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mutLBSgeneDB |
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| Gene summary for FKBP4 |
 Gene summary |
| Basic gene Info. | Gene symbol | FKBP4 |
| Gene name | FK506 binding protein 4, 59kDa | |
| Synonyms | FKBP51|FKBP52|FKBP59|HBI|Hsp56|PPIase|p52 | |
| Cytomap | UCSC genome browser: 12p13.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002014.3, | |
| Description | 51 kDa FK506-binding proteinFK506-binding protein 4 (59kD)HSP binding immunophilinT-cell FK506-binding protein, 59kDpeptidyl-prolyl cis-trans isomerase FKBP4peptidylprolyl cis-trans isomeraserotamase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600611 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000004478 | ||
| HPRD : 11794 | ||
| Vega : OTTHUMG00000090429 | ||
| Protein | UniProt: Q02790 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FKBP4 | |
| BioGPS: 2288 | ||
| Pathway | NCI Pathway Interaction Database: FKBP4 | |
| KEGG: FKBP4 | ||
| REACTOME: FKBP4 | ||
| Pathway Commons: FKBP4 | ||
| Context | iHOP: FKBP4 | |
| ligand binding site mutation search in PubMed: FKBP4 | ||
| UCL Cancer Institute: FKBP4 | ||
| 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:0000413 | protein peptidyl-prolyl isomerization | 11350175 | GO:0061077 | chaperone-mediated protein folding | 11350175 |
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| Ligand binding site mutations for FKBP4 |
| 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 | F130 | E131Q | HNSC | 1 | G84 | G82R | SKCM | 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 FKBP4 |
| 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 | G84 | G82R | -1.0257245 | F130 | E131Q | -1.0044499 |
| (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 FKBP4 from PDB |
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| Differential gene expression and gene-gene network for FKBP4 |
| 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 FKBP4 |
| 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 FKBP4 |
| 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 FKBP4 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FK5 | TACROLIMUS (ANHYDROUS) | 4lax | A | F130 | RAP | RAPAMYCIN IMMUNOSUPPRESSANT DRUG | 4drj | A | G84 F130 | I63 | {3-[(1R)-3-(3,4-DIMETHOXYPHENYL)-1-({[(2S)-1-(3,3-DIMETHYL-2-OXOPENTANOYL)PIPERIDIN-2-YL]CARBONYL}OXY)PROPYL]PHENOXY}ACETIC ACID | 4lay | A | G84 F130 | 37M | 2-(5-{[({3-[(1R)-1-[({(2S)-1-[(2S)-2-[(1S)-CYCLOHEX-2- EN-1-YL]-2-(3,4,5-TRIMETHOXYPHENYL)ACETYL]PIPERIDIN-2- YL}CARBONYL)OXY]-3-(3,4-DIMETHOXYPHENYL) PROPYL]PHENOXY}ACETYL)AMINO]METHYL}-6-HYDROXY-3-OXO- 3H-XANTHEN-9-YL)BENZOIC ACID | 4tw8 | A | G84 F130 | 37M | 2-(5-{[({3-[(1R)-1-[({(2S)-1-[(2S)-2-[(1S)-CYCLOHEX-2- EN-1-YL]-2-(3,4,5-TRIMETHOXYPHENYL)ACETYL]PIPERIDIN-2- YL}CARBONYL)OXY]-3-(3,4-DIMETHOXYPHENYL) PROPYL]PHENOXY}ACETYL)AMINO]METHYL}-6-HYDROXY-3-OXO- 3H-XANTHEN-9-YL)BENZOIC ACID | 4tw8 | B | G84 F130 |
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| Conservation information for LBS of FKBP4 |
| Multiple alignments for Q02790 in multiple species |
| LBS | AA sequence | # species | Species | A112 | CKPEYAYGSAG | 2 | Homo sapiens, Rattus norvegicus | A112 | IPAELAYGESG | 1 | Arabidopsis thaliana | A112 | CAPNYAYGAAG | 1 | Drosophila melanogaster | A112 | CKPEYAYGLAG | 1 | Bos taurus | A112 | CKPEYAYGAAG | 1 | Mus musculus | D68 | DGTKFDSSLDR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D68 | DGTKFDSSRDR | 1 | Arabidopsis thaliana | D68 | DGTEFDSSLSR | 1 | Drosophila melanogaster | E353 | LDSNNEKGLFR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E353 | LESTNVKALYR | 1 | Arabidopsis thaliana | E353 | LDKNNVKALYR | 1 | Drosophila melanogaster | E85 | DLGKGEVIKAW | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E85 | TLGQGQVIKGW | 1 | Arabidopsis thaliana | E85 | SLGKGNVIKAF | 1 | Drosophila melanogaster | F130 | NATLVFEVELF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F130 | NATLQFDVELL | 1 | Arabidopsis thaliana | F130 | DATLIFELEML | 1 | Drosophila melanogaster | F67 | LDGTKFDSSLD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F67 | LDGTKFDSSRD | 1 | Arabidopsis thaliana | F67 | VDGTEFDSSLS | 1 | Drosophila melanogaster | F77 | DRKDKFSFDLG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F77 | DRATPFKFTLG | 1 | Arabidopsis thaliana | F77 | SRNEPFEFSLG | 1 | Drosophila melanogaster | F77 | DRKDRFSFDLG | 1 | Bos taurus | G59 | FVHYTGWLLDG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G59 | EVHYTGTLLDG | 1 | Arabidopsis thaliana | G59 | SLHYTGRLVDG | 1 | Drosophila melanogaster | G84 | FDLGKGEVIKA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G84 | FTLGQGQVIKG | 1 | Arabidopsis thaliana | G84 | FSLGKGNVIKA | 1 | Drosophila melanogaster | I122 | GSPPKIPPNAT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I122 | GSPPTIPANAT | 1 | Arabidopsis thaliana | I122 | GSPPAIPPDAT | 1 | Drosophila melanogaster | I87 | GKGEVIKAWDI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I87 | GQGQVIKGWDI | 1 | Arabidopsis thaliana | I87 | GKGNVIKAFDM | 1 | Drosophila melanogaster | K121 | AGSPPKIPPNA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K121 | SGSPPTIPANA | 1 | Arabidopsis thaliana | K121 | AGSPPAIPPDA | 1 | Drosophila melanogaster | K282 | GTVYFKEGKYK | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | K282 | GNSKFKGGKYS | 1 | Arabidopsis thaliana | K282 | GTNYFKKENWA | 1 | Drosophila melanogaster | K282 | GTAYFKEGKYK | 1 | Mus musculus | K354 | DSNNEKGLFRR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K354 | ESTNVKALYRR | 1 | Arabidopsis thaliana | K354 | DKNNVKALYRR | 1 | Drosophila melanogaster | K387 | LYPSNKAAKTQ | 2 | Mus musculus, Rattus norvegicus | K387 | LYPNNKAAKTQ | 1 | Homo sapiens | K387 | IDPNNREVKLE | 1 | Arabidopsis thaliana | K387 | LEPGNKAAANQ | 1 | Drosophila melanogaster | K387 | LYPSNKAAKAQ | 1 | Bos taurus | M327 | HLNLAMCHLKL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | M327 | NLNDAACKLKL | 1 | Arabidopsis thaliana | M327 | HSNIALCHQKS | 1 | Drosophila melanogaster | N324 | LASHLNLAMCH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N324 | VACNLNDAACK | 1 | Arabidopsis thaliana | N324 | VATHSNIALCH | 1 | Drosophila melanogaster | R358 | EKGLFRRGEAH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R358 | VKALYRRAQAY | 1 | Arabidopsis thaliana | R358 | VKALYRRGQCN | 1 | Drosophila melanogaster | V86 | LGKGEVIKAWD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V86 | LGQGQVIKGWD | 1 | Arabidopsis thaliana | V86 | LGKGNVIKAFD | 1 | Drosophila melanogaster | W60 | VHYTGWLLDGT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W60 | VHYTGTLLDGT | 1 | Arabidopsis thaliana | W60 | LHYTGRLVDGT | 1 | Drosophila melanogaster | W90 | EVIKAWDIAVA | 3 | Bos taurus, Mus musculus, Rattus norvegicus | W90 | EVIKAWDIAIA | 1 | Homo sapiens | W90 | QVIKGWDIGIK | 1 | Arabidopsis thaliana | W90 | NVIKAFDMGVA | 1 | Drosophila melanogaster | Y113 | KPEYAYGSAGS | 2 | Homo sapiens, Rattus norvegicus | Y113 | PAELAYGESGS | 1 | Arabidopsis thaliana | Y113 | APNYAYGAAGS | 1 | Drosophila melanogaster | Y113 | KPEYAYGLAGS | 1 | Bos taurus | Y113 | KPEYAYGAAGS | 1 | Mus musculus | Y57 | RVFVHYTGWLL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y57 | EVEVHYTGTLL | 1 | Arabidopsis thaliana | Y57 | TVSLHYTGRLV | 1 | Drosophila melanogaster |
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