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

DBT Gene

protein-coding   GIFtS: 66
GCID: GC01M100652

Dihydrolipoamide Branched Chain Transacylase E2

(Previous name: dihydrolipoamide branched chain transacylase (E2 component...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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


(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 Gene:
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)

GeneCards Summary for DBT Gene: 
DBT (dihydrolipoamide branched chain transacylase E2) is a protein-coding gene. Diseases associated with DBT include maple syrup urine disease, and maple syrup urine disease type 2, and among its related super-pathways are valine degradation I and Metabolic pathways. GO annotations related to this gene include dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity and cofactor binding. An important paralog of this gene is PDHX.

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). Within this complex, 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

Gene Wiki entry 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
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 plasmidDBT 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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
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

Explore proteomics data for DBT at MOPED 

Post-translational modifications:

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

  • DBT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DBT Protein Expression
    REFSEQ proteins: NP_001909.3  
    ENSEMBL proteins: 
     ENSP00000359151   ENSP00000359150  
    Reactome Protein details: P11182
    Human Recombinant Protein Products for DBT: 
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    Novus Biologicals DBT Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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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    Cloud-Clone Corp. CLIAs for DBT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (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 domains:
    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


    DBT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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). Within this complex, 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
    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

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016746transferase activity, transferring acyl groups ----
    GO:0043754dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity IEA--
    GO:0048037cofactor binding IEA--
         
    DBT for ontologies           About GeneDecksing


    Phenotypes:
         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 

         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

    Animal Models:
         MGI mouse knock-out Dbttm1Geh for DBT

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DBT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DBT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DBT 
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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
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: DBT (NM_001918)
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DBT About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Branched-chain amino acid catabolism
    valine degradation I0.53
    Branched-chain amino acid catabolism0.50
    isoleucine degradation I0.53
    Valine, leucine and isoleucine degradation0.39
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    32-oxobutanoate degradation I
    2-oxobutanoate degradation I0.57
    superpathway of methionine degradation0.37
    2-oxoisovalerate decarboxylation to isobutanoyl-CoA0.57
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for DBT
        2-oxoisovalerate decarboxylation to isobutanoyl-CoA
    isoleucine degradation I
    valine degradation I
    superpathway of methionine degradation
    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)

    5/271 Interacting proteins for DBT (P111822, 3 ENSP000003591514) via UniProtKB, MINT, STRING, and/or I2D (see all 271)
    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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process ----
    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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (ODB2)

    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 inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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)

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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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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DBT

    Additional mRNA 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):

    BU156508 BC016675 C01073 CD251695 BM542879 BP372275 AA872542 AL041515 
    CF139042 BC030002 AL041514 BP353059 AW965095 AI143051 J03208 BI258905 
    BE175668 N87974 BX329381 BF436071 AI744652 BG399461 BP432134 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

    (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)      DBT embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTTTCTCA
    DBT Expression
    About this image


    DBT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/34 selected tissues (see all 34) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             brain/midbrain   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             Double Positive Thymocytes Thymus
             Thymus
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             urinary bladder ; urothelial cells   
             visceral organ   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephros
             kidney ; cells in tubules   

    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

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    (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 common ancestor of eukaryotes.

    Orthologs for DBT gene from 10/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dbt1 , 5 dihydrolipoamide branched chain transacylase E21, 5 84.99(n)1
    87.97(a)1
      3 (50.37 cM)5
    131711  NM_010022.31  NP_034152.21 
     1165130705 
    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
    Uncharacterized protein
    64(a)
    1 ↔ 1
    4(87728564-87747413)
    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 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LAT16
    Dihydrolipoamide acetyltransferase component (E2) ...
    19(a)
    1 → many
    XIV(491523-492971)
    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 


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

    (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


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/1155 SNPs in DBT are shown (see all 1155)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0150994
    Maple syrup urine disease 2 (MSUD2)4--see VAR_0150992 I M mis40--------
    VAR_0049784
    Maple syrup urine disease 2 (MSUD2)4--see VAR_0049782 F C mis40--------
    rs120217201,2,4
    C,F,A,HMaple syrup urine disease 2 (MSUD2)4 pathogenic1100695593(+) CTGACC/TCACAG 2 S G mis1 ese329Minor allele frequency- T:0.13NA EA NS WA CSA EU 8537
    rs1219649991,2
    Cpathogenic1100704013(-) TCATTT/GTGGTT 2 /C /F mis11Minor allele frequency- G:0.00EU 1321
    rs105691701,2
    C--98784773(+) CTTCC-/GT/TG 
            
    TACAG
    1 -- int1 trp31CSA 2
    rs74115841,2
    C,A,H--98798563(+) aataaT/Gaagaa 1 -- int1 trp31Minor allele frequency- G:0.00WA 2
    rs771407541,2
    C--98806025(+) TACAG-/AA    
       T
    /ATA
    ATGTG
    2 -- cds10--------
    rs587634641,2
    C--98806176(+) TTTAG-/ACTAG 
            
    TTACT
    1 -- int11Minor allele frequency- ACTAG:0.00NA 2
    rs105879171,2
    C--98807160(+) AGAGT-/GGGGGGG 1 -- int10--------
    rs557927331,2
    C--98807161(+) AGAGT-/GGGGGGG 1 -- int11Minor allele frequency- GG:0.00NA 2

    HapMap Linkage Disequilibrium report for DBT (100652478 - 100715409 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for DBT:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2715351CNV Deletion23290073
    esv2715329CNV Deletion23290073
    esv2715340CNV Deletion23290073
    esv2715318CNV Deletion23290073
    nsv830804CNV Gain17160897


    Human Gene Mutation Database (HGMD): DBT
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for DBT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 248610   
    OMIM disorders: 248600  
    UniProtKB/Swiss-Prot: ODB2_HUMAN, P11182
  • Maple syrup urine disease 2 (MSUD2) [MIM:248600]: A metabolic disorder due to an enzyme defect in the
    catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3
    amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration.
    Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine.
    The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine
    disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and
    symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after
    birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but
    they still involve developmental delay and other medical problems if not treated. Note=The disease is caused by
    mutations affecting the gene represented in this entry

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

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

    DBT for disorders           About GeneDecksing

    2 Novoseek inferred 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
    GeneReviews: DBT
    Genetic Association Database (GAD): DBT
    Human Genome Epidemiology (HuGE) Navigator: DBT (1 document)

    Export disorders for DBT gene to outside databases

    (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 111):
    (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. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    7. 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)
    8. 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)
    9. 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)
    10. 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)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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