Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BDH2 (3-hydroxybutyrate dehydrogenase, type 2)

Identity

Alias_namesmember 1
DHRS6
Alias_symbol (synonym)UCPA-OR
FLJ13261
UNQ6308
PRO20933
SDR15C1
Other aliasEFA6R
HGNC (Hugo) BDH2
LocusID (NCBI) 56898
Atlas_Id 40304
Location 4q24  [Link to chromosome band 4q24]
Location_base_pair Starts at 103998782 and ends at 104021024 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)BDH2   32389
Cards
Entrez_Gene (NCBI)BDH2  56898  3-hydroxybutyrate dehydrogenase, type 2
AliasesDHRS6; EFA6R; PRO20933; SDR15C1; 
UCPA-OR; UNQ6308
GeneCards (Weizmann)BDH2
Ensembl hg19 (Hinxton)ENSG00000164039 [Gene_View]  chr4:103998782-104021024 [Contig_View]  BDH2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000164039 [Gene_View]  chr4:103998782-104021024 [Contig_View]  BDH2 [Vega]
ICGC DataPortalENSG00000164039
TCGA cBioPortalBDH2
AceView (NCBI)BDH2
Genatlas (Paris)BDH2
WikiGenes56898
SOURCE (Princeton)BDH2
Genetics Home Reference (NIH)BDH2
Genomic and cartography
GoldenPath hg19 (UCSC)BDH2  -     chr4:103998782-104021024 -  4q24   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BDH2  -     4q24   [Description]    (hg38-Dec_2013)
EnsemblBDH2 - 4q24 [CytoView hg19]  BDH2 - 4q24 [CytoView hg38]
Mapping of homologs : NCBIBDH2 [Mapview hg19]  BDH2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF164790 AK023323 AK128463 AK290160 AK291335
RefSeq transcript (Entrez)NM_020139
RefSeq genomic (Entrez)NC_000004 NC_018915 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)BDH2
Cluster EST : UnigeneHs.124696 [ NCBI ]
CGAP (NCI)Hs.124696
Alternative Splicing GalleryENSG00000164039
Gene ExpressionBDH2 [ NCBI-GEO ]   BDH2 [ EBI - ARRAY_EXPRESS ]   BDH2 [ SEEK ]   BDH2 [ MEM ]
Gene Expression Viewer (FireBrowse)BDH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56898
GTEX Portal (Tissue expression)BDH2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BUT1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BUT1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BUT1
Splice isoforms : SwissVarQ9BUT1
Catalytic activity : Enzyme1.1.1.- [ Enzyme-Expasy ]   1.1.1.-1.1.1.- [ IntEnz-EBI ]   1.1.1.- [ BRENDA ]   1.1.1.- [ KEGG ]   
PhosPhoSitePlusQ9BUT1
Domaine pattern : Prosite (Expaxy)ADH_SHORT (PS00061)   
Domains : Interpro (EBI)DH_sc/Rdtase_SDR    Glc/ribitol_DH    NAD(P)-bd_dom    Sc_DH/Rdtase_CS   
Domain families : Pfam (Sanger)adh_short (PF00106)   
Domain families : Pfam (NCBI)pfam00106   
Conserved Domain (NCBI)BDH2
DMDM Disease mutations56898
Blocks (Seattle)BDH2
PDB (SRS)2AG5   
PDB (PDBSum)2AG5   
PDB (IMB)2AG5   
PDB (RSDB)2AG5   
Structural Biology KnowledgeBase2AG5   
SCOP (Structural Classification of Proteins)2AG5   
CATH (Classification of proteins structures)2AG5   
SuperfamilyQ9BUT1
Human Protein AtlasENSG00000164039
Peptide AtlasQ9BUT1
HPRD07103
IPIIPI00607799   IPI00446769   IPI00970819   IPI00964424   IPI00966221   IPI00966463   IPI00968129   
Protein Interaction databases
DIP (DOE-UCLA)Q9BUT1
IntAct (EBI)Q9BUT1
FunCoupENSG00000164039
BioGRIDBDH2
STRING (EMBL)BDH2
ZODIACBDH2
Ontologies - Pathways
QuickGOQ9BUT1
Ontology : AmiGO3-hydroxybutyrate dehydrogenase activity  3-hydroxybutyrate dehydrogenase activity  cytoplasm  mitochondrion  cytosol  fatty acid beta-oxidation  oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor  siderophore biosynthetic process  siderophore biosynthetic process  epithelial cell differentiation  heme metabolic process  ketone body biosynthetic process  NAD binding  iron ion homeostasis  iron ion homeostasis  extracellular exosome  
Ontology : EGO-EBI3-hydroxybutyrate dehydrogenase activity  3-hydroxybutyrate dehydrogenase activity  cytoplasm  mitochondrion  cytosol  fatty acid beta-oxidation  oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor  siderophore biosynthetic process  siderophore biosynthetic process  epithelial cell differentiation  heme metabolic process  ketone body biosynthetic process  NAD binding  iron ion homeostasis  iron ion homeostasis  extracellular exosome  
Pathways : KEGGSynthesis and degradation of ketone bodies    Butanoate metabolism   
NDEx NetworkBDH2
Atlas of Cancer Signalling NetworkBDH2
Wikipedia pathwaysBDH2
Orthology - Evolution
OrthoDB56898
GeneTree (enSembl)ENSG00000164039
Phylogenetic Trees/Animal Genes : TreeFamBDH2
HOVERGENQ9BUT1
HOGENOMQ9BUT1
Homologs : HomoloGeneBDH2
Homology/Alignments : Family Browser (UCSC)BDH2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBDH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BDH2
dbVarBDH2
ClinVarBDH2
1000_GenomesBDH2 
Exome Variant ServerBDH2
ExAC (Exome Aggregation Consortium)BDH2 (select the gene name)
Genetic variants : HAPMAP56898
Genomic Variants (DGV)BDH2 [DGVbeta]
DECIPHER (Syndromes)4:103998782-104021024  ENSG00000164039
CONAN: Copy Number AnalysisBDH2 
Mutations
ICGC Data PortalBDH2 
TCGA Data PortalBDH2 
Broad Tumor PortalBDH2
OASIS PortalBDH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBDH2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBDH2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BDH2
DgiDB (Drug Gene Interaction Database)BDH2
DoCM (Curated mutations)BDH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BDH2 (select a term)
intoGenBDH2
Cancer3DBDH2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenBDH2
Genetic Testing Registry BDH2
NextProtQ9BUT1 [Medical]
TSGene56898
GENETestsBDH2
Huge Navigator BDH2 [HugePedia]
snp3D : Map Gene to Disease56898
BioCentury BCIQBDH2
ClinGenBDH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56898
Chemical/Pharm GKB GenePA142672559
Clinical trialBDH2
Miscellaneous
canSAR (ICR)BDH2 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBDH2
EVEXBDH2
GoPubMedBDH2
iHOPBDH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:57:30 CET 2017

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