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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DBT Gene

protein-coding   GIFtS: 62
GCID: GC01M100652

dihydrolipoamide branched chain transacylase E2

(Previous name: dihydrolipoamide branched chain transacylase (E2 component...)
 Explore 17 diseases affiliated with
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Biological research products
for DBT    

Aliases
for DBT gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Dihydrolipoamide Branched Chain Transacylase E21 2     BCKAD E2 Subunit2
BCATE22 3 5     Branched Chain Acyltransferase, E2 Component2
Branched-Chain Alpha-Keto Acid Dehydrogenase Complex Component E22 3     Dihydrolipoyl Transacylase2
Dihydrolipoamide Acetyltransferase Component Of Branched-Chain Alpha-Keto Acid
Dehydrogenase Complex2 3
     E2 Component Of Branched Chain Alpha-Keto Acid Dehydrogenase Complex2
Dihydrolipoyllysine-Residue (2-Methylpropanoyl)Transferase2 3     Lipoamide Acyltransferase Component Of Branched-Chain Alpha-Keto Acid
Dehydrogenase Complex, Mitochondrial2
BCKAD-E22 3     Lipoamide Acyltransferase Component Of Mitochondrial Branched-Chain Alpha-Keto
Acid Dehydrogenase Complex2
BCKADE22 3     Mitochondrial Branched Chain Alpha-Keto Acid Dehydrogenase Transacylase Subunit
(E2b)2
Dihydrolipoamide Branched Chain Transacylase (E2 Component Of Branched Chain
Keto Acid Dehydrogenase Complex; Maple Syrup Urine Disease)1
     EC 2.3.1.1683
E22     Dihydrolipoamide Branched Chain Transacylase3
E2B2     

External Ids:    HGNC: 26981   Entrez Gene: 16292   Ensembl: ENSG000001379927   OMIM: 2486105   UniProtKB: P111823   

Export aliases for DBT gene to outside databases

Previous GC identifers: GC01M101450 GC01M099840 GC01M099950 GC01M100122 GC01M100371 GC01M098775


Summaries
for DBT gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DBT:
The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in
the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be
composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and
regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup
urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity
has not been determined. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ODB2_HUMAN, P11182
Function: The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to
acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid
decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3)

Gene Wiki entry for DBT


Genomic Views
for DBT gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DBT gene promoter:
         AP-2rep   HTF   p300   HNF-4alpha2   AP-4   HNF-1A   GATA-6   HNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DBT promoter sequence
   Search SABiosciences Chromatin IP Primers for DBT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DBT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p31   Ensembl cytogenetic band:  1p21.2   HGNC cytogenetic band: 1p31

DBT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DBT gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M100652:  view genomic region     (about GC identifiers)

Start:
 100,652,478 bp from pter      End:
 100,715,409 bp from pter
Size:
 62,932 bases      Orientation:
 minus strand

Proteins
for DBT gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ODB2_HUMAN, P11182 (See protein sequence)
Recommended Name: Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex,
mitochondrial precursor  
Size: 482 amino acids; 53487 Da
Cofactor: Binds 1 lipoyl cofactor covalently
Subunit: Forms a 24-polypeptide structural core with octahedral symmetry
Subcellular location: Mitochondrion matrix
Miscellaneous: The catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are
generated by the branched-chain alpha-keto acid decarboxylase component
Sequence caution: Sequence=AAA35589.1; Type=Erroneous initiation; Sequence=AAA64512.1; Type=Erroneous initiation;
5 PDB 3D structures from and Proteopedia for DBT:
1K8M (3D)        1K8O (3D)        1ZWV (3D)        2COO (3D)        3RNM (3D)    
Secondary accessions: B2R811 Q5VVL8

Explore the universe of human proteins at neXtProt for DBT: NX_P11182

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P11182

    • DBT Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001909.3  
    ENSEMBL proteins: 
     ENSP00000359151   ENSP00000359150  
    Reactome Protein details: P11182
    Human Recombinant Protein Products: 
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    OriGene Purified Protein: DBT
    OriGene Protein Over-expression Lysate: DBT
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    Browse Sino Biological Recombinant Proteins
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    Uscn Proteins for DBT

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--
    GO:0005947mitochondrial alpha-ketoglutarate dehydrogenase complex TAS1429740
    GO:0015630microtubule cytoskeleton IDA--


    DBT for ontologies           About GeneDecksing



    DBT Antibody Products: 
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    Uscn ELISAs and CLIAs for DBT

    Protein Domains /
    Families
    for DBT gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DBT for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR004167 E3-bd
     IPR000089 Biotin_lipoyl
     IPR015761 Lip_Acyl_TA
     IPR003016 2-oxoA_DH_lipoyl-BS
     IPR001078 2-oxoacid_DH_actylTfrase

