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DBT (dihydrolipoamide branched chain transacylase E2)

Identity

Alias_namesdihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)
Other aliasBCATE2
BCKAD-E2
BCKADE2
BCOADC-E2
E2
E2B
HGNC (Hugo) DBT
LocusID (NCBI) 1629
Atlas_Id 62308
Location 1p21.2  [Link to chromosome band 1p21]
Location_base_pair Starts at 100186922 and ends at 100249853 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HLA-DMA (6p21.32) / DBT (1p21.2)STIM1 (11p15.4) / DBT (1p21.2)

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)DBT   2698
Cards
Entrez_Gene (NCBI)DBT  1629  dihydrolipoamide branched chain transacylase E2
AliasesBCATE2; BCKAD-E2; BCKADE2; BCOADC-E2; 
E2; E2B
GeneCards (Weizmann)DBT
Ensembl hg19 (Hinxton)ENSG00000137992 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137992 [Gene_View]  chr1:100186922-100249853 [Contig_View]  DBT [Vega]
ICGC DataPortalENSG00000137992
TCGA cBioPortalDBT
AceView (NCBI)DBT
Genatlas (Paris)DBT
WikiGenes1629
SOURCE (Princeton)DBT
Genetics Home Reference (NIH)DBT
Genomic and cartography
GoldenPath hg38 (UCSC)DBT  -     chr1:100186922-100249853 -  1p21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DBT  -     1p21.2   [Description]    (hg19-Feb_2009)
EnsemblDBT - 1p21.2 [CytoView hg19]  DBT - 1p21.2 [CytoView hg38]
Mapping of homologs : NCBIDBT [Mapview hg19]  DBT [Mapview hg38]
OMIM248600   248610   
Gene and transcription
Genbank (Entrez)AK024946 AK303941 AK313191 BC016675 BC030002
RefSeq transcript (Entrez)NM_001918
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DBT
Cluster EST : UnigeneHs.709187 [ NCBI ]
CGAP (NCI)Hs.709187
Alternative Splicing GalleryENSG00000137992
Gene ExpressionDBT [ NCBI-GEO ]   DBT [ EBI - ARRAY_EXPRESS ]   DBT [ SEEK ]   DBT [ MEM ]
Gene Expression Viewer (FireBrowse)DBT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1629
GTEX Portal (Tissue expression)DBT
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11182   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP11182  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP11182
Splice isoforms : SwissVarP11182
Catalytic activity : Enzyme2.3.1.168 [ Enzyme-Expasy ]   2.3.1.1682.3.1.168 [ IntEnz-EBI ]   2.3.1.168 [ BRENDA ]   2.3.1.168 [ KEGG ]   
PhosPhoSitePlusP11182
Domaine pattern : Prosite (Expaxy)BIOTINYL_LIPOYL (PS50968)    LIPOYL (PS00189)    PSBD (PS51826)   
Domains : Interpro (EBI)2-oxoA_DH_lipoyl-BS    2-oxoacid_DH_actylTfrase    BCKDC_E2    Biotin_lipoyl    CAT-like_dom    E3-bd    Single_hybrid_motif   
Domain families : Pfam (Sanger)2-oxoacid_dh (PF00198)    Biotin_lipoyl (PF00364)    E3_binding (PF02817)   
Domain families : Pfam (NCBI)pfam00198    pfam00364    pfam02817   
Conserved Domain (NCBI)DBT
DMDM Disease mutations1629
Blocks (Seattle)DBT
PDB (SRS)1K8M    1K8O    1ZWV    2COO    3RNM   
PDB (PDBSum)1K8M    1K8O    1ZWV    2COO    3RNM   
PDB (IMB)1K8M    1K8O    1ZWV    2COO    3RNM   
PDB (RSDB)1K8M    1K8O    1ZWV    2COO    3RNM   
Structural Biology KnowledgeBase1K8M    1K8O    1ZWV    2COO    3RNM   
SCOP (Structural Classification of Proteins)1K8M    1K8O    1ZWV    2COO    3RNM   
CATH (Classification of proteins structures)1K8M    1K8O    1ZWV    2COO    3RNM   
SuperfamilyP11182
Human Protein AtlasENSG00000137992
Peptide AtlasP11182
HPRD02010
IPIIPI00003944   IPI01013727   IPI00644810   
Protein Interaction databases
DIP (DOE-UCLA)P11182
IntAct (EBI)P11182
FunCoupENSG00000137992
BioGRIDDBT
STRING (EMBL)DBT
ZODIACDBT
Ontologies - Pathways
QuickGOP11182
Ontology : AmiGOmitochondrion  mitochondrial matrix  mitochondrial alpha-ketoglutarate dehydrogenase complex  branched-chain amino acid catabolic process  ubiquitin protein ligase binding  mitochondrial nucleoid  dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity  glyoxylate metabolic process  
Ontology : EGO-EBImitochondrion  mitochondrial matrix  mitochondrial alpha-ketoglutarate dehydrogenase complex  branched-chain amino acid catabolic process  ubiquitin protein ligase binding  mitochondrial nucleoid  dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity  glyoxylate metabolic process  
Pathways : KEGGValine, leucine and isoleucine degradation   
NDEx NetworkDBT
Atlas of Cancer Signalling NetworkDBT
Wikipedia pathwaysDBT
Orthology - Evolution
OrthoDB1629
GeneTree (enSembl)ENSG00000137992
Phylogenetic Trees/Animal Genes : TreeFamDBT
HOVERGENP11182
HOGENOMP11182
Homologs : HomoloGeneDBT
Homology/Alignments : Family Browser (UCSC)DBT
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDBT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DBT
dbVarDBT
ClinVarDBT
1000_GenomesDBT 
Exome Variant ServerDBT
ExAC (Exome Aggregation Consortium)DBT (select the gene name)
Genetic variants : HAPMAP1629
Genomic Variants (DGV)DBT [DGVbeta]
DECIPHERDBT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDBT 
Mutations
ICGC Data PortalDBT 
TCGA Data PortalDBT 
Broad Tumor PortalDBT
OASIS PortalDBT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDBT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDBT
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
BioMutasearch DBT
DgiDB (Drug Gene Interaction Database)DBT
DoCM (Curated mutations)DBT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DBT (select a term)
intoGenDBT
Cancer3DDBT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM248600    248610   
Orphanet20169    20168    20171    20170   
MedgenDBT
Genetic Testing Registry DBT
NextProtP11182 [Medical]
TSGene1629
GENETestsDBT
Target ValidationDBT
Huge Navigator DBT [HugePedia]
snp3D : Map Gene to Disease1629
BioCentury BCIQDBT
ClinGenDBT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1629
Chemical/Pharm GKB GenePA27167
Clinical trialDBT
Miscellaneous
canSAR (ICR)DBT (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDBT
EVEXDBT
GoPubMedDBT
iHOPDBT
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 18 13:05:51 CEST 2017

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