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BDH2 Gene

protein-coding   GIFtS: 56
GCID: GC04M103998

3-Hydroxybutyrate Dehydrogenase, Type 2

(Previous name: dehydrogenase/reductase (SDR family) member 6)
(Previous symbol: DHRS6)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
3-Hydroxybutyrate Dehydrogenase, Type 21 2     EFA6R2
DHRS61 2 3     PRO209332
Dehydrogenase/Reductase (SDR Family) Member 61 2     SDR15C12
Dehydrogenase/Reductase SDR Family Member 62 3     UCPA-OR2
Oxidoreductase UCPA2 3     UNQ63082
R-Beta-Hydroxybutyrate Dehydrogenase2 3     Short Chain Dehydrogenase/Reductase Family 15C, Member 12
Member 11     EC 1.1.1.-3
Short Chain Dehydrogenase/Reductase Family 15C1     EC 1.1.1.303
3-Hydroxybutyrate Dehydrogenase Type 22     

External Ids:    HGNC: 323891   Entrez Gene: 568982   Ensembl: ENSG000001640397   UniProtKB: Q9BUT13   

Export aliases for BDH2 gene to outside databases

Previous GC identifers: GC04M104359 GC04M104218 GC04M099732


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for BDH2 Gene:
BDH2 (3-hydroxybutyrate dehydrogenase, type 2) is a protein-coding gene. GO annotations related to this gene include NAD binding and 3-hydroxybutyrate dehydrogenase activity. An important paralog of this gene is HPGD.

UniProtKB/Swiss-Prot: BDH2_HUMAN, Q9BUT1
Function: Dehydrogenase that mediates the formation of 2,5-dihydroxybenzoic acid (2,5-DHBA), a siderophore that
shares structural similarities with bacterial enterobactin and associates with LCN2, thereby playing a key role
in iron homeostasis and transport. Also acts as a 3-hydroxybutyrate dehydrogenase (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BDH2 gene promoter:
         TBP   Olf-1   IRF-1   FOXL1   AREB6   IRF-2   SRY   Nkx6-1   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBDH2 promoter sequence
   Search Chromatin IP Primers for BDH2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BDH2


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

Entrez Gene cytogenetic band: 4q24   Ensembl cytogenetic band:  4q24   HGNC cytogenetic band: 4q24

BDH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BDH2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M103998:  view genomic region     (about GC identifiers)

Start:
103,998,782 bp from pter      End:
104,021,040 bp from pter
Size:
22,259 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BDH2_HUMAN, Q9BUT1 (See protein sequence)
Recommended Name: 3-hydroxybutyrate dehydrogenase type 2  
Size: 245 amino acids; 26724 Da
Subunit: Homotetramer
1 PDB 3D structure from and Proteopedia for BDH2:
2AG5 (3D)    
Secondary accessions: A8K295 B4DUF6 Q503A0 Q6IA46 Q6UWD3 Q9H8S8 Q9NRX8
Alternative splicing: 3 isoforms:  Q9BUT1-1   Q9BUT1-2   Q9BUT1-3   

Explore the universe of human proteins at neXtProt for BDH2: NX_Q9BUT1

Explore proteomics data for BDH2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys48, Lys159
  • Modification sites at PhosphoSitePlus

  • See BDH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_064524.3  
    ENSEMBL proteins: 
     ENSP00000296424   ENSP00000424173   ENSP00000421516   ENSP00000427442   ENSP00000422891  

    BDH2 Human Recombinant Protein Products:

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    Novus Biologicals BDH2 Proteins
    Novus Biologicals BDH2 Lysates
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    ProSpec Recombinant Protein for BDH2
    Cloud-Clone Corp. Proteins for BDH2

     
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    antibodies-online proteins for BDH2 (16 products) 

     
    antibodies-online peptides for BDH2

    BDH2 Antibody Products:

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    antibodies-online antibodies for BDH2 (19 products) 

    BDH2 Assay Products:

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    Search eBioscience for ELISAs for BDH2 
    antibodies-online kits for BDH2 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SDRC1: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1

    4 InterPro protein domains:
     IPR020904 Sc_DH/Rdtase_CS
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9BUT1

    ProtoNet protein and cluster: Q9BUT1

    2 Blocks protein domains:
    IPB002198 Short-chain dehydrogenase/reductase SDR
    IPB002347 Glucose/ribitol dehydrogenase family signature


    UniProtKB/Swiss-Prot: BDH2_HUMAN, Q9BUT1
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    Find genes that share domains with BDH2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BDH2_HUMAN, Q9BUT1
    Function: Dehydrogenase that mediates the formation of 2,5-dihydroxybenzoic acid (2,5-DHBA), a siderophore that
    shares structural similarities with bacterial enterobactin and associates with LCN2, thereby playing a key role
    in iron homeostasis and transport. Also acts as a 3-hydroxybutyrate dehydrogenase (By similarity)
    Catalytic activity: (R)-3-hydroxybutanoate + NAD(+) = acetoacetate + NADH
    Biophysicochemical properties: Kinetic parameters: KM=60 uM for NAD; KM=10 mM for R-hydroxybutyrate; Vmax=82
    nmol/min/mg enzyme (at 30 degrees Celsius); pH dependence: Optimum pH is 7.5-9.0;

