Gene: BCKDHB

594
BCKDE1B|BCKDH E1-beta|E1B
branched chain keto acid dehydrogenase E1 subunit beta
protein-coding
6q14.1
Ensembl:ENSG00000083123 MIM:248611 Vega:OTTHUMG00000016430 UniprotKB:P21953
NG_009775.1
SNP Mapped
16   ANCO-SNPs
AD
0   
NA (AD)  NA (ND)   (Frontal_Cortex)
2.775e-1 (AD)  7.216e-1 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs10455370chr6:80331150 (GRCh38.p7)C>Talcohol dependenceSNV(Single Nucleotide Variation)
rs9352817chr6:80316162 (GRCh38.p7)T>Galcohol dependenceSNV(Single Nucleotide Variation)
rs4706834chr6:80302888 (GRCh38.p7)G>Talcohol dependenceSNV(Single Nucleotide Variation)
rs2179842chr6:80269336 (GRCh38.p7)T>Calcohol dependenceSNV(Single Nucleotide Variation)
rs3812121chr6:80259010 (GRCh38.p7)A>Galcohol dependenceSNV(Single Nucleotide Variation)
rs9343977chr6:80257284 (GRCh38.p7)C>G / C>Talcohol dependenceSNV(Single Nucleotide Variation)
rs978814chr6:80250195 (GRCh38.p7)C>Aalcohol dependenceSNV(Single Nucleotide Variation)
rs9343974chr6:80214928 (GRCh38.p7)A>Galcohol dependenceSNV(Single Nucleotide Variation)
rs942381chr6:80170433 (GRCh38.p7)T>Galcohol dependenceSNV(Single Nucleotide Variation)
rs10080237chr6:80144753 (GRCh38.p7)T>Calcohol dependenceSNV(Single Nucleotide Variation)
rs2322633chr6:80136272 (GRCh38.p7)T>Calcohol dependenceSNV(Single Nucleotide Variation)
rs2322631chr6:80134239 (GRCh38.p7)A>Calcohol dependenceSNV(Single Nucleotide Variation)
rs4706113chr6:80129598 (GRCh38.p7)C>Talcohol dependenceSNV(Single Nucleotide Variation)
rs9448894chr6:80127536 (GRCh38.p7)G>A / G>Talcohol dependenceSNV(Single Nucleotide Variation)
rs4437429chr6:80118875 (GRCh38.p7)A>Galcohol dependenceSNV(Single Nucleotide Variation)
rs2298307chr6:80106579 (GRCh38.p7)T>Calcohol dependenceSNV(Single Nucleotide Variation)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
DHTKD10.852
HSDL20.839
ALDH9A10.83
ERLIN20.828
NTRK20.825
MTM10.824
NADK20.818
SLC18B10.812
WLS0.81
APPL20.807

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR4F5-0.461
OR4F29-0.441
EPPIN-0.35
MIP-0.34
CELSR1-0.303
NPW-0.294
FMR1NB-0.29
NHLH1-0.285
KLK8-0.276
GPR68-0.275

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C0164032,4-dinitrotoluene"2,4-dinitrotoluene affects the expression of BCKDHB mRNA"21346803
C0235142,6-dinitrotoluene"2,6-dinitrotoluene results in decreased expression of BCKDHB mRNA"20406850
D000082AcetaminophenAcetaminophen results in decreased expression of BCKDHB mRNA29067470
D016604Aflatoxin B1Aflatoxin B1 results in decreased expression of BCKDHB mRNA21641981
D016604Aflatoxin B1Aflatoxin B1 results in decreased methylation of BCKDHB gene27153756
D016604Aflatoxin B1Aflatoxin B1 results in decreased expression of BCKDHB mRNA19770486
D000643Ammonium ChlorideAmmonium Chloride affects the expression of BCKDHB mRNA16483693
D018501Antirheumatic AgentsAntirheumatic Agents results in increased expression of BCKDHB mRNA24449571
D001280AtrazineAtrazine results in decreased expression of BCKDHB mRNA25929836
D001564Benzo(a)pyreneBenzo(a)pyrene results in decreased expression of BCKDHB mRNA22316170|2623829
D001564Benzo(a)pyreneAHR protein affects the reaction [Benzo(a)pyrene affects the expression of BCKDHB mRNA]22228805
D001564Benzo(a)pyreneBenzo(a)pyrene results in decreased expression of BCKDHB mRNA19770486|2171566
D001564Benzo(a)pyreneBenzo(a)pyrene results in increased expression of BCKDHB mRNA22228805
C018475butyraldehydebutyraldehyde results in decreased expression of BCKDHB mRNA26079696
