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Aliases for BDH2 Gene

Aliases for BDH2 Gene

  • 3-Hydroxybutyrate Dehydrogenase 2 2 3
  • 3-Hydroxybutyrate Dehydrogenase, Type 2 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 15C Member 1 3 4
  • Dehydrogenase/Reductase SDR Family Member 6 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
  • 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 Butanoate metabolism. 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 HPGD.

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).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BDH2 Gene

Genomics for BDH2 Gene

Regulatory Elements for BDH2 Gene

Enhancers for BDH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F103098 0.9 ENCODE 44.8 +0.5 484 2.1 TBP ATF1 CREB3L1 ZNF76 ARID4B RAD21 YY1 ETS1 ZNF143 CREM BDH2 SLC9B2
GH04F103197 1.1 ENCODE 28.3 -98.2 -98208 2.2 PKNOX1 ATF1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF48 BRCA1 ZNF143 BDH2 KRT8P46 CENPE
GH04F103091 1 Ensembl ENCODE 26.7 +7.6 7562 1.4 CTCF SAP130 ZNF384 YBX1 EBF1 RAD21 SMC3 ZNF143 THAP11 SCRT1 BDH2 SLC9B1 SLC9B2
GH04F103200 0.6 ENCODE 27 -101.1 -101108 1.9 ZNF316 MAFF MAFG SMAD4 EMSY MAFK BDH2 KRT8P46 SLC9B2 ENSG00000248161 CENPE LOC101929448
GH04F103074 1.1 ENCODE 12.5 +23.8 23833 2.9 PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 YY1 FOS ZNF263 NFYC BDH2 SLC9B2 SLC9B1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BDH2 on UCSC Golden Path with GeneCards custom track

Promoters for BDH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001246590 383 1400 CREB3L1 ZNF76 ARID4B THRB RAD21 YY1 ETS1 ZNF143 CREM MIXL1

Genomic Location for BDH2 Gene

Chromosome:
4
Start:
103,077,625 bp from pter
End:
103,099,883 bp from pter
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 Lys 48 and Lys 159
  • 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

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BDH2

Flow Cytometry Products

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

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 --
GO:0070062 extracellular exosome IDA 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
Acetoacetic acid Experimental Pharma 0
NAD Pharma Full agonist, Agonist 0
NADH Nutra 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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BDH2

Flow Cytometry Products

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 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
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 mRNA Expression by UniProt/SwissProt 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 34
  • 99.59 (n)
-- 35
  • 96 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia BDH2 34 35
  • 90.2 (n)
cow
(Bos Taurus)
Mammalia BDH2 34 35
  • 89.52 (n)
rat
(Rattus norvegicus)
Mammalia Bdh2 34
  • 86.12 (n)
mouse
(Mus musculus)
Mammalia Bdh2 34 16 35
  • 85.31 (n)
oppossum
(Monodelphis domestica)
Mammalia BDH2 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BDH2 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves BDH2 34 35
  • 76.73 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 15 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bdh2 34
  • 74.83 (n)
Str.16632 34
zebrafish
(Danio rerio)
Actinopterygii bdh2 34 35
  • 72.79 (n)
Dr.15584 34
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G26760 34
  • 45.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 65 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02480 34
  • 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

(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 Sequence Context AA Info Type
rs10516498 -- 103,088,870(+) CTATA(C/T)GCTGA intron-variant
rs1054707 -- 103,092,639(-) TGCCA(A/G)TGAAG reference, missense
rs1062018 -- 103,085,924(-) ACAAT(A/C)TGGCA intron-variant
rs10714141 -- 103,100,249(+) GAAAT(-/A)AAAAA upstream-variant-2KB
rs111371251 -- 103,098,537(+) GGGGC(C/T)GTTAC intron-variant, upstream-variant-2KB

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

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

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)

Relevant External Links for BDH2 Gene

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

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

Disorders for BDH2 Gene

Relevant External Links for BDH2

Genetic Association Database (GAD)
BDH2
Human Genome Epidemiology (HuGE) Navigator
BDH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BDH2

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. (J. Biol. Chem. 2006) 2 3 4 64
  2. Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy. (PMID: 21791085) Maurer G.D. … Rieger J. (BMC Cancer 2011) 2 3 64
  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 B.P. (Hum. Mol. Genet. 2010) 3 46 64
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for BDH2 Gene

Sources for BDH2 Gene

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