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UGT2A1 (UDP glucuronosyltransferase family 2 member A1 complex locus)

Identity

Alias_namesUDP glycosyltransferase 2 family, polypeptide A1
UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus
Other aliasUDPGT2A1
HGNC (Hugo) UGT2A1
LocusID (NCBI) 10941
Atlas_Id 53170
Location 4q13.3  [Link to chromosome band 4q13]
Location_base_pair Starts at 69588417 and ends at 69653249 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CCSER1 (4q22.1) / UGT2A1 (4q13.2)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)UGT2A1   12542
Cards
Entrez_Gene (NCBI)UGT2A1  10941  UDP glucuronosyltransferase family 2 member A1 complex locus
AliasesUDPGT2A1
GeneCards (Weizmann)UGT2A1
Ensembl hg19 (Hinxton)ENSG00000173610 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173610 [Gene_View]  chr4:69588417-69653249 [Contig_View]  UGT2A1 [Vega]
ICGC DataPortalENSG00000173610
TCGA cBioPortalUGT2A1
AceView (NCBI)UGT2A1
Genatlas (Paris)UGT2A1
WikiGenes10941
SOURCE (Princeton)UGT2A1
Genetics Home Reference (NIH)UGT2A1
Genomic and cartography
GoldenPath hg38 (UCSC)UGT2A1  -     chr4:69588417-69653249 -  4q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UGT2A1  -     4q13.3   [Description]    (hg19-Feb_2009)
EnsemblUGT2A1 - 4q13.3 [CytoView hg19]  UGT2A1 - 4q13.3 [CytoView hg38]
Mapping of homologs : NCBIUGT2A1 [Mapview hg19]  UGT2A1 [Mapview hg38]
OMIM604716   
Gene and transcription
Genbank (Entrez)AJ006054 AK304249 AK314209 BC142640 BC156239
RefSeq transcript (Entrez)NM_001252274 NM_001252275 NM_001301239 NM_006798
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UGT2A1
Cluster EST : UnigeneHs.225950 [ NCBI ]
CGAP (NCI)Hs.225950
Alternative Splicing GalleryENSG00000173610
Gene ExpressionUGT2A1 [ NCBI-GEO ]   UGT2A1 [ EBI - ARRAY_EXPRESS ]   UGT2A1 [ SEEK ]   UGT2A1 [ MEM ]
Gene Expression Viewer (FireBrowse)UGT2A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10941
GTEX Portal (Tissue expression)UGT2A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y4X1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y4X1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y4X1
Splice isoforms : SwissVarQ9Y4X1
Catalytic activity : Enzyme2.4.1.17 [ Enzyme-Expasy ]   2.4.1.172.4.1.17 [ IntEnz-EBI ]   2.4.1.17 [ BRENDA ]   2.4.1.17 [ KEGG ]   
PhosPhoSitePlusQ9Y4X1
Domaine pattern : Prosite (Expaxy)UDPGT (PS00375)   
Domains : Interpro (EBI)UDP_glucos_trans   
Domain families : Pfam (Sanger)UDPGT (PF00201)   
Domain families : Pfam (NCBI)pfam00201   
Conserved Domain (NCBI)UGT2A1
DMDM Disease mutations10941
Blocks (Seattle)UGT2A1
SuperfamilyQ9Y4X1
Human Protein AtlasENSG00000173610
Peptide AtlasQ9Y4X1
HPRD05279
IPIIPI00966300   IPI00869317   IPI00955955   IPI00965016   IPI00908801   IPI00009556   IPI00965784   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y4X1
IntAct (EBI)Q9Y4X1
FunCoupENSG00000173610
BioGRIDUGT2A1
STRING (EMBL)UGT2A1
ZODIACUGT2A1
Ontologies - Pathways
QuickGOQ9Y4X1
Ontology : AmiGOsensory perception of smell  metabolic process  detection of chemical stimulus  glucuronosyltransferase activity  integral component of membrane  intracellular membrane-bounded organelle  cellular glucuronidation  
Ontology : EGO-EBIsensory perception of smell  metabolic process  detection of chemical stimulus  glucuronosyltransferase activity  integral component of membrane  intracellular membrane-bounded organelle  cellular glucuronidation  
Pathways : KEGG   
NDEx NetworkUGT2A1
Atlas of Cancer Signalling NetworkUGT2A1
Wikipedia pathwaysUGT2A1
Orthology - Evolution
OrthoDB10941
GeneTree (enSembl)ENSG00000173610
Phylogenetic Trees/Animal Genes : TreeFamUGT2A1
HOVERGENQ9Y4X1
HOGENOMQ9Y4X1
Homologs : HomoloGeneUGT2A1
Homology/Alignments : Family Browser (UCSC)UGT2A1
Gene fusions - Rearrangements
Fusion : MitelmanCCSER1/UGT2A1 [4q22.1/4q13.2]  [t(4;4)(q13;q22)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUGT2A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UGT2A1
dbVarUGT2A1
ClinVarUGT2A1
1000_GenomesUGT2A1 
Exome Variant ServerUGT2A1
ExAC (Exome Aggregation Consortium)UGT2A1 (select the gene name)
Genetic variants : HAPMAP10941
Genomic Variants (DGV)UGT2A1 [DGVbeta]
DECIPHERUGT2A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUGT2A1 
Mutations
ICGC Data PortalUGT2A1 
TCGA Data PortalUGT2A1 
Broad Tumor PortalUGT2A1
OASIS PortalUGT2A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUGT2A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUGT2A1
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 UGT2A1
DgiDB (Drug Gene Interaction Database)UGT2A1
DoCM (Curated mutations)UGT2A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UGT2A1 (select a term)
intoGenUGT2A1
Cancer3DUGT2A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604716   
Orphanet
MedgenUGT2A1
Genetic Testing Registry UGT2A1
NextProtQ9Y4X1 [Medical]
TSGene10941
GENETestsUGT2A1
Huge Navigator UGT2A1 [HugePedia]
snp3D : Map Gene to Disease10941
BioCentury BCIQUGT2A1
ClinGenUGT2A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10941
Chemical/Pharm GKB GenePA37184
Clinical trialUGT2A1
Miscellaneous
canSAR (ICR)UGT2A1 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUGT2A1
EVEXUGT2A1
GoPubMedUGT2A1
iHOPUGT2A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:43:17 CEST 2017

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