Aliases for BDH2 Gene

Aliases for BDH2 Gene

  • 3-Hydroxybutyrate Dehydrogenase 2 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 15C Member 1 3 4
  • Dehydrogenase/Reductase SDR Family Member 6 3 4
  • 3-Hydroxybutyrate Dehydrogenase, Type 2 2 3
  • 3-Hydroxybutyrate Dehydrogenase Type 2 3 4
  • R-Beta-Hydroxybutyrate Dehydrogenase 3 4
  • Oxidoreductase UCPA 3 4
  • SDR15C1 3 4
  • DHRS6 3 4
  • Short Chain Dehydrogenase/Reductase Family 15C, Member 1 2
  • Dehydrogenase/Reductase (SDR Family) Member 6 2
  • EC 1.1.1.30 4
  • EC 1.1.1.- 4
  • PRO20933 3
  • UCPA-OR 3
  • UNQ6308 3
  • EFA6R 3

External Ids for BDH2 Gene

Previous HGNC Symbols for BDH2 Gene

  • DHRS6

Previous GeneCards Identifiers for BDH2 Gene

  • GC04M104359
  • GC04M104218
  • GC04M103998
  • GC04M099732

Summaries for BDH2 Gene

GeneCards Summary for BDH2 Gene

BDH2 (3-Hydroxybutyrate Dehydrogenase 2) is a Protein Coding gene. Among its related pathways are Ketone body metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor.

UniProtKB/Swiss-Prot Summary for BDH2 Gene

  • 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 assimilation and homeostasis. Plays a role in susceptibility to bacterial infection by providing an assimilable source of iron that is exploited by pathogenic bacteria (By similarity). Also acts as a 3-hydroxybutyrate dehydrogenase (PubMed:16380372).

Additional gene information for BDH2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BDH2 Gene

Genomics for BDH2 Gene

GeneHancer (GH) Regulatory Elements for BDH2 Gene

Promoters and enhancers for BDH2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J103096 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 544.7 +1.2 1217 3.6 ZNF217 CTCF POLR2G SIX5 TEAD4 POLR2A MYC RAD21 TRIM22 TEAD1 BDH2 lnc-CENPE-1 SLC9B2
GH04J103082 Promoter 0.3 EPDnew 500.4 +17.7 17710 0.1 BDH2 lnc-BDH2-1 SLC9B2
GH04J103100 Enhancer 0.3 Ensembl 500.7 -1.0 -1031 0.2 THRB BDH2 lnc-CENPE-1 KRT8P46 lnc-BDH2-3
GH04J103197 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 28.4 -98.1 -98130 2.8 FOXK2 ZNF217 EP300 SIN3A NRF1 USF1 POLR2G SP1 NCOR1 BCLAF1 CENPE BDH2 KRT8P46 lnc-BDH2-5
GH04J103074 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.5 +23.8 23774 3 FOXK2 SIN3A MYC NRF1 POLR2G NCOR1 PHF8 ZFX ZIC2 KDM6A lnc-BDH2-1 lnc-BDH2-2 SLC9B2 NFKB1 UBE2D3 BDH2 lnc-SLC9B1-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BDH2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BDH2

Top Transcription factor binding sites by QIAGEN in the BDH2 gene promoter:
  • AREB6
  • FOXL1
  • IRF-1
  • IRF-2
  • Nkx6-1
  • Olf-1
  • SRY
  • TBP
  • TFIID

Genomic Locations for BDH2 Gene

Genomic Locations for BDH2 Gene
chr4:103,077,592-103,099,870
(GRCh38/hg38)
Size:
22,279 bases
Orientation:
Minus strand
chr4:103,998,782-104,021,040
(GRCh37/hg19)
Size:
22,259 bases
Orientation:
Minus strand

Genomic View for BDH2 Gene

Genes around BDH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BDH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BDH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BDH2 Gene

Proteins for BDH2 Gene

  • Protein details for BDH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUT1-BDH2_HUMAN
    Recommended name:
    3-hydroxybutyrate dehydrogenase type 2
    Protein Accession:
    Q9BUT1
    Secondary Accessions:
    • A8K295
    • B4DUF6
    • Q503A0
    • Q6IA46
    • Q6UWD3
    • Q9H8S8
    • Q9NRX8

    Protein attributes for BDH2 Gene

    Size:
    245 amino acids
    Molecular mass:
    26724 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for BDH2 Gene