         Enzyme Numbers (IUBMB): EC 1.1.1.301 EC 1.1.1.-1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038583-hydroxybutyrate dehydrogenase activity IDA16380372
    GO:00086672,3-dihydro-2,3-dihydroxybenzoate dehydrogenase activity ----
    GO:0016491oxidoreductase activity ----
    GO:0016628oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor ISS--
    GO:0051287NAD binding IDA16380372
         
    Find genes that share ontologies with BDH2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for BDH2

    miRNA
    Products:
        
    miRTarBase miRNAs that target BDH2:
    hsa-mir-766-3p (MIRT039022), hsa-mir-375 (MIRT019992), hsa-mir-21-5p (MIRT031043), hsa-mir-346 (MIRT004219)

    Block miRNA regulation of human, mouse, rat BDH2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BDH2 (see all 12):
    hsa-miR-1178 hsa-miR-548am hsa-miR-4311 hsa-miR-4318 hsa-miR-4297 hsa-miR-4282 hsa-miR-548l hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidBDH2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BDH2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: BDH2 (NM_020139)
    Sino Biological Human cDNA Clone for BDH2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BDH2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BDH2
    Addgene plasmids for BDH2 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BDH2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BDH2_HUMAN, Q9BUT1: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    mitochondrion2
    endoplasmic reticulum1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA16380372
    GO:0005739NOT mitochondrion IDA16380372
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with BDH2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for BDH2 About    
    See pathways by source

    SuperPathContained pathways About
    1Butanoate metabolism
    Butanoate metabolism
    Synthesis and degradation of ketone bodies0.00
    2Synthesis and Degradation of Ketone Bodies
    ketolysis0.43
    3Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with BDH2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for BDH2
        ketolysis



    3 Kegg Pathways  (Kegg details for BDH2):
        Synthesis and degradation of ketone bodies
    Butanoate metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: BDH2_HUMAN, Q9BUT1
    Pathway: Siderophore biosynthesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BDH2: 

              Fatty Acid Metabolism in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for BDH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for BDH2 (ENSP000002964244) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OXCT1ENSP000001963714STRING: ENSP00000196371
    AACSENSP000003248424STRING: ENSP00000324842
    HMGCLENSP000003636144STRING: ENSP00000363614
    OXCT2ENSP000003619144STRING: ENSP00000361914
    BDH1ENSP000003509144STRING: ENSP00000350914
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation IDA16380372
    GO:0008152metabolic process ----
    GO:0019290siderophore biosynthetic process ISS--
    GO:0030855epithelial cell differentiation IDA--
    GO:0042168heme metabolic process ISS--

    Find genes that share ontologies with BDH2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BDH2

    6 HMDB Compounds for BDH2    About this table
    CompoundSynonyms CAS #PubMed Ids
    (R)-3-Hydroxybutyric acid(R)-(-)-b-Hydroxybutyrate (see all 20)625-72-9--
    (S)-3-Hydroxybutyric acid(S)-3-hydroxy-Butanoic acid (see all 25)6168-83-8--
    3-Hydroxybutyric acid3-OH-butyric acid (see all 27)300-85-6--
    Acetoacetic acid3-Ketobutyrate (see all 9)541-50-4--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BDH2 gene: 
    NM_020139.3  

    Unigene Cluster for BDH2:

    3-hydroxybutyrate dehydrogenase, type 2
    Hs.124696  [show with all ESTs]
    Unigene Representative Sequence: NM_020139
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296424(uc003hwz.3) ENST00000492366 ENST00000464039 ENST00000475058
    ENST00000506521 ENST00000511354 ENST00000504285 ENST00000509245 ENST00000513518

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate BDH2 (see all 12):
    hsa-miR-1178 hsa-miR-548am hsa-miR-4311 hsa-miR-4318 hsa-miR-4297 hsa-miR-4282 hsa-miR-548l hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidBDH2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat BDH2
      QuantiFast Probe-based Assays in human, mouse, rat BDH2

    Additional mRNA sequence: 

    AF164790.1 AK023323.1 AK128463.1 AK290160.1 AK291335.1 AK300626.1 AY358841.1 BC001953.1 
    BC037277.2 BC095414.1 CR457309.1 

    Selected DOTS entries (see all 26):

    DT.100809859  DT.95185359  DT.418705  DT.451650  DT.121253064  DT.100809860  DT.121252834  DT.121253007 
    DT.100761636  DT.121253151  DT.121253234  DT.121364875  DT.91861883  DT.92326978  DT.102824113  DT.91702012 
    DT.97791685  DT.121252797  DT.91837485  DT.91910021  DT.100809858  DT.100809867  DT.121253075  DT.97858719 

    Selected AceView cDNA sequences (see all 305):

