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UBA2 (ubiquitin like modifier activating enzyme 2)

Identity

Alias_namesubiquitin-activating enzyme E1 homolog (yeast)
SAE2
Alias_symbol (synonym)FLJ13058
HRIHFB2115
ARX
Other alias
HGNC (Hugo) UBA2
LocusID (NCBI) 10054
Atlas_Id 52587
Location 19q13.11  [Link to chromosome band 19q13]
Location_base_pair Starts at 34428363 and ends at 34469893 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)
CCNL2 (1p36.33) / UBA2 (19q13.11)NUMA1 (11q13.4) / UBA2 (19q13.11)UBA2 (19q13.11) / GPI (19q13.11)
UBA2 (19q13.11) / HS2ST1 (1p22.3)UBA2 (19q13.11) / PDCD2L (19q13.11)UBA2 (19q13.11) / SFTPB (2p11.2)
UBA2 (19q13.11) / WTIP (19q13.11)ZNF800 (7q31.33) / UBA2 (19q13.11)NUMA1 11q13.4 / UBA2 19q13.11
UBA2 19q13.11 / PDCD2L 19q13.11

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)UBA2   30661
Cards
Entrez_Gene (NCBI)UBA2  10054  ubiquitin like modifier activating enzyme 2
AliasesARX; HRIHFB2115; SAE2
GeneCards (Weizmann)UBA2
Ensembl hg19 (Hinxton)ENSG00000126261 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126261 [Gene_View]  chr19:34428363-34469893 [Contig_View]  UBA2 [Vega]
ICGC DataPortalENSG00000126261
TCGA cBioPortalUBA2
AceView (NCBI)UBA2
Genatlas (Paris)UBA2
WikiGenes10054
SOURCE (Princeton)UBA2
Genetics Home Reference (NIH)UBA2
Genomic and cartography
GoldenPath hg38 (UCSC)UBA2  -     chr19:34428363-34469893 +  19q13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBA2  -     19q13.11   [Description]    (hg19-Feb_2009)
EnsemblUBA2 - 19q13.11 [CytoView hg19]  UBA2 - 19q13.11 [CytoView hg38]
Mapping of homologs : NCBIUBA2 [Mapview hg19]  UBA2 [Mapview hg38]
OMIM613295   
Gene and transcription
Genbank (Entrez)AB015337 AB208872 AF079566 AF090384 AF110957
RefSeq transcript (Entrez)NM_005499
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UBA2
Cluster EST : UnigeneHs.631580 [ NCBI ]
CGAP (NCI)Hs.631580
Alternative Splicing GalleryENSG00000126261
Gene ExpressionUBA2 [ NCBI-GEO ]   UBA2 [ EBI - ARRAY_EXPRESS ]   UBA2 [ SEEK ]   UBA2 [ MEM ]
Gene Expression Viewer (FireBrowse)UBA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10054
GTEX Portal (Tissue expression)UBA2
Human Protein AtlasENSG00000126261-UBA2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBT2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBT2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBT2
Splice isoforms : SwissVarQ9UBT2
Catalytic activity : Enzyme6.3.2.- [ Enzyme-Expasy ]   6.3.2.-6.3.2.- [ IntEnz-EBI ]   6.3.2.- [ BRENDA ]   6.3.2.- [ KEGG ]   
PhosPhoSitePlusQ9UBT2
Domaine pattern : Prosite (Expaxy)UBIQUITIN_ACTIVAT_1 (PS00536)    UBIQUITIN_ACTIVAT_2 (PS00865)   
Domains : Interpro (EBI)NAD(P)-bd_dom    SAE2/Uba2    ThiF_NAD_FAD-bd    UAE_UbL_dom    UBA2_C    UBA_E1_Cys    UBQ-activ_enz_E1_CS    UBQ-activ_enz_E1_Cys_AS   
Domain families : Pfam (Sanger)ThiF (PF00899)    UAE_UbL (PF14732)    UBA2_C (PF16195)   
Domain families : Pfam (NCBI)pfam00899    pfam14732    pfam16195   
Conserved Domain (NCBI)UBA2
DMDM Disease mutations10054
Blocks (Seattle)UBA2
PDB (SRS)1Y8Q    1Y8R    2PX9    3KYC    3KYD    4W5V    5FQ2   
PDB (PDBSum)1Y8Q    1Y8R    2PX9    3KYC    3KYD    4W5V    5FQ2   
PDB (IMB)1Y8Q    1Y8R    2PX9    3KYC    3KYD    4W5V    5FQ2   
PDB (RSDB)1Y8Q    1Y8R    2PX9    3KYC    3KYD    4W5V    5FQ2   
Structural Biology KnowledgeBase1Y8Q    1Y8R    2PX9    3KYC    3KYD    4W5V    5FQ2   
SCOP (Structural Classification of Proteins)1Y8Q    1Y8R    2PX9    3KYC    3KYD    4W5V    5FQ2   
CATH (Classification of proteins structures)1Y8Q    1Y8R    2PX9    3KYC    3KYD    4W5V    5FQ2   
SuperfamilyQ9UBT2
Human Protein Atlas [tissue]ENSG00000126261-UBA2 [tissue]
Peptide AtlasQ9UBT2
HPRD11658