C074702chromium hexavalent ionchromium hexavalent ion affects the expression of BCKDHB mRNA28472532
C041167chromium nitratechromium nitrate results in decreased expression of BCKDHB protein22144121
C031180chrysenechrysene results in decreased expression of BCKDHB mRNA26377693
C018021cobaltous chloridecobaltous chloride results in decreased expression of BCKDHB mRNA19376846
D003300CopperCopper results in decreased expression of BCKDHB mRNA22465980
D019327Copper SulfateCopper Sulfate results in decreased expression of BCKDHB mRNA19549813
D003375CoumestrolCoumestrol results in decreased expression of BCKDHB mRNA19167446
D003471CuprizoneCuprizone results in increased expression of BCKDHB mRNA26577399
D016572CyclosporineCyclosporine results in decreased expression of BCKDHB mRNA20106945|2556210
D003907DexamethasoneDexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of BCKDHB mRNA]27941970
D003993Dibutyl PhthalateDibutyl Phthalate results in decreased expression of BCKDHB mRNA17361019|2126653
D003993Dibutyl PhthalateDibutyl Phthalate results in decreased expression of BCKDHB mRNA21266533
D002945Cisplatin[Cisplatin co-treated with jinfukang] results in increased expression of BCKDHB mRNA27392435
D002945CisplatinCisplatin results in decreased expression of BCKDHB mRNA24280081
D002945CisplatinCisplatin results in decreased expression of BCKDHB mRNA24280081
D004041Dietary FatsDietary Fats results in decreased expression of BCKDHB mRNA18042831
D004052DiethylnitrosamineDiethylnitrosamine results in increased expression of BCKDHB mRNA17942915
D004052DiethylnitrosamineMET protein inhibits the reaction [Diethylnitrosamine results in increased expression of BCKDHB mRNA]17942915
D0151279,10-Dimethyl-1,2-benzanthracene"9,10-Dimethyl-1,2-benzanthracene results in decreased expression of BCKDHB mRNA"22485181
D004317DoxorubicinDoxorubicin results in decreased expression of BCKDHB mRNA26873546
D005020Ethyl MethanesulfonateEthyl Methanesulfonate results in decreased expression of BCKDHB mRNA23649840
D005557FormaldehydeFormaldehyde results in decreased expression of BCKDHB mRNA23649840
C069837fullerene C60fullerene C60 results in decreased expression of BCKDHB mRNA19167457
D017313FenretinideFenretinide results in decreased expression of BCKDHB mRNA28973697
D015759Ionomycin[Tetradecanoylphorbol Acetate co-treated with Ionomycin] affects the expression of BCKDHB mRNA25613284
C544151jinfukang[Cisplatin co-treated with jinfukang] results in increased expression of BCKDHB mRNA27392435
C544151jinfukangjinfukang results in increased expression of BCKDHB mRNA27392435
C410337K 7174K 7174 results in decreased expression of BCKDHB mRNA24086573
C004925methylmercuric chloridemethylmercuric chloride results in increased expression of BCKDHB mRNA23103053
C004925methylmercuric chloridemethylmercuric chloride results in decreased expression of BCKDHB mRNA28001369
D008741Methyl MethanesulfonateMethyl Methanesulfonate results in decreased expression of BCKDHB mRNA23649840
D009532NickelNickel results in decreased expression of BCKDHB mRNA24768652|2558310
D005996NitroglycerinNitroglycerin results in decreased expression of BCKDHB mRNA12102619
C030110oxaliplatin[oxaliplatin co-treated with Topotecan] results in decreased expression of BCKDHB mRNA25729387
D000073878Palm OilPalm Oil results in decreased expression of BCKDHB mRNA18042831
D010269ParaquatParaquat results in increased expression of BCKDHB mRNA21371552
D010578PetroleumPetroleum affects the expression of BCKDHB mRNA25208076
D010695PhlorhizinPhlorhizin results in decreased expression of BCKDHB mRNA22538082