    Alternative splice isoforms for BDH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BDH2 Gene

Post-translational modifications for BDH2 Gene

  • Ubiquitination at Lys48 and Lys159
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BDH2 Gene

Domains & Families for BDH2 Gene

Gene Families for BDH2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for BDH2 Gene

Blocks:
  • Short-chain dehydrogenase/reductase SDR
  • Glucose/ribitol dehydrogenase family signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BDH2 Gene

GenScript: Design optimal peptide antigens:
  • R-beta-hydroxybutyrate dehydrogenase (BDH2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BUT1

UniProtKB/Swiss-Prot:

BDH2_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with BDH2: view

Function for BDH2 Gene

Molecular function for BDH2 Gene

UniProtKB/Swiss-Prot 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 assimilation and homeostasis. Plays a role in susceptibility to bacterial infection by providing an assimilable source of iron that is exploited by pathogenic bacteria (By similarity). Also acts as a 3-hydroxybutyrate dehydrogenase (PubMed:16380372).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R)-3-hydroxybutanoate + NAD(+) = acetoacetate + H(+) + NADH; Xref=Rhea:RHEA:20521, ChEBI:CHEBI:10983, ChEBI:CHEBI:13705, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.30; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=60 uM for NAD {ECO:0000269 PubMed:16380372}; KM=10 mM for R-hydroxybutyrate {ECO:0000269 PubMed:16380372}; Vmax=82 nmol/min/mg enzyme (at 30 degrees Celsius) {ECO:0000269 PubMed:16380372}; pH dependence: Optimum pH is 7.5-9.0. {ECO:0000269 PubMed:16380372};
UniProtKB/Swiss-Prot Induction:
Induced by low iron levels, and down-regulated by elevated iron levels.

Enzyme Numbers (IUBMB) for BDH2 Gene

Phenotypes From GWAS Catalog for BDH2 Gene

Gene Ontology (GO) - Molecular Function for BDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003858 3-hydroxybutyrate dehydrogenase activity IDA 16380372
GO:0008667 2,3-dihydro-2,3-dihydroxybenzoate dehydrogenase activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor ISS --
GO:0051287 NAD binding IDA 16380372
genes like me logo Genes that share ontologies with BDH2: view
genes like me logo Genes that share phenotypes with BDH2: view

Animal Models for BDH2 Gene

MGI Knock Outs for BDH2:
  • Bdh2 Bdh2<tm1a(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for BDH2

CRISPR Products

miRNA for BDH2 Gene

Clone Products

  • Addgene plasmids for BDH2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BDH2 Gene

Localization for BDH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BDH2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BDH2 gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 16380372
GO:0005739 NOT mitochondrion IDA 16380372
GO:0005829 cytosol IDA,TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with BDH2: view

Pathways & Interactions for BDH2 Gene

genes like me logo Genes that share pathways with BDH2: view

UniProtKB/Swiss-Prot Q9BUT1-BDH2_HUMAN

  • Pathway: Siderophore biosynthesis.

Gene Ontology (GO) - Biological Process for BDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006635 fatty acid beta-oxidation IDA 16380372
GO:0019290 siderophore biosynthetic process ISS,IEA --
GO:0030855 epithelial cell differentiation IDA 21492153
GO:0042168 heme metabolic process ISS --
GO:0046951 ketone body biosynthetic process TAS --
genes like me logo Genes that share ontologies with BDH2: view

No data available for SIGNOR curated interactions for BDH2 Gene

Drugs & Compounds for BDH2 Gene

(3) Drugs for BDH2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra 0
Acetoacetic acid Experimental Pharma 0
NAD Experimental Pharma Full agonist, Agonist, Activator 0

(4) Additional Compounds for BDH2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(R)-3-Hydroxybutyric acid
  • (R)-(-)-beta-Hydroxybutyric acid
  • (R)-3-Hydroxybutanoic acid
  • 3-D-Hydroxybutyric acid
  • D-3-Hydroxybutyric acid
  • (R)-(-)-b-Hydroxybutyrate
625-72-9
(S)-3-Hydroxybutyric acid
  • (+)-3-Hydroxybutyric acid
  • (3S)-3-Hydroxybutyric acid
  • (S)-3-Hydroxybutanoic acid
  • (S)-3Hb
  • (S)-beta-Hydroxybutyric acid
6168-83-8
3-Hydroxybutyric acid
  • (1)-3-Hydroxybutyric acid
  • 3 HBA
  • 3-Hydroxybuttersaeure
  • 3-OH-Butyric acid
  • beta-Hydroxy-N-butyric acid
300-85-6
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with BDH2: view