IPIIPI00023234   IPI00984022   IPI01010514   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBT2
IntAct (EBI)Q9UBT2
FunCoupENSG00000126261
BioGRIDUBA2
STRING (EMBL)UBA2
ZODIACUBA2
Ontologies - Pathways
QuickGOQ9UBT2
Ontology : AmiGOmagnesium ion binding  protein binding  ATP binding  nucleoplasm  nucleoplasm  cytoplasm  enzyme activator activity  transcription factor binding  protein sumoylation  protein sumoylation  protein sumoylation  protein sumoylation  SUMO activating enzyme activity  SUMO activating enzyme activity  SUMO activating enzyme complex  SUMO binding  positive regulation of catalytic activity  small protein activating enzyme binding  ubiquitin-like protein conjugating enzyme binding  protein heterodimerization activity  protein heterodimerization activity  
Ontology : EGO-EBImagnesium ion binding  protein binding  ATP binding  nucleoplasm  nucleoplasm  cytoplasm  enzyme activator activity  transcription factor binding  protein sumoylation  protein sumoylation  protein sumoylation  protein sumoylation  SUMO activating enzyme activity  SUMO activating enzyme activity  SUMO activating enzyme complex  SUMO binding  positive regulation of catalytic activity  small protein activating enzyme binding  ubiquitin-like protein conjugating enzyme binding  protein heterodimerization activity  protein heterodimerization activity  
Pathways : BIOCARTABasic Mechanisms of SUMOylation [Genes]    ER?associated degradation (ERAD) Pathway [Genes]    SUMOylation as a mechanism to modulate CtBP-dependent gene responses [Genes]   
Pathways : KEGGUbiquitin mediated proteolysis   
NDEx NetworkUBA2
Atlas of Cancer Signalling NetworkUBA2
Wikipedia pathwaysUBA2
Orthology - Evolution
OrthoDB10054
GeneTree (enSembl)ENSG00000126261
Phylogenetic Trees/Animal Genes : TreeFamUBA2
HOVERGENQ9UBT2
HOGENOMQ9UBT2
Homologs : HomoloGeneUBA2
Homology/Alignments : Family Browser (UCSC)UBA2
Gene fusions - Rearrangements
Fusion : MitelmanNUMA1/UBA2 [11q13.4/19q13.11]  [t(11;19)(q13;q13)]  
Fusion : MitelmanUBA2/PDCD2L [19q13.11/19q13.11]  [t(19;19)(q13;q13)]  
Fusion: TCGA_MDACCNUMA1 11q13.4 UBA2 19q13.11 LGG
Fusion: TCGA_MDACCUBA2 19q13.11 PDCD2L 19q13.11 OV
Tumor Fusion PortalUBA2
Fusion Cancer (Beijing)UBA2 [19q13.11]  -  SFTPB [2p11.2]  [FUSC002787]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBA2
dbVarUBA2
ClinVarUBA2
1000_GenomesUBA2 
Exome Variant ServerUBA2
ExAC (Exome Aggregation Consortium)ENSG00000126261
GNOMAD BrowserENSG00000126261
Genetic variants : HAPMAP10054
Genomic Variants (DGV)UBA2 [DGVbeta]
DECIPHERUBA2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUBA2 
Mutations
ICGC Data PortalUBA2 
TCGA Data PortalUBA2 
Broad Tumor PortalUBA2
OASIS PortalUBA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBA2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUBA2
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
BioMutasearch UBA2
DgiDB (Drug Gene Interaction Database)UBA2
DoCM (Curated mutations)UBA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBA2 (select a term)
intoGenUBA2
Cancer3DUBA2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613295   
Orphanet
DisGeNETUBA2
MedgenUBA2
Genetic Testing Registry UBA2
NextProtQ9UBT2 [Medical]
TSGene10054
GENETestsUBA2
Target ValidationUBA2
Huge Navigator UBA2 [HugePedia]
snp3D : Map Gene to Disease10054
BioCentury BCIQUBA2
ClinGenUBA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10054
Chemical/Pharm GKB GenePA162407583
Clinical trialUBA2
Miscellaneous
canSAR (ICR)UBA2 (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBA2
EVEXUBA2
GoPubMedUBA2
iHOPUBA2
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 14:40:23 CET 2017

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