    Graphical View of Domain Structure for InterPro Entry P11182

    ProtoNet protein and cluster: P11182

    4 Blocks protein families:
    IPB000089 Biotin/lipoyl attachment
    IPB001078 Catalytic domain of components of various dehydrogenase complexes
    IPB003016 2-oxo acid dehydrogenase
    IPB004167 E3 binding domain


    UniProtKB/Swiss-Prot: ODB2_HUMAN, P11182
    Similarity: Belongs to the 2-oxoacid dehydrogenase family
    Similarity: Contains 1 lipoyl-binding domain


    Function
    for DBT gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ODB2_HUMAN, P11182
    Function: The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to
    acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid
    decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3)
    Catalytic activity: 2-methylpropanoyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme
    N(6)-(S-(2-methylpropanoyl)dihydrolipoyl)lysine

         Genatlas biochemistry entry for DBT:
    branched chain keto acid dehydrogenase complex,E2 component (dihydrolipoamide branched chain transacylase),inner
    mitochondrial membrane

    Enzyme Number (IUBMB): EC 2.3.1.1681

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DBT
    8/77 QIAGEN miScript miRNA Assays for microRNAs that regulate DBT (see all 77):
    hsa-miR-3678-3p hsa-miR-579 hsa-miR-631 hsa-miR-578 hsa-miR-3653 hsa-miR-4325 hsa-miR-29a* hsa-miR-4293
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DBT (see all 7)
    OriGene shRNA RFP: DBT
    OriGene siRNA: DBT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DBT

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for DBT

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DBT (see all 3)
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    Cell Line
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    Search LifeMap BioReagents cell lines for DBT

    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043754dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity IEA--
    GO:0048037cofactor binding IEA--


    DBT for ontologies           About GeneDecksing


    5 GenomeRNAi human phenotypes for DBT:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Decreased number of cells in m 
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Dbttm1Geh for DBT
         6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Dbt):
     behavior/neurological  homeostasis/metabolism  integument  mortality/aging  renal/urinary system 
     respiratory system 

    DBT for phenotypes           About GeneDecksing


    Pathways & Interactions
    for DBT gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Branched-chain amino acid catabolism
    		Branched-chain amino acid catabolism1.00
    		isoleucine degradation I0.41
    		valine degradation I0.48
    		Valine, leucine and isoleucine degradation0.39
    22-oxoisovalerate decarboxylation to isobutanoyl-CoA
    		2-oxoisovalerate decarboxylation to isobutanoyl-CoA1.00
    		2-oxobutanoate degradation I0.57
    3Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    4Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    5pyruvate decarboxylation to acetyl CoA
    		pyruvate decarboxylation to acetyl CoA1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/6 BioSystems Pathways for DBT (see all 6) 
        pyruvate decarboxylation to acetyl CoA
    2-oxoisovalerate decarboxylation to isobutanoyl-CoA
    isoleucine degradation I
    valine degradation I
    2-oxobutanoate degradation I

    3        Reactome Pathways for DBT
        Metabolism
    Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism


    2         Kegg Pathways  (Kegg details for DBT):
        Valine, leucine and isoleucine degradation
    Metabolic pathways


    DBT for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DBT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/257 Interacting proteins for DBT (P111822, 3 ENSP000003591514) via UniProtKB, MINT, STRING, and/or I2D (see all 257)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFRSF1BP203332, 3MINT-49375 I2D: score=2 
    ADI1Q9BV573, ENSP000003336664I2D: score=2 STRING: ENSP00000333666
    AGO3Q9H9G73, ENSP000003622874I2D: score=2 STRING: ENSP00000362287
    USP16Q9Y5T53, ENSP000003348084I2D: score=2 STRING: ENSP00000334808
    SRRM2Q9UQ353, ENSP000003017404I2D: score=1 STRING: ENSP00000301740
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009083branched-chain amino acid catabolic process TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0046949fatty-acyl-CoA biosynthetic process IEA--


    DBT for ontologies           About GeneDecksing



    Drugs & Compounds
    for DBT gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DBT for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DBT

    10/38 HMDB Compounds for DBT (see all 38)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--
    10/14 Novoseek chemical compound relationships for DBT gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydrolipoamide 81.4 10 17314104 (1), 18206651 (1), 18533943 (1), 2004553 (1) (see all 6)
    lysophospholipid 68.7 2 15944408 (1)
    mcat 61.9 2 17604051 (1), 16112872 (1)
    arachidonic acid 56.4 8 1799879 (1), 19969040 (1), 1915836 (1), 15052324 (1) (see all 8)
    fatty acid 54.1 3 16112872 (1), 11525380 (1), 15944408 (1)
    phospholipid 52.3 4 15052324 (1), 19416646 (1), 8463317 (1), 11525380 (1)
    quinacrine 48.5 1 2111711 (1)
    pyruvate 43.9 11 9242632 (2), 19361580 (1), 9619647 (1), 2010537 (1) (see all 6)
    lysophosphatidylcholine 34.7 1 7931340 (1)
    n-ethylmaleimide 27.9 1 7931340 (1)