Transcripts for BDH2 Gene

mRNA/cDNA for BDH2 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for BDH2

Alternative Splicing Database (ASD) splice patterns (SP) for BDH2 Gene

No ASD Table

Relevant External Links for BDH2 Gene

GeneLoc Exon Structure for
BDH2

Expression for BDH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BDH2 Gene

Protein differential expression in normal tissues from HIPED for BDH2 Gene

This gene is overexpressed in Kidney (10.2) and Uterus (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BDH2 Gene



Protein tissue co-expression partners for BDH2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BDH2

SOURCE GeneReport for Unigene cluster for BDH2 Gene:

Hs.124696

mRNA Expression by UniProt/SwissProt for BDH2 Gene:

Q9BUT1-BDH2_HUMAN
Tissue specificity: Detected in liver (at protein level).

Evidence on tissue expression from TISSUES for BDH2 Gene

  • Nervous system(4.9)
  • Skin(4.2)
  • Kidney(2.6)
  • Lung(2.5)
genes like me logo Genes that share expression patterns with BDH2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BDH2 Gene

Orthologs for BDH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BDH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BDH2 30
  • 99.59 (n)
-- 31
  • 96 (a)
OneToMany
-- 31
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia BDH2 31 30
  • 90.2 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BDH2 31 30
  • 89.52 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bdh2 30
  • 86.12 (n)
mouse
(Mus musculus)
Mammalia Bdh2 17 31 30
  • 85.31 (n)
oppossum
(Monodelphis domestica)
Mammalia BDH2 31
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BDH2 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves BDH2 31 30
  • 76.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 15 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bdh2 30
  • 74.83 (n)
Str.16632 30
zebrafish
(Danio rerio)
Actinopterygii bdh2 31 30
  • 72.79 (n)
OneToOne
Dr.15584 30
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G26760 30
  • 45.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 65 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02480 30
  • 48.37 (n)
Species where no ortholog for BDH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BDH2 Gene

ENSEMBL:
Gene Tree for BDH2 (if available)
TreeFam:
Gene Tree for BDH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BDH2: view image

Paralogs for BDH2 Gene

(10) SIMAP similar genes for BDH2 Gene using alignment to 6 proteins:

  • BDH2_HUMAN
  • D6R9U8_HUMAN
  • D6RBF6_HUMAN
  • D6RFG2_HUMAN
  • D6RIR6_HUMAN
  • L0R823_HUMAN
genes like me logo Genes that share paralogs with BDH2: view

No data available for Paralogs for BDH2 Gene

Variants for BDH2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BDH2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs1054707 - p.Asn70Ser

Additional dbSNP identifiers (rs#s) for BDH2 Gene

Structural Variations from Database of Genomic Variants (DGV) for BDH2 Gene

Variant ID Type Subtype PubMed ID
esv2759270 CNV gain 17122850
nsv830021 CNV loss 17160897

Variation tolerance for BDH2 Gene

Residual Variation Intolerance Score: 85.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.97; 49.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BDH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BDH2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BDH2 Gene

Disorders for BDH2 Gene

Additional Disease Information for BDH2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for BDH2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BDH2 Gene

Publications for BDH2 Gene

  1. Characterization of human DHRS6, an orphan short chain dehydrogenase/reductase enzyme: a novel, cytosolic type 2 R-beta-hydroxybutyrate dehydrogenase. (PMID: 16380372) Guo K … Oppermann U (The Journal of biological chemistry 2006) 2 3 4 54
  2. Siderophore-mediated iron trafficking in humans is regulated by iron. (PMID: 22527885) Liu Z … Devireddy L (Journal of molecular medicine (Berlin, Germany) 2012) 3 4 54
  3. Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy. (PMID: 21791085) Maurer GD … Rieger J (BMC cancer 2011) 2 3 54
  4. 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. (PMID: 20332099) Kalsi G … Riley BP (Human molecular genetics 2010) 3 41 54
  5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 54

Products for BDH2 Gene

Sources for BDH2 Gene