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mutLBSgeneDB |
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| Gene summary for BDH2 |
 Gene summary |
| Basic gene Info. | Gene symbol | BDH2 |
| Gene name | 3-hydroxybutyrate dehydrogenase, type 2 | |
| Synonyms | DHRS6|EFA6R|PRO20933|SDR15C1|UCPA-OR|UNQ6308 | |
| Cytomap | UCSC genome browser: 4q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_020139.3, | |
| Description | 3-hydroxybutyrate dehydrogenase type 2R-beta-hydroxybutyrate dehydrogenasedehydrogenase/reductase (SDR family) member 6dehydrogenase/reductase SDR family member 6oxidoreductase UCPAshort chain dehydrogenase/reductase family 15C, member 1 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| HPRD : 07103 | ||
| Protein | UniProt: Q9BUT1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BDH2 | |
| BioGPS: 56898 | ||
| Pathway | NCI Pathway Interaction Database: BDH2 | |
| KEGG: BDH2 | ||
| REACTOME: BDH2 | ||
| Pathway Commons: BDH2 | ||
| Context | iHOP: BDH2 | |
| ligand binding site mutation search in PubMed: BDH2 | ||
| UCL Cancer Institute: BDH2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006635 | fatty acid beta-oxidation | 16380372 | GO:0030855 | epithelial cell differentiation | 21492153 |
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| Ligand binding site mutations for BDH2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L57 | L57F | BLCA | 1 | R205 | K207N | BLCA | 1 | G178 | G178V | LUAD | 1 | S184 | S184Y | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for BDH2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | L57 | L57F | -1.4501082 | R205 | K207N | -1.1410526 | G178 | G178V | -0.52652771 | S184 | S184Y | -0.17127202 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for BDH2 from PDB |
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| Differential gene expression and gene-gene network for BDH2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for BDH2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BDH2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of BDH2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAD | NAD ZWITTERION | 2ag5 | A | L57 G178 S184 | NAD | NAD ZWITTERION | 2ag5 | B | L57 G178 S184 | NAD | NAD ZWITTERION | 2ag5 | C | L57 G178 S184 | NAD | NAD ZWITTERION | 2ag5 | D | L57 G178 S184 | SO4 | SULFATE | 2ag5 | A | R205 | SO4 | SULFATE | 2ag5 | C | R205 | SO4 | SULFATE | 2ag5 | D | R205 |
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| Conservation information for LBS of BDH2 |
| Multiple alignments for Q9BUT1 in multiple species |
| LBS | AA sequence | # species | Species | A13 | VIVLTAAAQGI | 2 | Rattus norvegicus, Bos taurus | A13 | VIILTAAAQGI | 1 | Homo sapiens | A13 | VIVLSAAAQGI | 1 | Danio rerio | A82 | VLFNVAGFVHH | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | A82 | VLFNIAGFVHH | 1 | Danio rerio | D37 | KVIATDINESK | 1 | Homo sapiens | D37 | QVTATDINGEK | 1 | Danio rerio | D37 | KVIATDINEAK | 1 | Rattus norvegicus | D37 | KVIATDINDSK | 1 | Bos taurus | D58 | QTRVLDVTKKK | 1 | Homo sapiens | D58 | KTKVVDVTKKD | 1 | Danio rerio | D58 | QTRVLDVTKKR | 1 | Rattus norvegicus | D58 | HTRVLDVTKKK | 1 | Bos taurus | F202 | EARNDFLKRQK | 1 | Homo sapiens | F202 | QAFKDFMARQR | 1 | Danio rerio | F202 | EALKAFLNRQK | 1 | Rattus norvegicus | F202 | EALSDFLKRQK | 1 | Bos taurus | G17 | TAAAQGIGQAA | 1 | Homo sapiens | G17 | SAAAQGIGKAS | 1 | Danio rerio | G17 | TAAAQGIGRAS | 1 | Rattus norvegicus | G17 | TAAAQGIGRAA | 1 | Bos taurus | G178 | NCVCPGTVDTP | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | G178 | NCICPGTVDTP | 1 | Danio rerio | G83 | LFNVAGFVHHG | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | G83 | LFNIAGFVHHG | 1 | Danio rerio | I18 | AAAQGIGQAAA | 1 | Homo sapiens | I18 | AAAQGIGKASA | 1 | Danio rerio | I18 | AAAQGIGRASA | 1 | Rattus norvegicus | I18 | AAAQGIGRAAA | 1 | Bos taurus | I38 | VIATDINESKL | 1 | Homo sapiens | I38 | VTATDINGEKL | 1 | Danio rerio | I38 | VIATDINEAKL | 1 | Rattus norvegicus | I38 | VIATDINDSKL | 1 | Bos taurus | K151 | VYSTTKAAVIG | 2 | Homo sapiens, Bos taurus | K151 | VYSTSKAAVIG | 1 | Danio rerio | K151 | VYSATKAAVIG | 1 | Rattus norvegicus | L104 | DFSMNLNVRSM | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | L104 | DFTMNVNVRSM | 1 | Danio rerio | L185 | VDTPSLQERIQ | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | L185 | VDTPSLRERIQ | 1 | Danio rerio | L57 | IQTRVLDVTKK | 2 | Homo sapiens, Rattus norvegicus | L57 | IKTKVVDVTKK | 1 | Danio rerio | L57 | IHTRVLDVTKK | 1 | Bos taurus | P177 | CNCVCPGTVDT | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | P177 | CNCICPGTVDT | 1 | Danio rerio | P183 | GTVDTPSLQER | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | P183 | GTVDTPSLRER | 1 | Danio rerio | Q16 | LTAAAQGIGRA | 2 | Rattus norvegicus, Bos taurus | Q16 | LTAAAQGIGQA | 1 | Homo sapiens | Q16 | LSAAAQGIGKA | 1 | Danio rerio | R144 | KGVVNRCVYST | 3 | Homo sapiens, Danio rerio, Bos taurus | R144 | KGVENRCVYSA | 1 | Rattus norvegicus | R188 | PSLQERIQARG | 1 | Homo sapiens | R188 | PSLRERIQARP | 1 | Danio rerio | R188 | PSLQERIQARD | 1 | Rattus norvegicus | R188 | PSLQERIQARP | 1 | Bos taurus | R205 | NDFLKRQKTGR | 1 | Homo sapiens | R205 | KDFMARQRTGR | 1 | Danio rerio | R205 | KAFLNRQKTGR | 1 | Rattus norvegicus | R205 | SDFLKRQKTGR | 1 | Bos taurus | S132 | NIINMSSVASS | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | S132 | NIINMASVASS | 1 | Danio rerio | S184 | TVDTPSLQERI | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | S184 | TVDTPSLRERI | 1 | Danio rerio | T182 | PGTVDTPSLQE | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | T182 | PGTVDTPSLRE | 1 | Danio rerio | V180 | VCPGTVDTPSL | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | V180 | ICPGTVDTPSL | 1 | Danio rerio | V59 | TRVLDVTKKKQ | 2 | Homo sapiens, Bos taurus | V59 | TKVVDVTKKDQ | 1 | Danio rerio | V59 | TRVLDVTKKRQ | 1 | Rattus norvegicus | V81 | DVLFNVAGFVH | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | V81 | DVLFNIAGFVH | 1 | Danio rerio | V85 | NVAGFVHHGTI | 2 | Rattus norvegicus, Bos taurus | V85 | NVAGFVHHGTV | 1 | Homo sapiens | V85 | NIAGFVHHGSI | 1 | Danio rerio | Y147 | VNRCVYSTTKA | 2 | Homo sapiens, Bos taurus | Y147 | VNRCVYSTSKA | 1 | Danio rerio | Y147 | ENRCVYSATKA | 1 | Rattus norvegicus |
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