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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
  • 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
  • 3-Hydroxybutyrate Dehydrogenase Type 2 3
  • 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 Metabolism and Ketone body 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. An important paralog of this gene is HSD17B14.

UniProtKB/Swiss-Prot 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 homeostasis and transport. Also acts as a 3-hydroxybutyrate dehydrogenase (By similarity).

Additional gene information for BDH2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
GH04I103098 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 594.8 +0.5 484 2.1 ARNT ARID4B SIN3A YY1 ETS1 ZNF143 RUNX3 PPARG KAT8 MBD2 BDH2 SLC9B2
GH04I103197 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 28.3 -98.2 -98221 2.2 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 E2F8 ZNF207 ZNF143 CENPE BDH2 NFKB1 UBE2D3 LOC100419096 MANBA KRT8P46
GH04I103074 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 12.5 +24.0 24027 3.3 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF263 SLC9B2 BDH2 SLC9B1
GH04I102499 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 9.9 +597.3 597317 5.2 PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B NFKB1 ENSG00000260651 LOC105377621 MANBA LOC100419096 UBE2D3 BDH2 ENSG00000248161 LOC105377347
GH04I103091 Enhancer 0.7 ENCODE 26.8 +8.1 8064 0.2 CTCF FOXA2 SAP130 RB1 ZNF384 EBF1 YBX1 IRF4 RAD21 SMC3 BDH2 SLC9B1 SLC9B2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BDH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BDH2 gene promoter:

Genomic Locations for BDH2 Gene

Genomic Locations for BDH2 Gene
chr4:103,077,625-103,099,883
(GRCh38/hg38)
Size:
22,259 bases
Orientation:
Minus strand
chr4:103,998,782-104,021,040
(GRCh37/hg19)

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 posLast=159159
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BDH2 Gene

Domains & Families for BDH2 Gene

Gene Families for BDH2 Gene

Suggested Antigen Peptide Sequences for BDH2 Gene

GenScript: Design optimal peptide antigens:

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 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 CatalyticActivity:
(R)-3-hydroxybutanoate + NAD(+) = acetoacetate + NADH.
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 homeostasis and transport. Also acts as a 3-hydroxybutyrate dehydrogenase (By similarity).

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 TAS --
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 tm1a(EUCOMM)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for BDH2

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
extracellular 5
cytosol 5
mitochondrion 3
peroxisome 1
nucleus 1
endoplasmic reticulum 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 TAS,IDA --
GO:0070062 extracellular exosome IDA,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 IEA,ISS --
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 Pharma Full agonist, Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(R)-3-Hydroxybutyric acid
  • (R)-(-)-b-Hydroxybutyrate
  • (R)-(-)-b-Hydroxybutyric acid
  • (R)-(-)-beta-Hydroxybutyrate
  • (R)-(-)-beta-Hydroxybutyric acid
  • (R)-3-Hydroxybutanoate
625-72-9
(S)-3-Hydroxybutyric acid
  • (+)-3-Hydroxy-N-butyric acid
  • (+)-3-Hydroxybutyric acid
  • (3S)-3-hydroxy-Butanoate
  • (3S)-3-hydroxy-Butanoic acid
  • (3S)-3-Hydroxybutyric acid
6168-83-8
3-Hydroxybutyric acid
  • 3-Hydroxy-butanoate
  • 3-Hydroxy-butanoic acid
  • 3-Hydroxy-butyrate
  • 3-Hydroxy-butyric acid
  • 3-Hydroxybutanoate
300-85-6
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with BDH2: view

Transcripts for BDH2 Gene

Unigene Clusters for BDH2 Gene

3-hydroxybutyrate dehydrogenase, type 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
BDH2

Expression for BDH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for BDH2 Gene



Protein tissue co-expression partners for BDH2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BDH2 Gene:

BDH2

SOURCE GeneReport for Unigene cluster for BDH2 Gene:

Hs.124696

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 , mRNA Expression by UniProt/SwissProt 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 33
  • 99.59 (n)
-- 34
  • 96 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia BDH2 33 34
  • 90.2 (n)
cow
(Bos Taurus)
Mammalia BDH2 33 34
  • 89.52 (n)
rat
(Rattus norvegicus)
Mammalia Bdh2 33
  • 86.12 (n)
mouse
(Mus musculus)
Mammalia Bdh2 33 16 34
  • 85.31 (n)
oppossum
(Monodelphis domestica)
Mammalia BDH2 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BDH2 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves BDH2 33 34
  • 76.73 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 15 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bdh2 33
  • 74.83 (n)
Str.16632 33
zebrafish
(Danio rerio)
Actinopterygii bdh2 33 34
  • 72.79 (n)
Dr.15584 33
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G26760 33
  • 45.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 65 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02480 33
  • 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)

Paralogs for BDH2 Gene

Paralogs for BDH2 Gene

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

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

Variants for BDH2 Gene

Sequence variations from dbSNP and Humsavar for BDH2 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000034948 -- 103,100,349(-) C/G upstream_transcript_variant
rs1000039782 -- 103,084,209(-) T/G intron_variant
rs1000091951 -- 103,084,635(-) C/T intron_variant
rs1000131327 -- 103,092,696(-) C/T coding_sequence_variant, missense_variant
rs1000324638 -- 103,098,807(-) T/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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 58
  2. 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 58
  3. 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 44 58
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for BDH2 Gene

  • Addgene plasmids for BDH2

Sources for BDH2 Gene

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