Human Gene BDH2 (ENST00000296424.9) from GENCODE V44
  Description: Homo sapiens 3-hydroxybutyrate dehydrogenase 2 (BDH2), mRNA. (from RefSeq NM_020139)
Gencode Transcript: ENST00000296424.9
Gencode Gene: ENSG00000164039.15
Transcript (Including UTRs)
   Position: hg38 chr4:103,077,592-103,099,834 Size: 22,243 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr4:103,079,702-103,096,254 Size: 16,553 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:103,077,592-103,099,834)mRNA (may differ from genome)Protein (245 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
PubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BDH2_HUMAN
DESCRIPTION: RecName: Full=3-hydroxybutyrate dehydrogenase type 2; EC=1.1.1.-; EC=1.1.1.30; AltName: Full=Dehydrogenase/reductase SDR family member 6; AltName: Full=Oxidoreductase UCPA; AltName: Full=R-beta-hydroxybutyrate dehydrogenase;
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;
PATHWAY: Siderophore biosynthesis.
SUBUNIT: Homotetramer.
SUBCELLULAR LOCATION: Cytoplasm.
SIMILARITY: Belongs to the short-chain dehydrogenases/reductases (SDR) family.

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 54.34 RPKM in Kidney - Cortex
Total median expression: 1029.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.5072-0.174 Picture PostScript Text
3' UTR -513.302110-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002198 - DH_sc/Rdtase_SDR
IPR002347 - Glc/ribitol_DH
IPR016040 - NAD(P)-bd_dom
IPR020904 - Sc_DH/Rdtase_CS

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2AG5 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9BUT1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003858 3-hydroxybutyrate dehydrogenase activity
GO:0016491 oxidoreductase activity
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
GO:0051287 NAD binding

Biological Process:
GO:0006635 fatty acid beta-oxidation
GO:0019290 siderophore biosynthetic process
GO:0030855 epithelial cell differentiation
GO:0042168 heme metabolic process
GO:0046951 ketone body biosynthetic process
GO:0055072 iron ion homeostasis
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  BC095414 - Homo sapiens 3-hydroxybutyrate dehydrogenase, type 2, mRNA (cDNA clone MGC:110919 IMAGE:5284436), complete cds.
JD179490 - Sequence 160514 from Patent EP1572962.
JD029242 - Sequence 10266 from Patent EP1572962.
BC001953 - Homo sapiens 3-hydroxybutyrate dehydrogenase, type 2, mRNA (cDNA clone MGC:4385 IMAGE:2905279), complete cds.
AK300626 - Homo sapiens cDNA FLJ57796 complete cds, highly similar to Dehydrogenase/reductase SDR family member 6 precursor (EC 1.1.-.-).
AF164790 - Homo sapiens oxidoreductase UCPA mRNA, complete cds.
AK023323 - Homo sapiens cDNA FLJ13261 fis, clone OVARC1000885, weakly similar to OXIDOREDUCTASE UCPA (EC 1.-.-.-).
AY358841 - Homo sapiens clone DNA171771 GRLD6308 (UNQ6308) mRNA, complete cds.
AK128463 - Homo sapiens cDNA FLJ46606 fis, clone THYMU3047891, highly similar to Dehydrogenase/reductase SDR family member 6 precursor (EC 1.1.-.-).
BC037277 - Homo sapiens 3-hydroxybutyrate dehydrogenase, type 2, mRNA (cDNA clone MGC:32990 IMAGE:4838679), complete cds.
AK290160 - Homo sapiens cDNA FLJ76235 complete cds, highly similar to Homo sapiens dehydrogenase/reductase (SDR family) member 6 (DHRS6),mRNA.
JD154590 - Sequence 135614 from Patent EP1572962.
JD552095 - Sequence 533119 from Patent EP1572962.
JD292082 - Sequence 273106 from Patent EP1572962.
KJ899262 - Synthetic construct Homo sapiens clone ccsbBroadEn_08656 BDH2 gene, encodes complete protein.
AK291335 - Homo sapiens cDNA FLJ78346 complete cds, highly similar to Homo sapiens 3-hydroxybutyrate dehydrogenase, type 2, mRNA.
CR457309 - Homo sapiens full open reading frame cDNA clone RZPDo834E089D for gene DHRS6, dehydrogenase/reductase (SDR family) member 6; complete cds, incl. stopcodon.
JD526552 - Sequence 507576 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00072 - Synthesis and degradation of ketone bodies
hsa00650 - Butanoate metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY66-367 - ketogenesis
PWY66-368 - ketolysis

Reactome (by CSHL, EBI, and GO)

Protein Q9BUT1 (Reactome details) participates in the following event(s):

R-HSA-5696457 BDH2 dehydrogenates 3HBA
R-HSA-77111 Synthesis of Ketone Bodies
R-HSA-74182 Ketone body metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K295, B4DUF6, BDH2_HUMAN, DHRS6, ENST00000296424.1, ENST00000296424.2, ENST00000296424.3, ENST00000296424.4, ENST00000296424.5, ENST00000296424.6, ENST00000296424.7, ENST00000296424.8, NM_020139, Q503A0, Q6IA46, Q6UWD3, Q9BUT1, Q9H8S8, Q9NRX8, uc003hwz.1, uc003hwz.2, uc003hwz.3, uc003hwz.4, uc003hwz.5, UNQ6308/PRO20933
UCSC ID: ENST00000296424.9
RefSeq Accession: NM_020139
Protein: Q9BUT1 (aka BDH2_HUMAN)
CCDS: CCDS3663.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.