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mutLBSgeneDB |
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| Gene summary for AKR1C4 |
 Gene summary |
| Basic gene Info. | Gene symbol | AKR1C4 |
| Gene name | aldo-keto reductase family 1, member C4 | |
| Synonyms | 3-alpha-HSD|C11|CDR|CHDR|DD-4|DD4|HAKRA | |
| Cytomap | UCSC genome browser: 10p15.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001818.3, | |
| Description | 3-alpha-HSD1aldo-keto reductase family 1 member C4chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4dihydrodiol dehydrogenase isozyme DD4type I 3-alpha-hydroxysteroid dehydrogenase | |
| Modification date | 20141211 | |
| dbXrefs | MIM : 600451 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000198610 | ||
| HPRD : 07040 | ||
| Vega : OTTHUMG00000017591 | ||
| Protein | UniProt: P17516 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AKR1C4 | |
| BioGPS: 1109 | ||
| Pathway | NCI Pathway Interaction Database: AKR1C4 | |
| KEGG: AKR1C4 | ||
| REACTOME: AKR1C4 | ||
| Pathway Commons: AKR1C4 | ||
| Context | iHOP: AKR1C4 | |
| ligand binding site mutation search in PubMed: AKR1C4 | ||
| UCL Cancer Institute: AKR1C4 | ||
| 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:0071395 | cellular response to jasmonic acid stimulus | 19487289 |
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| Ligand binding site mutations for AKR1C4 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Q222 | R223Q | BRCA | 1 | Q190 | E192Q | HNSC | 1 | S271 | S271R | LUAD | 1 | L268,K270 | A269T | STAD | 1 | G22 | F21V | UCEC | 1 | Q222 | R223Q | 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 AKR1C4 |
| 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 | Q222 | R223Q | -1.3206723 | L268 | A269T | -1.0104371 | K270 | A269T | -1.0104371 | G22 | F21V | -0.95726753 | Q190 | E192Q | -0.78914727 | S271 | S271R | -0.60236587 |
| (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 AKR1C4 from PDB |
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| Differential gene expression and gene-gene network for AKR1C4 |
| 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 AKR1C4 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0005586 | Bipolar Disorder | 2 | Biomarker |
| umls:C1456784 | Paranoid Disorders | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for AKR1C4 |
| 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 |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of AKR1C4 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAP | NADP ZWITTERION | 2fvl | A | G22 Q190 Q222 L268 K270 S271 | NAP | NADP ZWITTERION | 2fvl | B | G22 Q190 Q222 L268 K270 S271 | NAP | NADP ZWITTERION | 2fvl | C | G22 Q190 Q222 L268 K270 S271 |
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| Conservation information for LBS of AKR1C4 |
| Multiple alignments for P17516 in multiple species |
| LBS | AA sequence | # species | Species |
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