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Gene Information
Gene ID:56898
Symbol:BDH2
Full Name:3-hydroxybutyrate dehydrogenase, type 2
Alias:DHRS6|EFA6R|FLJ13261|PRO20933|UCPA-OR|UNQ6308
Organism:Homo sapiens (Human)
Chromosome:4
Genetic Location:4q24
Physical Location:104218230-104240472 on NC_000004.10, complement
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Linkage Dataset
MarkerLODP valueLocation (bp)
D4S4232.610.000392691777
D4S4273.530.00003121646580
Region:92691777-121646580
Phenotype:ADSX (number of DSM-IV AD symptoms)
Name:16534506
Method:Linkage
Publication:Prescott et al. Mol Psychiatry. (2006) Genomewide linkage study in the Irish affected sib pair study of alcohol dependence: evidence for a susceptibility region for symptoms of alcohol dependence on chromosome 4. PubMed
Summary:We conducted a genome scan in the Irish Affected Sib Pair Study of Alcohol Dependence (IASPSAD). A 4 cM genome scan was conducted using 474 families of which most (96%) were comprised by affected sib pairs. Nonparametric and quantitative linkage analyses were conducted using DSM-IV alcohol dependence (AD) and number of DSM-IV AD symptoms (ADSX). Quantitative results indicate strong linkage for number of AD criteria to a broad region of chromosome 4, ranging from 4q22 to 4q32 (peak multipoint LOD=4.59, P=2.1 x 10(-6), at D4S1611). We got the gene list in the region between two markers D4S423 and D4S427 as markers between (included) these two markers have LOD scores >2 with P value <0.0003.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_020139.3NP_064524.3NC_000004.10 range: 104218230..104240472, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005737cytoplasmCellular ComponentIDA (16380372)
GO:0005739mitochondrionCellular ComponentIDA (16380372)
GO:00038583-hydroxybutyrate dehydrogenase activityMolecular FunctionIDA (16380372)
GO:0005488bindingMolecular FunctionIEA
GO:0016491oxidoreductase activityMolecular FunctionIEA
GO:0051287NAD bindingMolecular FunctionIDA (16380372)
GO:0006635fatty acid beta-oxidationBiological ProcessIDA (16380372)
GO:0008152metabolic processBiological ProcessIEA
Other Database Cross Links
NCBI Entrez Gene:56898
HGNC:32389
Ensembl:ENSG00000164039
MIM:
HPRD:07103
HuGE Navigator:56898
dbSNP:BDH2
GeneCard:BDH2
AceView:BDH2