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mutLBSgeneDB |
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| Gene summary for HSD17B8 |
 Gene summary |
| Basic gene Info. | Gene symbol | HSD17B8 |
| Gene name | hydroxysteroid (17-beta) dehydrogenase 8 | |
| Synonyms | D6S2245E|FABG|FABGL|H2-KE6|HKE6|KE6|RING2|SDR30C1|dJ1033B10.9 | |
| Cytomap | UCSC genome browser: 6p21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_014234.4, | |
| Description | 17-beta-HSD 817-beta-hydroxysteroid dehydrogenase 83-oxoacyl-[acyl-carrier-protein] reductaseestradiol 17-beta-dehydrogenase 8estrogen 17-oxidoreductaseke-6protein Ke6really interesting new gene 2 proteinshort chain dehydrogenase/reductase family | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601417 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000204228 | ||
| HPRD : 03248 | ||
| Vega : OTTHUMG00000031117 | ||
| Protein | UniProt: Q92506 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HSD17B8 | |
| BioGPS: 7923 | ||
| Pathway | NCI Pathway Interaction Database: HSD17B8 | |
| KEGG: HSD17B8 | ||
| REACTOME: HSD17B8 | ||
| Pathway Commons: HSD17B8 | ||
| Context | iHOP: HSD17B8 | |
| ligand binding site mutation search in PubMed: HSD17B8 | ||
| UCL Cancer Institute: HSD17B8 | ||
| 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:0006703 | estrogen biosynthetic process | 17978863 |
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| Ligand binding site mutations for HSD17B8 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | T207 | K209R | KIRC | 1 | Y169,K173 | A171S | OV | 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 HSD17B8 |
| 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 | K173 | A171S | -1.1377324 | Y169 | A171S | -1.1377324 | T207 | K209R | -0.34769809 |
| (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 HSD17B8 from PDB |
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| Differential gene expression and gene-gene network for HSD17B8 |
| 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 HSD17B8 |
| 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 HSD17B8 |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Nutraceutical | DB00157 | NADH | Small molecule |  |
| Experimental | DB03461 | 2'-Monophosphoadenosine 5'-Diphosphoribose | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HSD17B8 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAD | NAD ZWITTERION | 2pd6 | A | Y169 K173 | NAD | NAD ZWITTERION | 4cql | A | Y169 K173 | NAD | NAD ZWITTERION | 4cql | H | Y169 K173 | NAD | NAD ZWITTERION | 4cql | L | Y169 K173 | NAD | NAD ZWITTERION | 4cql | M | Y169 K173 | NAD | NAD ZWITTERION | 4cql | P | Y169 K173 | NAD | NAD ZWITTERION | 2pd6 | B | Y169 K173 T207 | NAD | NAD ZWITTERION | 2pd6 | C | Y169 K173 T207 | NAD | NAD ZWITTERION | 2pd6 | D | Y169 K173 T207 | NAD | NAD ZWITTERION | 4cql | D | Y169 K173 T207 | NAD | NAD ZWITTERION | 4cql | E | Y169 K173 T207 | NAD | NAD ZWITTERION | 4cql | I | Y169 K173 T207 | NAP | NADP ZWITTERION | 4cqm | A | Y169 K173 T207 | NAP | NADP ZWITTERION | 4cqm | D | Y169 K173 T207 | NAP | NADP ZWITTERION | 4cqm | E | Y169 K173 T207 | NAP | NADP ZWITTERION | 4cqm | H | Y169 K173 T207 | NAP | NADP ZWITTERION | 4cqm | I | Y169 K173 T207 | NAP | NADP ZWITTERION | 4cqm | L | Y169 K173 T207 | NAP | NADP ZWITTERION | 4cqm | M | Y169 K173 T207 | NAP | NADP ZWITTERION | 4cqm | P | Y169 K173 T207 |
