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UBQLN2 (ubiquilin 2)

Identity

Alias_symbol (synonym)Chap1
Dsk2
RIHFB2157
LIC-2
CHAP1/DSK2
PLIC-2
N4BP4
PLIC2
Other aliasALS15
CHAP1
DSK2
HRIHFB2157
HGNC (Hugo) UBQLN2
LocusID (NCBI) 29978
Atlas_Id 55631
Location Xp11.21  [Link to chromosome band Xp11]
Location_base_pair Starts at 56563593 and ends at 56567010 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
UBQLN2 (Xp11.21) / UBQLN2 (Xp11.21)

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

¼TD>< HPEF=http://www.ncbi.nlm.nih.gov/medgen?term=UBQLN2 TARGET=MEDGEN>UBQLN2
Nomenclature
HGNC (Hugo)UBQLN2   12509
LRG (Locus Reference Genomic)LRG_665
Cards
Entrez_Gene (NCBI)UBQLN2  29978  ubiquilin 2
AliasesALS15; CHAP1; DSK2; HRIHFB2157; 
N4BP4; PLIC2
GeneCards (Weizmann)UBQLN2
Ensembl hg19 (Hinxton)ENSG00000188021 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000188021 [Gene_View]  chrX:56563593-56567010 [Contig_View]  UBQLN2 [Vega]
ICGC DataPortalENSG00000188021
TCGA cBioPortalUBQLN2
AceView (NCBI)UBQLN2
Genatlas (Paris)UBQLN2
WikiGenes29978
SOURCE (Princeton)UBQLN2
Genetics Home Reference (NIH)UBQLN2
Genomic and cartography
GoldenPath hg38 (UCSC)UBQLN2  -     chrX:56563593-56567010 +  Xp11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBQLN2  -     Xp11.21   [Description]    (hg19-Feb_2009)
EnsemblUBQLN2 - Xp11.21 [CytoView hg19]  UBQLN2 - Xp11.21 [CytoView hg38]
Mapping of homologs : NCBIUBQLN2 [Mapview hg19]  UBQLN2 [Mapview hg38]
OMIM300264   300857   
Gene and transcription
Genbank (Entrez)AB015344 AF189009 AF293385 AK001029 AK297252
RefSeq transcript (Entrez)NM_013444
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UBQLN2
Cluster EST : UnigeneHs.179309 [ NCBI ]
CGAP (NCI)Hs.179309
Alternative Splicing GalleryENSG00000188021
Gene ExpressionUBQLN2 [ NCBI-GEO ]   UBQLN2 [ EBI - ARRAY_EXPRESS ]   UBQLN2 [ SEEK ]   UBQLN2 [ MEM ]
Gene Expression Viewer (FireBrowse)UBQLN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29978
GTEX Portal (Tissue expression)UBQLN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHD9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHD9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHD9
Splice isoforms : SwissVarQ9UHD9
PhosPhoSitePlusQ9UHD9
Domaine pattern : Prosite (Expaxy)UBA (PS50030)    UBIQUITIN_2 (PS50053)   
Domains : Interpro (EBI)ARM-type_fold    STI1_HS-bd    UBA    UBA-like    Ubiquilin    Ubiquitin-rel_dom    Ubiquitin_dom   
Domain families : Pfam (Sanger)UBA (PF00627)    ubiquitin (PF00240)   
Domain families : Pfam (NCBI)pfam00627    pfam00240   
Domain families : Smart (EMBL)STI1 (SM00727)  UBA (SM00165)  UBQ (SM00213)  
Conserved Domain (NCBI)UBQLN2
DMDM Disease mutations29978
Blocks (Seattle)UBQLN2
PDB (SRS)1J8C    2NBV   
PDB (PDBSum)1J8C    2NBV   
PDB (IMB)1J8C    2NBV   
PDB (RSDB)1J8C    2NBV   
Structural Biology KnowledgeBase1J8C    2NBV   
SCOP (Structural Classification of Proteins)1J8C    2NBV   
CATH (Classification of proteins structures)1J8C    2NBV   
SuperfamilyQ9UHD9
Human Protein AtlasENSG00000188021
Peptide AtlasQ9UHD9
HPRD02224
IPIIPI00409659   IPI00908495   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHD9
IntAct (EBI)Q9UHD9
FunCoupENSG00000188021
BioGRIDUBQLN2
STRING (EMBL)UBQLN2
ZODIACUBQLN2
Ontologies - Pathways
QuickGOQ9UHD9
Ontology : AmiGOprotein binding  nucleus  cytoplasm  autophagosome  cytosol  cytosol  plasma membrane  autophagy  regulation of macroautophagy  ubiquitin-dependent ERAD pathway  cytoplasmic vesicle  negative regulation of clathrin-dependent endocytosis  positive regulation of ER-associated ubiquitin-dependent protein catabolic process  negative regulation of G-protein coupled receptor internalization  regulation of autophagosome assembly  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  autophagosome  cytosol  cytosol  plasma membrane  autophagy  regulation of macroautophagy  ubiquitin-dependent ERAD pathway  cytoplasmic vesicle  negative regulation of clathrin-dependent endocytosis  positive regulation of ER-associated ubiquitin-dependent protein catabolic process  negative regulation of G-protein coupled receptor internalization  regulation of autophagosome assembly  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkUBQLN2
Atlas of Cancer Signalling NetworkUBQLN2
Wikipedia pathwaysUBQLN2
Orthology - Evolution
OrthoDB29978
GeneTree (enSembl)ENSG00000188021
Phylogenetic Trees/Animal Genes : TreeFamUBQLN2
HOVERGENQ9UHD9
HOGENOMQ9UHD9
Homologs : HomoloGeneUBQLN2
Homology/Alignments : Family Browser (UCSC)UBQLN2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBQLN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBQLN2
dbVarUBQLN2
ClinVarUBQLN2
1000_GenomesUBQLN2 
Exome Variant ServerUBQLN2
ExAC (Exome Aggregation Consortium)UBQLN2 (select the gene name)
Genetic variants : HAPMAP29978
Genomic Variants (DGV)UBQLN2 [DGVbeta]
DECIPHERUBQLN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUBQLN2 
Mutations
ICGC Data PortalUBQLN2 
TCGA Data PortalUBQLN2 
Broad Tumor PortalUBQLN2
OASIS PortalUBQLN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBQLN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUBQLN2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch UBQLN2
DgiDB (Drug Gene Interaction Database)UBQLN2
DoCM (Curated mutations)UBQLN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBQLN2 (select a term)
intoGenUBQLN2
Cancer3DUBQLN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300264    300857   
Orphanet106   
Medgen
Genetic Testing Registry UBQLN2
NextProtQ9UHD9 [Medical]
TSGene29978
GENETestsUBQLN2
Target ValidationUBQLN2
Huge Navigator UBQLN2 [HugePedia]
snp3D : Map Gene to Disease29978
BioCentury BCIQUBQLN2
ClinGenUBQLN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29978
Chemical/Pharm GKB GenePA37156
Clinical trialUBQLN2
Miscellaneous
canSAR (ICR)UBQLN2 (select the gene name)
Probes
Litterature
PubMed71 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBQLN2
EVEXUBQLN2
GoPubMedUBQLN2
iHOPUBQLN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:37:13 CEST 2017

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