    Search CenterWatch for drugs/clinical trials and news about DBT / ODB2 

    Transcripts
    for DBT gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for DBT gene: 
    NM_001918.3  

    Unigene Cluster for DBT:

    Dihydrolipoamide branched chain transacylase E2
    Hs.709187  [show with all ESTs]
    Unigene Representative Sequence: NM_001918
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370132(uc001dta.3 uc010oug.2) ENST00000370131(uc021oqo.1)


    miRNA
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    hsa-miR-3678-3p hsa-miR-579 hsa-miR-631 hsa-miR-578 hsa-miR-3653 hsa-miR-4325 hsa-miR-29a* hsa-miR-4293
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    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DBT

    Additional cDNA sequence: 

    AK024946.1 AK313191.1 BC016675.1 BC030002.1 BT007372.1 J03208.1 M19301.1 M27093.1 
    X57677.1 X66785.1 

    10 DOTS entries:

    DT.203263  DT.412512  DT.100729322  DT.100809024  DT.300636  DT.91756865  DT.92066752  DT.97793134 
    DT.99980376  DT.40226816 

    24/68 AceView cDNA sequences (see all 68):

    AL041515 BC016675 C01073 BP372275 BC030002 AL041514 BU156508 CD251695 
    BM542879 AA872542 CF139042 BI258905 N87974 BX329381 BE175668 BG399461 
    X66785 AL598493 CB267580 M19301 BT007372 AW965095 AI143051 BE387006 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for DBT    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11
    SP1:                                                  -           -                     
    SP2:                                                                                    


    ECgene alternative splicing isoforms for DBT

    Expression
    for DBT gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DBT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTTTTCTCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See DBT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DBT

    SOURCE GeneReport for Unigene cluster: Hs.709187
        SABiosciences Expression via Pathway-Focused PCR Arrays including DBT: 
              Amino Acid Metabolism II in human mouse rat
              Amino Acid Metabolism I in human mouse rat

    Primer
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    Orthologs
    for DBT gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for DBT gene from 9/34 species (see all 34)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves DBT1 dihydrolipoamide branched chain transacylase E2 76.28(n)
    76.97(a)    		   395374  NM_204656.1  NP_989987.1 
    lizard
    (Anolis carolinensis)    		 Reptilia DBT6
    		 --
    		 66(a)
    		 1 ↔ 1
    		 4(87728564-87743723)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.322582 Xenopus laevis transcribed sequence with weak similarity more 76.41(n)    CA973700.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.136492 Transcribed sequence with moderate similarity to protein more 72.36(n)    CA473905.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG55991 , 3 dihydrolipoamide branched chain
    acyltransferase3
    CG55991    		 50(a)3
    54.6(n)1
    53.48(a)1    		   13A103
    324411  NM_132772.21  NP_573000.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea ZK669.41 , 3 lipoamide acyltransferase3
    Protein ZK669.41    		 54(a)3
    57.42(n)1
    56.93(a)1    		   II(7942802-7945099)3
    1742791  NM_063269.41  NP_495670.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons BCE21 2-oxoisovalerate dehydrogenase E2 component (dihydrolipoyl more 53.32(n)
    42.51(a)    		   819869  NM_111565.5  NP_187341.1 
    rice
    (Oryza sativa)    		 Liliopsida Os01g03141001 hypothetical protein 52.99(n)
    42.72(a)    		   4327289  NM_001049405.1  NP_001042870.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria aceF6
    		 pyruvate dehydrogenase, dihydrolipoyltransacetylas...
    		 19(a)
    		 1 ↔ 1
    		 Chromosome(125695-127587)


    ENSEMBL Gene Tree for DBT (if available)
    TreeFam Gene Tree for DBT (if available) 

    Paralogs
    for DBT gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DBT gene
    PDHX2  DLAT2  

    DBT for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DBT
    PGOHUM00000237727