D010795Phthalic AcidsPhthalic Acids results in decreased expression of BCKDHB mRNA21061450
C006253pirinixic acidpirinixic acid results in decreased expression of BCKDHB mRNA17426115
C006253pirinixic acidpirinixic acid results in increased expression of BCKDHB mRNA23811191
D010936Plant ExtractsPlant Extracts results in increased expression of BCKDHB mRNA23557933
C027373potassium chromate(VI)potassium chromate(VI) results in increased expression of BCKDHB protein22144121
D015474IsotretinoinIsotretinoin results in decreased expression of BCKDHB mRNA20436886
D012822Silicon DioxideSilicon Dioxide analog results in decreased expression of BCKDHB mRNA25895662
D012822Silicon DioxideSilicon Dioxide results in decreased expression of BCKDHB mRNA25351596
C021751tanshinonetanshinone results in decreased expression of BCKDHB mRNA15849732
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of BCKDHB mRNA21570461
D013755Tetradecanoylphorbol Acetate[Tetradecanoylphorbol Acetate co-treated with Ionomycin] affects the expression of BCKDHB mRNA25613284
C009495titanium dioxidetitanium dioxide results in decreased expression of BCKDHB mRNA23557971
D014028Tobacco Smoke PollutionTobacco Smoke Pollution results in decreased expression of BCKDHB protein22609517
D019772Topotecan[oxaliplatin co-treated with Topotecan] results in decreased expression of BCKDHB mRNA25729387
C016805tris(1,3-dichloro-2-propyl)phosphate"tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of BCKDHB mRNA"26179874
D014415TunicamycinTunicamycin results in decreased expression of BCKDHB mRNA22378314
D014520UrethaneUrethane results in decreased expression of BCKDHB mRNA28818685
D014635Valproic AcidValproic Acid affects the expression of BCKDHB mRNA25979313
D014635Valproic AcidValproic Acid results in decreased methylation of BCKDHB gene29154799
D014635Valproic AcidValproic Acid results in increased expression of BCKDHB mRNA23179753|2718838
D014640VancomycinVancomycin results in increased expression of BCKDHB mRNA18930951
C029297vinylidene chloridevinylidene chloride results in decreased expression of BCKDHB mRNA26682919
D014874Water Pollutants, Chemical"Water Pollutants, Chemical affects the expression of BCKDHB mRNA"25208076

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0003826alpha-ketoacid dehydrogenase activity-IBA21873635  
GO:0003826alpha-ketoacid dehydrogenase activitycontributes_toIMP2022752  
GO:00038633-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity-IEA-  
GO:0005515protein binding-IPI12902323  15166214  15576032  
GO ID GO Term Qualifier Evidence PubMed
GO:0007584response to nutrient-IBA21873635  
GO:0009083branched-chain amino acid catabolic process-IBA21873635  
GO:0009083branched-chain amino acid catabolic process-IMP2022752  
GO:0055114oxidation-reduction process-IEA-  
GO ID GO Term Qualifier Evidence PubMed
GO:0005739mitochondrion-IBA21873635  
GO:0005739mitochondrion-IMP2022752  
GO:0005759mitochondrial matrix-TAS-  
GO:0005947mitochondrial alpha-ketoglutarate dehydrogenase complex-IBA21873635  
GO:0005947mitochondrial alpha-ketoglutarate dehydrogenase complex-IMP2022752  
KEGG ID KEGG Term
hsa00280Valine, leucine and isoleucine degradation
hsa01100Metabolic pathways
Reactome ID Reactome Term Evidence
R-HSA-1430728MetabolismTAS
R-HSA-389661Glyoxylate metabolism and glycine degradationTAS
R-HSA-70895Branched-chain amino acid catabolismTAS
R-HSA-71291Metabolism of amino acids and derivativesTAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal