs : HomoloGenePEX12
Homology/Alignments : Family Browser (UCSC)PEX12
Gene fusions - Rearrangements
Fusion : QuiverPEX12
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPEX12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PEX12
dbVarPEX12
ClinVarPEX12
MonarchPEX12
1000_GenomesPEX12 
Exome Variant ServerPEX12
GNOMAD BrowserENSG00000108733
Varsome BrowserPEX12
ACMGPEX12 variants
VarityO00623
Genomic Variants (DGV)PEX12 [DGVbeta]
DECIPHERPEX12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPEX12 
Mutations
ICGC Data PortalPEX12 
TCGA Data PortalPEX12 
Broad Tumor PortalPEX12
OASIS PortalPEX12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPEX12  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPEX12
Mutations and Diseases : HGMDPEX12
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPEX12
DgiDB (Drug Gene Interaction Database)PEX12
DoCM (Curated mutations)PEX12
CIViC (Clinical Interpretations of Variants in Cancer)PEX12
Cancer3DPEX12
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM266510    601758    614859   
Orphanet225    410    5016   
DisGeNETPEX12
MedgenPEX12
Genetic Testing Registry PEX12
NextProtO00623 [Medical]
GENETestsPEX12
Target ValidationPEX12
Huge Navigator PEX12 [HugePedia]
ClinGenPEX12
Clinical trials, drugs, therapy
MyCancerGenomePEX12
Protein Interactions : CTDPEX12
Pharm GKB GenePA33196
PharosO00623
Clinical trialPEX12
Miscellaneous
canSAR (ICR)PEX12
HarmonizomePEX12
DataMed IndexPEX12
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPEX12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:15:55 CEST 2021

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