    Genomic Variants
    for DBT gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/963 NCBI SNPs in DBT are shown (see all 963)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219649991,2
    		Cpathogenic105656858(-) TCATTT/GTGGTT 2 /C /F mis11Minor allele frequency- G:0.00EU 1321
    rs797522011,2
    		C,F,--98775417(+) AAAGAT/CAGTTC 1 -- ut311Minor allele frequency- C:0.03EA 120
    rs727281601,2
    		C,F,--98775458(+) AATCAG/AANNNN 1 -- ut311Minor allele frequency- A:0.20NA 120
    rs610934301,2
    		--98775558(+) AAAACA/CAAAAA 1 -- ut310--------
    rs1135360221,2
    		C,--98775563(+) AAAAAG/ACAATA 1 -- ut311Minor allele frequency- A:0.50WA 2
    rs775876291,2
    		C,F,--98775596(+) AGAAAT/CGGCAC 1 -- ut311Minor allele frequency- C:0.02WA 118
    rs729737461,2
    		C,--98775687(+) GCACTG/ACTTTT 1 -- ut311Minor allele frequency- A:0.50WA 2
    rs120855501,2
    		C,H--98776284(+) CACTAA/GAGGAC 1 -- ut316Minor allele frequency- G:0.00NS EA NA 418
    rs729737471,2
    		C,--98777893(+) GAGCAC/ATGGGG 1 -- ut313Minor allele frequency- A:0.11WA CSA 121
    rs1154422451,2
    		C,F,--98778620(+) NNNNGT/CCTGGA 1 -- ut311Minor allele frequency- C:0.03NA 120

    HapMap Linkage Disequilibrium report for DBT (100652478 - 100715409 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DBT: --
    Human Gene Mutation Database (HGMD): DBT

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    Disorders / Diseases
    for DBT gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DBT for disorders           About GeneDecksing

    OMIM gene information: 248610   
    OMIM disorders: 248600  
    UniProtKB/Swiss-Prot: ODB2_HUMAN, P11182
  • Defects in DBT are the cause of maple syrup urine disease type 2 (MSUD2) [MIM:248600]. MSUD is an autosomal
    • recessive disorder characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the
    urine

    17 diseases for DBT:    About MalaCards
    maple syrup urine disease    maple syrup urine disease type 2    primary biliary cirrhosis    barth syndrome
    atrophy of testis    dilated cardiomyopathy    rubella    autoimmune hepatitis
    cardiomyopathy    migraine    tuberculosis    obesity
    hepatitis    pneumonia    malaria    mycobacterium tuberculosis
    alcoholism

    2 diseases from the University of Copenhagen DISEASES database for DBT:
    Atrophy of testis     Maple syrup urine disease

    2 Novoseek disease relationships for DBT gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    maple syrup urine disease 92.9 15 8430702 (2), 14508502 (1), 16786533 (1), 17922217 (1) (see all 9)
    tuberculosis 0 2 17604051 (1), 16112872 (1)

    Genatlas disease: DBT
    maple syrup urine disease

    GeneTests: DBT
    Maple Syrup Urine Disease

    Genetic Association Database (GAD): DBT
    Human Genome Epidemiology (HuGE) Navigator: DBT (1 document)

    Export disorders for DBT gene to outside databases

    Publications
    for DBT gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DBT gene, integrated from 9 sources (see all 108):
    (articles sorted by number of sources associating them with DBT)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene. (PubMed id 1429740)1, 2, 3, 9 Lau K.S....Chuang D.T. (1992)
    2. The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex. (PubMed id 1420314)1, 2, 3, 9 Lau K.S....Chuang D.T. (1992)
    3. A 17-bp insertion and a Phe215-->Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34. (PubMed id 1847055)1, 2, 9 Fisher C.W.... Chuang D.T. (1991)
    4. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex. (PubMed id 9621512)1, 2, 9 Tsuruta M.... Indo Y. (1998)
    5. Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex. (PubMed id 11839747)1, 2, 9 Chang C.-F.... Huang T.-H. (2002)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N- terminal proline in the rat sequence. (PubMed id 7918575)1, 2 Wynn R.M.... Chuang D.T. (1994)
    8. Construction and nucleotide sequence of a cDNA encoding the full- length preprotein for human branched chain acyltransferase. (PubMed id 2708389)1, 2 Danner D.J.... Pruckler J. (1989)
    9. Complete primary structure of the transacylase (E2b) subunit of the human branched chain alpha-keto acid dehydrogenase complex. (PubMed id 2742576)1, 2 Nobukuni Y.... Matsuda I. (1989)
    10. Conservation of primary structure in the lipoyl-bearing and dihydrolipoyl dehydrogenase binding domains of mammalian branched- chain alpha-keto acid dehydrogenase complex: molecular cloning of human and bovine transacylase (E2) cDNAs. (PubMed id 2837277)1, 2 Lau K.S.... Chuang D.T. (1988)

    External Searches for DBT gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DBT gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1629 HGNC: 2698 AceView: DBT Ensembl:ENSG00000137992 euGenes: HUgn1629
    ECgene: DBT Kegg: 1629 H-InvDB: DBT

    Other Databases showing DBT gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DBT gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DBT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DBT

    Intellectual Property
    for DBT gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for DBT gene:
    Search GeneIP for patents involving DBT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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