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| Conservation information for LBS of HSD17B8 |
| Multiple alignments for Q92506 in multiple species |
| LBS | AA sequence | # species | Species | A104 | VVVSCAGITRD | 2 | Mus musculus, Rattus norvegicus | A104 | VVVSCAGITQD | 1 | Homo sapiens | A74 | HAAFQADVSEA | 1 | Homo sapiens | A74 | HAAFQADVSQG | 1 | Mus musculus | A74 | HAAFQADVSEG | 1 | Rattus norvegicus | C103 | SVVVSCAGITR | 2 | Mus musculus, Rattus norvegicus | C103 | SVVVSCAGITQ | 1 | Homo sapiens | D42 | AVAACDLDGAA | 2 | Mus musculus, Rattus norvegicus | D42 | TVAACDLDRAA | 1 | Homo sapiens | D44 | AACDLDGAAAQ | 2 | Mus musculus, Rattus norvegicus | D44 | AACDLDRAAAQ | 1 | Homo sapiens | D75 | AAFQADVSEAR | 1 | Homo sapiens | D75 | AAFQADVSQGP | 1 | Mus musculus | D75 | AAFQADVSEGP | 1 | Rattus norvegicus | F201 | SVLPGFIATPM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G105 | VVSCAGITRDE | 2 | Mus musculus, Rattus norvegicus | G105 | VVSCAGITQDE | 1 | Homo sapiens | G18 | LALVTGAGSGI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G200 | NSVLPGFIATP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G22 | TGAGSGIGRAI | 2 | Mus musculus, Rattus norvegicus | G22 | TGAGSGIGRAV | 1 | Homo sapiens | I106 | VSCAGITRDEF | 2 | Mus musculus, Rattus norvegicus | I106 | VSCAGITQDEF | 1 | Homo sapiens | I154 | GSIINISSIVG | 2 | Homo sapiens, Rattus norvegicus | I154 | GSIINISSIIG | 1 | Mus musculus | I202 | VLPGFIATPMT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I23 | GAGSGIGRAIS | 2 | Mus musculus, Rattus norvegicus | I23 | GAGSGIGRAVS | 1 | Homo sapiens | K173 | NYASSKAGVIG | 2 | Mus musculus, Rattus norvegicus | K173 | NYAASKAGVIG | 1 | Homo sapiens | L43 | VAACDLDGAAA | 2 | Mus musculus, Rattus norvegicus | L43 | VAACDLDRAAA | 1 | Homo sapiens | M206 | FIATPMTQKMP | 2 | Mus musculus, Rattus norvegicus | M206 | FIATPMTQKVP | 1 | Homo sapiens | P199 | CNSVLPGFIAT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P205 | GFIATPMTQKM | 2 | Mus musculus, Rattus norvegicus | P205 | GFIATPMTQKV | 1 | Homo sapiens | S155 | SIINISSIVGK | 2 | Homo sapiens, Rattus norvegicus | S155 | SIINISSIIGK | 1 | Mus musculus | S156 | IINISSIVGKV | 2 | Homo sapiens, Rattus norvegicus | S156 | IINISSIIGKV | 1 | Mus musculus | S21 | VTGAGSGIGRA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S77 | FQADVSEARAA | 1 | Homo sapiens | S77 | FQADVSQGPAA | 1 | Mus musculus | S77 | FQADVSEGPAA | 1 | Rattus norvegicus | T204 | PGFIATPMTQK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T207 | IATPMTQKMPE | 2 | Mus musculus, Rattus norvegicus | T207 | IATPMTQKVPQ | 1 | Homo sapiens | V126 | DRVIAVNLKGT | 2 | Mus musculus, Rattus norvegicus | V126 | DKVIAVNLKGT | 1 | Homo sapiens | V76 | AFQADVSEARA | 1 | Homo sapiens | V76 | AFQADVSQGPA | 1 | Mus musculus | V76 | AFQADVSEGPA | 1 | Rattus norvegicus | Y169 | IGQTNYASSKA | 2 | Mus musculus, Rattus norvegicus | Y169 | VGQTNYAASKA | 1 | Homo sapiens |
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