    BU688215 AA780044 AL697825 BI523629 BQ575352 BM981274 CR625169 AI348041 
    AI942223 AL555621 AK023323 CR601062 BQ011492 BM560338 BP341786 BU682310 
    NM_020139 BQ922202 AA910599 BQ575493 N58822 BQ641853 BX111001 CR599040 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BDH2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BDH2 Expression
    About this image


    BDH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Kidney (Urinary System)    fully expand to see all 6 entries
             Loop of Henle Cells Loop of Henle
             Metanephros
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Epithelial Cells
             Loop of Henle Cells Loop of Henle
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    BDH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BDH2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.124696
        Pathway & Disease-focused RT2 Profiler PCR Arrays including BDH2: 
              Fatty Acid Metabolism in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for BDH2
    OriGene qSTAR qPCR primer pairs in human, mouse for BDH2
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    QuantiTect SYBR Green Assays in human, mouse, rat BDH2
    QuantiFast Probe-based Assays in human, mouse, rat BDH2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BDH2

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for BDH2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bdh21 , 5 3-hydroxybutyrate dehydrogenase, type 21, 5 85.31(n)1
    90.61(a)1
      3 (62.55 cM)5
    697721  NM_001172055.11  NP_001165526.11 
     1352812215 
    chicken
    (Gallus gallus)
    Aves BDH21 3-hydroxybutyrate dehydrogenase, type 2 76.73(n)
    80(a)
      422715  XM_420669.4  XP_420669.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    15(a)
    many ↔ many
    2(181507173-181574286)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.166322 Transcribed sequence with weak similarity to protein more 75.71(n)    BX740093.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.155842 Transcribed sequence with moderate similarity to protein more 78.31(n)    BM184141.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G267601 AT3G26760 45.94(n)
    35.71(a)
      822289  NM_113588.2  NP_189311.2 


    ENSEMBL Gene Tree for BDH2 (if available)
    TreeFam Gene Tree for BDH2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BDH2 gene
    HPGD2  DCXR2  DECR22  CBR42  PECR2  HSD17B142  DHRS22  HSD17B102  
    DHRS42  DHRS4L22  HSD17B82  DECR12  
    10 SIMAP similar genes for BDH2 using alignment to 6 protein entries:     BDH2_HUMAN (see all proteins):
    SLC9B2    RDH13    DCXR    DHRS4    CBR4    HSD17B8
    DHRS2    HPGD    HSD17B4    HSD17B14

    Find genes that share paralogs with BDH2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BDH2 (see all 412)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1894051081,2
    --104000275(+) ATCCTA/CACCTG 1 -- ut310--------
    rs1146900291,2
    C,F--104000355(+) AGGATT/CAGTGT 1 -- ut311Minor allele frequency- C:0.03WA 118
    rs1809900791,2
    --104000382(+) ATGAGC/TGCTCG 1 -- ut310--------
    rs76660671,2
    C,F,A,H--104000498(+) TTGCAC/TTTCCT 1 -- ut3119Minor allele frequency- T:0.13NS EA NA WA 2342
    rs1401156201,2
    C--104000566(+) TGTTAC/TAGCAG 1 -- ut310--------
    rs1838807771,2
    C--104000586(+) ACTAAA/GACAGA 1 -- ut310--------
    rs715971411,2
    C,F--104000628(+) ATTCTC/TCTGCT 1 -- ut312Minor allele frequency- T:0.50NA 4
    rs125033991,2
    C,H--104000853(+) AGATCC/TTAAAA 1 -- ut311Minor allele frequency- T:0.00NA 2
    rs561242211,2
    C--104000908(+) CATAAA/GCAGA 2 A V mis10--------
    rs125082691,2
    C,F,H--104000922(+) AGTGAT/CAAACA 1 -- int120Minor allele frequency- C:0.11NS EA NA EU 3651

    HapMap Linkage Disequilibrium report for BDH2 (103998782 - 104021040 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BDH2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830021CNV Loss17160897
    dgv1656e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with BDH2           About GenesLikeMe

    Genetic Association Database (GAD): BDH2
    Human Genome Epidemiology (HuGE) Navigator: BDH2 (1 document)

    Export disorders for BDH2 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)
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    PubMed articles for BDH2 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with BDH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of human DHRS6, an orphan short chain dehydrogenase/reductase enzyme: a novel, cytosolic type 2 R-beta- hydroxybutyrate dehydrogenase. (PubMed id 16380372)1, 2, 3 Guo K....Oppermann U. (J. Biol. Chem. 2006)
    2. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (Hum. Mol. Genet. 2010)
    3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (Chem. Biol. Interact. 2009)
    4. 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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    7. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    8. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    10. Siderophore-mediated iron trafficking in humans is regulated by iron. (PubMed id 22527885)1 Liu Z....Devireddy L. (J. Mol. Med. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 56898 HGNC: 32389 AceView: DHRS6 Ensembl:ENSG00000164039 euGenes: HUgn56898
    ECgene: BDH2 Kegg: 56898 H-InvDB: BDH2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BDH2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BDH2 gene:
    Search GeneIP for patents involving BDH2

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



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